{ "uniprot_canonical_ac": "P13716-1", "uniprot_ac": "P13716", "uniprot_id": "HEM2_HUMAN", "mass": { "chemical_mass": 36295.0, "monoisotopic_mass": 36295.0 }, "refseq": { "ac": "NP_000022", "name": "delta-aminolevulinic acid dehydratase isoform b", "summary": "The ALAD enzyme is composed of 8 identical subunits and catalyzes the condensation of 2 molecules of delta-aminolevulinate to form porphobilinogen (a precursor of heme, cytochromes and other hemoproteins). ALAD catalyzes the second step in the porphyrin and heme biosynthetic pathway; zinc is essential for enzymatic activity. ALAD enzymatic activity is inhibited by lead and a defect in the ALAD structural gene can cause increased sensitivity to lead poisoning and acute hepatic porphyria. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000022" }, "gene_names": [ { "name": "ALAD", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P13716", "id": "P13716" }, { "name": "ALADH; PBGS", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000022", "id": "NP_000022" }, { "name": "ALAD", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000022", "id": "NP_000022" } ], "protein_names": [ { "name": "Delta-aminolevulinic acid dehydratase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P13716" }, { "name": "4.2.1.24", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13716" }, { "name": "ALADH", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13716" }, { "name": "Porphobilinogen synthase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13716" }, { "name": "delta-aminolevulinic acid dehydratase isoform b", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000022", "id": "NP_000022" }, { "name": "porphobilinogen synthase; aminolevulinate, delta-, dehydratase; testicular tissue protein Li 95; delta-aminolevulinic acid dehydratase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000022", "id": "NP_000022" } ], "function": [ { "annotation": "ALAD and APOE polymorphisms are associated with lead and mercury levels in Italian pregnant women and their newborns with adequate nutritional status of zinc and selenium.", "evidence": [ { "database": "RefSeq", "id": "NP_000022", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000022" }, { "database": "PubMed", "id": "36621546", "url": "https://glygen.org/publication/PubMed/36621546" } ] }, { "annotation": "Catalyzes an early step in the biosynthesis of tetrapyrroles. Binds two molecules of 5-aminolevulinate per subunit, each at a distinct site, and catalyzes their condensation to form porphobilinogen.", "evidence": [ { "database": "UniProtKB", "id": "B7ZBK6", "url": "https://www.uniprot.org/uniprot/B7ZBK6#function" }, { "database": "UniProtKB", "id": "ARBA00025628", "url": "https://www.uniprot.org/uniprot/ARBA00025628#function" }, { "database": "UniProtKB", "id": "B7ZBK7", "url": "https://www.uniprot.org/uniprot/B7ZBK7#function" }, { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716#function" }, { "database": "PubMed", "id": "19812033", "url": "https://glygen.org/publication/PubMed/19812033" }, { "database": "PubMed", "id": "11032836", "url": "https://glygen.org/publication/PubMed/11032836" } ] }, { "annotation": "Genetic Polymorphism of Delta Aminolevulinic Acid Dehydratase (ALAD) Gene and Symptoms of Chronic Mercury Exposure in Munduruku Indigenous Children within the Brazilian Amazon. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000022", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000022" }, { "database": "PubMed", "id": "34444495", "url": "https://glygen.org/publication/PubMed/34444495" } ] }, { "annotation": "Genetic susceptibility of delta-ALAD associated with lead (Pb) intoxication: sources of exposure, preventive measures, and treatment interventions. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_000022", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000022" }, { "database": "PubMed", "id": "34244947", "url": "https://glygen.org/publication/PubMed/34244947" } ] }, { "annotation": "Heme biosynthesis depends on previously unrecognized acquisition of iron-sulfur cofactors in human amino-levulinic acid dehydratase. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000022", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000022" }, { "database": "PubMed", "id": "33298951", "url": "https://glygen.org/publication/PubMed/33298951" } ] }, { "annotation": "The ALAD enzyme is composed of 8 identical subunits and catalyzes the condensation of 2 molecules of delta-aminolevulinate to form porphobilinogen (a precursor of heme, cytochromes and other hemoproteins). ALAD catalyzes the second step in the porphyrin and heme biosynthetic pathway; zinc is essential for enzymatic activity. ALAD enzymatic activity is inhibited by lead and a defect in the ALAD structural gene can cause increased sensitivity to lead poisoning and acute hepatic porphyria. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015].", "evidence": [ { "database": "RefSeq", "id": "NP_000022", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000022" } ] } ], "disease": [ { "disease_id": "DOID:3133", "recommended_name": { "id": "DOID:3133", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3133", "name": "acute porphyria", "description": "A porphyria that has_symptom abdominal pain, has_symptom neuropathy, has_symptom autonomic instability and has_symptom psychosis." }, "synonyms": [ { "id": "DOID:3133", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3133", "name": "hepatic porphyria", "description": "" }, { "id": "MONDO:0013000", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013000", "name": "porphyria due to ALA dehydratase deficiency", "description": "Porphyria of doss or deficiency of delta-aminolevulinic acid dehydratase (DALAD) is an extremely rare form of acute hepatic porphyria characterized by neuro-visceral attacks without cutaneous manifestations." }, { "id": "MONDO:0013000", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013000", "name": "ALAD porphyria", "description": "" }, { "id": "MONDO:0013000", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013000", "name": "acute hepatic porphyria", "description": "" }, { "id": "MONDO:0013000", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013000", "name": "porphyria due to ALA dehydratase deficiency", "description": "" }, { "id": "MONDO:0013000", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013000", "name": "porphyria due to ALAD deficiency", "description": "" }, { "id": "MONDO:0013000", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013000", "name": "porphyria due to delta-aminolevulinate dehydratase deficiency", "description": "" }, { "id": "MONDO:0013000", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013000", "name": "porphyria of Doss", "description": "" }, { "id": "MONDO:0013000", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013000", "name": "5-aminolevulinic acid dehydratase deficiency porphyria", "description": "" }, { "id": "MONDO:0013000", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013000", "name": "ALA dehydratase deficiency pophyria", "description": "" }, { "id": "MONDO:0013000", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013000", "name": "ALAD deficiency", "description": "" }, { "id": "MONDO:0013000", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013000", "name": "Delta-aminolevulinate dehydratase deficiency", "description": "" }, { "id": "MONDO:0013000", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013000", "name": "Doss porphyria", "description": "" }, { "id": "MONDO:0013000", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013000", "name": "Lead poisoning, susceptibility to", "description": "" }, { "id": "MONDO:0013000", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013000", "name": "aminolevulinate dehydratase deficiency porphyria", "description": "" }, { "id": "MONDO:0013000", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013000", "name": "porphobilinogen synthase deficiency", "description": "" }, { "id": "MONDO:0013000", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013000", "name": "porphyria, ALAD", "description": "" }, { "id": "MONDO:0013000", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013000", "name": "porphyria, acute hepatic", "description": "" }, { "id": "MIM:612740", "resource": "MIM", "url": "https://www.omim.org/entry/612740", "name": "Acute hepatic porphyria", "description": "Acute hepatic porphyria" } ], "evidence": [ { "id": "612740", "database": "MIM", "url": "https://www.omim.org/entry/612740" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 122, "end_pos": 122, "sequence_org": "C", "sequence_mut": "A", "comment": "Reduces enzyme activity about 1000000-fold; when associated with A-124 and A-132.", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" }, { "database": "PubMed", "id": "11032836", "url": "https://glygen.org/publication/PubMed/11032836" } ] }, { "start_pos": 124, "end_pos": 124, "sequence_org": "C", "sequence_mut": "A", "comment": "Reduces enzyme activity about 1000000-fold; when associated with A-122 and A-132.", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" }, { "database": "PubMed", "id": "11032836", "url": "https://glygen.org/publication/PubMed/11032836" } ] }, { "start_pos": 131, "end_pos": 131, "sequence_org": "H", "sequence_mut": "A", "comment": "No effect on catalytic activity; when associated with A-223.", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" }, { "database": "PubMed", "id": "11032836", "url": "https://glygen.org/publication/PubMed/11032836" } ] }, { "start_pos": 132, "end_pos": 132, "sequence_org": "C", "sequence_mut": "A", "comment": "Reduces enzyme activity about 1000000-fold; when associated with A-122 and A-124.", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" }, { "database": "PubMed", "id": "11032836", "url": "https://glygen.org/publication/PubMed/11032836" } ] }, { "start_pos": 223, "end_pos": 223, "sequence_org": "C", "sequence_mut": "A", "comment": "No effect on catalytic activity; when associated with A-131.", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" }, { "database": "PubMed", "id": "11032836", "url": "https://glygen.org/publication/PubMed/11032836" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "91.97", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000148218", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000148218" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "85.69", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000148218", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000148218" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "86.88", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000148218", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000148218" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "79.44", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000148218", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000148218" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "87.63", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000148218", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000148218" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "92.85", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000148218", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000148218" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "79.31", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000148218", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000148218" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "89.9", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000148218", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000148218" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "91.48", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000148218", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000148218" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "73.85", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000148218", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000148218" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "94.79", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000148218", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000148218" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "93.68", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000148218", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000148218" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "90.25", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000148218", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000148218" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P13716", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13716" } ], "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": "P13716", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13716" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P13716", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13716" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P13716", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13716" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P13716", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13716" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P13716", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13716" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P13716", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13716" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P13716", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13716" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P13716", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13716" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P13716", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13716" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P13716", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13716" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "P13716", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13716" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" } ], "common_name": "Human" } ], "gene": [ { "name": "ALAD", "url": "https://www.uniprot.org/uniprot/P13716", "locus": { "chromosome": "9", "start_pos": 113386312, "end_pos": 113401290, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000148218", "url": "https://www.ensembl.org/id/ENSG00000148218" } ] } } ], "crossref": [ { "id": "ENSG00000148218", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000148218", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "4.2.1.24", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=4.2.1.24&UniProtAcc=P13716", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "cd04824", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd04824", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CHEMBL3126", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL3126", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "ALAD", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALAD", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "210", "url": "https://www.ncbi.nlm.nih.gov/gene/210", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "395", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=395", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "P13716", "url": "https://www.ebi.ac.uk/intact/interactors/id:P13716*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001731", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001731", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013785", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013785", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR030656", "url": "https://www.ebi.ac.uk/interpro/entry/IPR030656", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:210", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:210", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "125270", "url": "http://www.omim.org/entry/125270", "database": "MIM", "categories": [ "Other" ] }, { "id": "612740", "url": "http://www.omim.org/entry/612740", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P13716", "url": "https://www.nextprot.org/entry/NX_P13716", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "P13716", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P13716", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "YQMDYAN", "url": "https://omabrowser.org/oma/group/YQMDYAN/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2782182at2759", "url": "http://www.orthodb.org/?query=2782182at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11458", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11458", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11458:SF0", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11458:SF0", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "1E51", "url": "https://www.rcsb.org/structure/1E51", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1PV8", "url": "https://www.rcsb.org/structure/1PV8", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5HMS", "url": "https://www.rcsb.org/structure/5HMS", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5HNR", "url": "https://www.rcsb.org/structure/5HNR", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00490", "url": "http://pfam.xfam.org/family/PF00490", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P13716", "url": "https://pharos.nih.gov/targets/P13716", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P13716", "url": "http://purl.obolibrary.org/obo/PR_P13716", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000022", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000022", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "24064", "url": "https://www.rhea-db.org/rhea/24064", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "B7ZBK6", "url": "https://www.uniprot.org/uniprot/B7ZBK6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B7ZBK6-1", "url": "https://www.uniprot.org/uniprot/B7ZBK6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B7ZBK7", "url": "https://www.uniprot.org/uniprot/B7ZBK7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B7ZBK7-1", "url": "https://www.uniprot.org/uniprot/B7ZBK7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B7ZBK8", "url": "https://www.uniprot.org/uniprot/B7ZBK8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B7ZBK8-1", "url": "https://www.uniprot.org/uniprot/B7ZBK8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P13716-1", "url": "https://www.uniprot.org/uniprot/P13716-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P13716-2", "url": "https://www.uniprot.org/uniprot/P13716-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MQPQSVLHSGYFHPLLRAWQTATTTLNASNLIYPIFVTDVPDDIQPITSLPGVARYGVKRLEEMLRPLVEEGLRCVLIFGVPSRVPKDERGSAADSEESPAIEAIHLLRKTFPNLLVACDVCLCPYTSHGHCGLLSENGAFRAEESRQRLAEVALAYAKAGCQVVAPSDMMDGRVEAIKEALMAHGLGNRVSVMSYSAKFASCFYGPFRDAAKSSPAFGDRRCYQLPPGARGLALRAVDRDVREGADMLMVKPGMPYLDIVREVKDKHPDLPLAVYHVSGEFAMLWHGAQAGAFDLKAAVLEAMTAFRRAGADIIITYYTPQLLQWLKEE", "length": 330, "header": "sp|P13716-1|HEM2_HUMAN Isoform 1 of Delta-aminolevulinic acid dehydratase OS=Homo sapiens OX=9606 GN=ALAD PE=1 SV=1 CANONICAL=P13716-1" }, "isoforms": [ { "isoform_ac": "B7ZBK6-1", "url": "", "sequence": { "sequence": "MPLCPLAHAMQPQSVLHSGYFHPLLRAWQTATTTLNASNLIYPIFVTDVPDDIQPITSLPGVARYGVKRLEEMLRPLVEEGLRCVLIFGVPSRVPKDERGSAADSEESPAIEAIHLLRKT", "length": 120, "header": "tr|B7ZBK6-1|HEM2_HUMAN Computationally mapped isoform of Delta-aminolevulinic acid dehydratase OS=Homo sapiens OX=9606 GN=ALAD PE=1 SV=1 CANONICAL=P13716-1" }, "locus": { "chromosome": "9", "start_pos": 113393586, "end_pos": 113390862, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000448137.5", "url": "https://www.ensembl.org/id/ENST00000448137.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000392748.1", "url": "https://www.ensembl.org/id/ENSP00000392748.1" } ] } }, { "isoform_ac": "B7ZBK7-1", "url": "", "sequence": { "sequence": "MPLCPLAHAMQPQSVLHSGYFHPLLRAWQTATTTLNASNLIYPIFVTDVPDDIQPITSL", "length": 59, "header": "tr|B7ZBK7-1|HEM2_HUMAN Computationally mapped isoform of Delta-aminolevulinic acid dehydratase OS=Homo sapiens OX=9606 GN=ALAD PE=1 SV=1 CANONICAL=P13716-1" }, "locus": { "chromosome": "9", "start_pos": 113393586, "end_pos": 113392133, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000452726.1", "url": "https://www.ensembl.org/id/ENST00000452726.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000415737.1", "url": "https://www.ensembl.org/id/ENSP00000415737.1" } ] } }, { "isoform_ac": "B7ZBK8-1", "url": "", "sequence": { "sequence": "MPLCPLAHAMQPQS", "length": 14, "header": "tr|B7ZBK8-1|HEM2_HUMAN Computationally mapped isoform of Delta-aminolevulinic acid dehydratase OS=Homo sapiens OX=9606 GN=ALAD PE=1 SV=1 CANONICAL=P13716-1" }, "locus": { "chromosome": "9", "start_pos": 113393586, "end_pos": 113393545, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000445750.1", "url": "https://www.ensembl.org/id/ENST00000445750.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000398438.1", "url": "https://www.ensembl.org/id/ENSP00000398438.1" } ] } }, { "isoform_ac": "P13716-1", "url": "", "sequence": { "sequence": "MQPQSVLHSGYFHPLLRAWQTATTTLNASNLIYPIFVTDVPDDIQPITSLPGVARYGVKRLEEMLRPLVEEGLRCVLIFGVPSRVPKDERGSAADSEESPAIEAIHLLRKTFPNLLVACDVCLCPYTSHGHCGLLSENGAFRAEESRQRLAEVALAYAKAGCQVVAPSDMMDGRVEAIKEALMAHGLGNRVSVMSYSAKFASCFYGPFRDAAKSSPAFGDRRCYQLPPGARGLALRAVDRDVREGADMLMVKPGMPYLDIVREVKDKHPDLPLAVYHVSGEFAMLWHGAQAGAFDLKAAVLEAMTAFRRAGADIIITYYTPQLLQWLKEE", "length": 330, "header": "sp|P13716-1|HEM2_HUMAN Isoform 1 of Delta-aminolevulinic acid dehydratase OS=Homo sapiens OX=9606 GN=ALAD PE=1 SV=1 CANONICAL=P13716-1" }, "locus": { "chromosome": "9", "start_pos": 113393559, "end_pos": 113388303, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000409155.8", "url": "https://www.ensembl.org/id/ENST00000409155.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000386284.3", "url": "https://www.ensembl.org/id/ENSP00000386284.3" } ] } }, { "isoform_ac": "P13716-2", "url": "", "sequence": { "sequence": "MPPTSSTPSLSRPGLGQAGKPDTGSHPPPTISTSIFLSCFPTIPLSRPRTTGPSHSYQSISHPRSCRDVPDDIQPITSLPGVARYGVKRLEEMLRPLVEEGLRCVLIFGVPSRVPKDERGSAADSEESPAIEAIHLLRKTFPNLLVACDVCLCPYTSHGHCGLLSENGAFRAEESRQRLAEVALAYAKAGCQVVAPSDMMDGRVEAIKEALMAHGLGNRVSVMSYSAKFASCFYGPFRDAAKSSPAFGDRRCYQLPPGARGLALRAVDRDVREGADMLMVKPGMPYLDIVREVKDKHPDLPLAVYHVSGEFAMLWHGAQAGAFDLKAAVLEAMTAFRRAGADIIITYYTPQLLQWLKEE", "length": 359, "header": "sp|P13716-2|HEM2_HUMAN Isoform 2 of Delta-aminolevulinic acid dehydratase OS=Homo sapiens OX=9606 GN=ALAD PE=1 SV=1 CANONICAL=P13716-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P13716", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P13716" }, { "id": "18984734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/18984734" } ] } ], "phosphorylation": [ { "start_pos": 215, "end_pos": 215, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" } ], "site_lbl": "Ser215" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "A novel mutation of delta-aminolaevulinate dehydratase in a healthy child with 12% erythrocyte enzyme activity.", "journal": "British journal of haematology", "date": "1999", "authors": "Akagi R, Yasui Y, Harper P, Sassa S", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" } ], "reference": [ { "type": "PubMed", "id": "10519994", "url": "https://glygen.org/publication/PubMed/10519994" } ] }, { "title": "Novel molecular defects of the delta-aminolevulinate dehydratase gene in a patient with inherited acute hepatic porphyria.", "journal": "Hepatology (Baltimore, Md.)", "date": "2000", "authors": "Akagi R, Shimizu R, Furuyama K, Doss MO, Sassa S", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" }, { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "10706561", "url": "https://glygen.org/publication/PubMed/10706561" } ] }, { "title": "The molecular mechanism of lead inhibition of human porphobilinogen synthase.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Jaffe EK, Martins J, Li J, Kervinen J, Dunbrack RL Jr", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" }, { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "11032836", "url": "https://glygen.org/publication/PubMed/11032836" } ] }, { "title": "Mechanistic implications of mutations to the active site lysine of porphobilinogen synthase.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Mitchell LW, Volin M, Martins J, Jaffe EK", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "11032841", "url": "https://glygen.org/publication/PubMed/11032841" } ] }, { "title": "The 2.0 A structure of human ferrochelatase, the terminal enzyme of heme biosynthesis.", "journal": "Nature structural biology", "date": "2001", "authors": "Wu CK, Dailey HA, Rose JP, Burden A, Sellers VM, Wang BC", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "11175906", "url": "https://glygen.org/publication/PubMed/11175906" } ] }, { "title": "Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy.", "journal": "American journal of human genetics", "date": "2003", "authors": "Antonicka H, Mattman A, Carlson CG, Glerum DM, Hoffbuhr KC, Leary SC, Kennaway NG, Shoubridge EA", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "12474143", "url": "https://glygen.org/publication/PubMed/12474143" } ] }, { "title": "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.", "journal": "Nat. Biotechnol.", "date": "2003", "authors": "Gevaert K, Goethals M, Martens L, Van Damme J, Staes A, Thomas GR, Vandekerckhove J", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" } ], "reference": [ { "type": "PubMed", "id": "12665801", "url": "https://glygen.org/publication/PubMed/12665801" } ] }, { "title": "Human porphobilinogen deaminase mutations in the investigation of the mechanism of dipyrromethane cofactor assembly and tetrapyrrole formation.", "journal": "Biochemical Society transactions", "date": "2003", "authors": "Shoolingin-Jordan PM, Al-Dbass A, McNeill LA, Sarwar M, Butler D", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "12773194", "url": "https://glygen.org/publication/PubMed/12773194" } ] }, { "title": "Control of tetrapyrrole biosynthesis by alternate quaternary forms of porphobilinogen synthase.", "journal": "Nat. Struct. Biol.", "date": "2003", "authors": "Breinig Sabine, Kervinen Jukka, Stith Linda, Wasson Andrew S, Fairman Robert, Wlodawer Alexander, Zdanov Alexander, Jaffe Eileen K", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" } ], "reference": [ { "type": "PubMed", "id": "12897770", "url": "https://glygen.org/publication/PubMed/12897770" } ] }, { "title": "Cloning and expression of the defective genes in delta-aminolevulinate dehydratase porphyria: compound heterozygosity in this hereditary liver disease.", "journal": "Transactions of the Association of American Physicians", "date": "1992", "authors": "Sassa S, Ishida N, Fujita H, Fukuda Y, Noguchi T, Doss M, Kappas A", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" } ], "reference": [ { "type": "PubMed", "id": "1309003", "url": "https://glygen.org/publication/PubMed/1309003" } ] }, { "title": "Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome.", "journal": "Journal of medical genetics", "date": "2004", "authors": "Oquendo CE, Antonicka H, Shoubridge EA, Reardon W, Brown GK", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "15235026", "url": "https://glygen.org/publication/PubMed/15235026" } ] }, { "title": "Cloning and expression of the defective genes from a patient with delta-aminolevulinate dehydratase porphyria.", "journal": "The Journal of clinical investigation", "date": "1992", "authors": "Ishida N, Fujita H, Fukuda Y, Noguchi T, Doss M, Kappas A, Sassa S", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" } ], "reference": [ { "type": "PubMed", "id": "1569184", "url": "https://glygen.org/publication/PubMed/1569184" } ] }, { "title": "Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency.", "journal": "Journal of medical genetics", "date": "2005", "authors": "Bugiani M, Tiranti V, Farina L, Uziel G, Zeviani M", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "15863660", "url": "https://glygen.org/publication/PubMed/15863660" } ] }, { "title": "Crystal structure of 5-aminolevulinate synthase, the first enzyme of heme biosynthesis, and its link to XLSA in humans.", "journal": "The EMBO journal", "date": "2005", "authors": "Astner I, Schulze JO, van den Heuvel J, Jahn D, Schubert WD, Heinz DW", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "16121195", "url": "https://glygen.org/publication/PubMed/16121195" } ] }, { "title": "Structural basis of hereditary coproporphyria.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2005", "authors": "Lee DS, Flachsova E, Bodnarova M, Demeler B, Martasek P, Raman CS", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "16176984", "url": "https://glygen.org/publication/PubMed/16176984" } ] }, { "title": "Kinetic evaluation of human cloned coproporphyrinogen oxidase using a ring isomer of the natural substrate.", "journal": "Medical science monitor : international medical journal of experimental and clinical research", "date": "2005", "authors": "Cooper CL, Lash TD, Jones MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "16258391", "url": "https://glygen.org/publication/PubMed/16258391" } ] }, { "title": "Dual gene defects involving delta-aminolaevulinate dehydratase and coproporphyrinogen oxidase in a porphyria patient.", "journal": "British journal of haematology", "date": "2006", "authors": "Akagi R, Inoue R, Muranaka S, Tahara T, Taketani S, Anderson KE, Phillips JD, Sassa S", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" } ], "reference": [ { "type": "PubMed", "id": "16398658", "url": "https://glygen.org/publication/PubMed/16398658" } ] }, { "title": "RsaI polymorphism in the human delta-aminolevulinate dehydratase gene at 9q34.", "journal": "Nucleic Acids Res.", "date": "1991", "authors": "Astrin KH, Kaya AH, Wetmur JG, Desnick RJ", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" } ], "reference": [ { "type": "PubMed", "id": "1678509", "url": "https://glygen.org/publication/PubMed/1678509" } ] }, { "title": "Molecular characterization of the human delta-aminolevulinate dehydratase 2 (ALAD2) allele: implications for molecular screening of individuals for genetic susceptibility to lead poisoning.", "journal": "American journal of human genetics", "date": "1991", "authors": "Wetmur JG, Kaya AH, Plewinska M, Desnick RJ", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" } ], "reference": [ { "type": "PubMed", "id": "1716854", "url": "https://glygen.org/publication/PubMed/1716854" } ] }, { "title": "ALAD porphyria is a conformational disease.", "journal": "American journal of human genetics", "date": "2007", "authors": "Jaffe EK, Stith L", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" } ], "reference": [ { "type": "PubMed", "id": "17236137", "url": "https://glygen.org/publication/PubMed/17236137" } ] }, { "title": "The delta-aminolevulinate dehydratase polymorphism: higher blood lead levels in lead workers and environmentally exposed children with the 1-2 and 2-2 isozymes.", "journal": "Environmental research", "date": "1991", "authors": "Wetmur JG, Lehnert G, Desnick RJ", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" } ], "reference": [ { "type": "PubMed", "id": "1769358", "url": "https://glygen.org/publication/PubMed/1769358" } ] }, { "title": "Association between delta-aminolevulinic acid dehydratase (ALAD) polymorphism and blood lead levels: a meta-regression analysis.", "journal": "J. Toxicol. Environ. Health Part A", "date": "2007", "authors": "Zhao Yang, Wang Lu, Shen Hong-Bing, Wang Zhong-Xu, Wei Qing-Yi, Chen Feng", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" } ], "reference": [ { "type": "PubMed", "id": "17966070", "url": "https://glygen.org/publication/PubMed/17966070" } ] }, { "title": "Site-specific GlcNAcylation of human erythrocyte proteins: potential biomarker(s) for diabetes.", "journal": "Diabetes", "date": "2009", "authors": "Wang Z, Park K, Comer F, Hsieh-Wilson LC, Saudek CD, Hart GW", "evidence": [ { "database": "O-GlcNAc Database", "id": "P13716", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P13716" } ], "reference": [ { "type": "PubMed", "id": "18984734", "url": "https://glygen.org/publication/PubMed/18984734" } ] }, { "title": "Biosynthesis of delta-aminolevulinic acid and the regulation of heme formation by immature erythroid cells in man.", "journal": "The Journal of biological chemistry", "date": "1991", "authors": "Gardner LC, Smith SJ, Cox TM", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "1939222", "url": "https://glygen.org/publication/PubMed/1939222" } ] }, { "title": "Allosteric inhibition of human porphobilinogen synthase.", "journal": "The Journal of biological chemistry", "date": "2009-12-18", "authors": "Lawrence Sarah H, Ramirez Ursula D, Selwood Trevor, Stith Linda, Jaffe Eileen K", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" } ], "reference": [ { "type": "PubMed", "id": "19812033", "url": "https://glygen.org/publication/PubMed/19812033" } ] }, { "title": "delta-Aminolevulinate dehydratase deficient porphyria: identification of the molecular lesions in a severely affected homozygote.", "journal": "American journal of human genetics", "date": "1991", "authors": "Plewinska M, Thunell S, Holmberg L, Wetmur JG, Desnick RJ", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" } ], "reference": [ { "type": "PubMed", "id": "2063868", "url": "https://glygen.org/publication/PubMed/2063868" } ] }, { "title": "ABCG2 transports and transfers heme to albumin through its large extracellular loop.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Desuzinges-Mandon E, Arnaud O, Martinez L, Huche F, Di Pietro A, Falson P", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "20705604", "url": "https://glygen.org/publication/PubMed/20705604" } ] }, { "title": "Proteome profiling of human neutrophil granule subsets, secretory vesicles, and cell membrane: correlation with transcriptome profiling of neutrophil precursors.", "journal": "Journal of leukocyte biology", "date": "2013", "authors": "Rorvig S, Ostergaard O, Heegaard NH, Borregaard N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695" } ], "reference": [ { "type": "PubMed", "id": "23650620", "url": "https://glygen.org/publication/PubMed/23650620" } ] }, { "title": "Identification of lysine at the active site of human 5-aminolaevulinate dehydratase.", "journal": "The Biochemical journal", "date": "1986", "authors": "Gibbs PN, Jordan PM", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" } ], "reference": [ { "type": "PubMed", "id": "3092810", "url": "https://glygen.org/publication/PubMed/3092810" } ] }, { "title": "Heme biosynthesis depends on previously unrecognized acquisition of iron-sulfur cofactors in human amino-levulinic acid dehydratase.", "journal": "Nature communications", "date": "2020", "authors": "Liu G, Sil D, Maio N, Tong WH, Bollinger JM Jr, Krebs C, Rouault TA", "evidence": [ { "database": "RefSeq", "id": "NP_000022", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000022" } ], "reference": [ { "type": "PubMed", "id": "33298951", "url": "https://glygen.org/publication/PubMed/33298951" } ] }, { "title": "Genetic susceptibility of delta-ALAD associated with lead (Pb) intoxication: sources of exposure, preventive measures, and treatment interventions.", "journal": "Environmental science and pollution research international", "date": "2021", "authors": "Qader A, Rehman K, Akash MSH", "evidence": [ { "database": "RefSeq", "id": "NP_000022", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000022" } ], "reference": [ { "type": "PubMed", "id": "34244947", "url": "https://glygen.org/publication/PubMed/34244947" } ] }, { "title": "Genetic Polymorphism of Delta Aminolevulinic Acid Dehydratase (ALAD) Gene and Symptoms of Chronic Mercury Exposure in Munduruku Indigenous Children within the Brazilian Amazon.", "journal": "International journal of environmental research and public health", "date": "2021", "authors": "Perini JA, Silva MC, Vasconcellos ACS, Viana PVS, Lima MO, Jesus IM, Kempton JW, Oliveira RAA, Hacon SS, Basta PC", "evidence": [ { "database": "RefSeq", "id": "NP_000022", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000022" } ], "reference": [ { "type": "PubMed", "id": "34444495", "url": "https://glygen.org/publication/PubMed/34444495" } ] }, { "title": "Human delta-aminolevulinate dehydratase: nucleotide sequence of a full-length cDNA clone.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1986", "authors": "Wetmur JG, Bishop DF, Cantelmo C, Desnick RJ", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" } ], "reference": [ { "type": "PubMed", "id": "3463993", "url": "https://glygen.org/publication/PubMed/3463993" } ] }, { "title": "ALAD and APOE polymorphisms are associated with lead and mercury levels in Italian pregnant women and their newborns with adequate nutritional status of zinc and selenium.", "journal": "Environmental research", "date": "2023-03-01", "authors": "Palir Ne\u017ea, Stajnko Anja, Snoj Tratnik Janja, Mazej Darja, Bri\u0161ki Alenka Se\u0161ek, France-\u0160tiglic Alenka, Rosolen Valentina, Mariuz Marika, Giordani Elisa, Barbone Fabio, Horvat Milena, Falnoga Ingrid", "evidence": [ { "database": "RefSeq", "id": "NP_000022", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000022" } ], "reference": [ { "type": "PubMed", "id": "36621546", "url": "https://glygen.org/publication/PubMed/36621546" } ] }, { "title": "Purification and properties of uroporphyrinogen III synthase from human erythrocytes.", "journal": "The Journal of biological chemistry", "date": "1987", "authors": "Tsai SF, Bishop DF, Desnick RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "3805019", "url": "https://glygen.org/publication/PubMed/3805019" } ] }, { "title": "Evidence that the coproporphyrinogen oxidase activity of rat liver is situated in the intermembrane space of mitochondria.", "journal": "The Biochemical journal", "date": "1978", "authors": "Elder GH, Evans JO", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "666752", "url": "https://glygen.org/publication/PubMed/666752" } ] }, { "title": "Purification and properties of uroporphyrinogen decarboxylase from human erythrocytes. A single enzyme catalyzing the four sequential decarboxylations of uroporphyrinogens I and III.", "journal": "The Journal of biological chemistry", "date": "1983", "authors": "de Verneuil H, Sassa S, Kappas A", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "6822570", "url": "https://glygen.org/publication/PubMed/6822570" } ] }, { "title": "Purification and properties of uroporphyrinogen I synthase from human erythrocytes. Identification of stable enzyme-substrate intermediates.", "journal": "The Journal of biological chemistry", "date": "1980", "authors": "Anderson PM, Desnick RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "7354069", "url": "https://glygen.org/publication/PubMed/7354069" } ] }, { "title": "Porphobilinogen deaminase and uroporphyrinogen III synthase: structure, molecular biology, and mechanism.", "journal": "Journal of bioenergetics and biomembranes", "date": "1995", "authors": "Shoolingin-Jordan PM", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "7592565", "url": "https://glygen.org/publication/PubMed/7592565" } ] }, { "title": "Isolation of a human cDNA for heme A:farnesyltransferase by functional complementation of a yeast cox10 mutant.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1994", "authors": "Glerum DM, Tzagoloff A", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "8078902", "url": "https://glygen.org/publication/PubMed/8078902" } ] }, { "title": "Uroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria.", "journal": "American journal of human genetics", "date": "1996", "authors": "Moran-Jimenez MJ, Ged C, Romana M, Enriquez De Salamanca R, Taieb A, Topi G, D'Alessandro L, de Verneuil H", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "8644733", "url": "https://glygen.org/publication/PubMed/8644733" } ] }, { "title": "Targeting of proteins to granule subsets is determined by timing and not by sorting: The specific granule protein NGAL is localized to azurophil granules when expressed in HL-60 cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1996", "authors": "Le Cabec V, Cowland JB, Calafat J, Borregaard N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695" } ], "reference": [ { "type": "PubMed", "id": "8692836", "url": "https://glygen.org/publication/PubMed/8692836" } ] }, { "title": "Human protoporphyrinogen oxidase: expression, purification, and characterization of the cloned enzyme.", "journal": "Protein science : a publication of the Protein Society", "date": "1996", "authors": "Dailey TA, Dailey HA", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "8771201", "url": "https://glygen.org/publication/PubMed/8771201" } ] }, { "title": "Genomic structure and expression of the human heme A:farnesyltransferase (COX10) gene.", "journal": "Genomics", "date": "1997", "authors": "Murakami T, Reiter LT, Lupski JR", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "9177788", "url": "https://glygen.org/publication/PubMed/9177788" } ] }, { "title": "Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain.", "journal": "Genomics", "date": "1998", "authors": "Petruzzella V, Tiranti V, Fernandez P, Ianna P, Carrozzo R, Zeviani M", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "9878253", "url": "https://glygen.org/publication/PubMed/9878253" } ] } ], "pathway": [ { "id": "hsa:210", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:210", "resource": "KEGG Pathway" }, { "id": "R-HSA-189451", "name": "Heme biosynthesis", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451", "resource": "Reactome", "description": "Heme biosynthesis" }, { "id": "R-HSA-6798695", "name": "Neutrophil degranulation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695", "resource": "Reactome", "description": "Neutrophil degranulation" } ], "orthologs": [ { "uniprot_canonical_ac": "P05373-1", "protein_name": "Delta-aminolevulinic acid dehydratase", "gene_name": "HEM2", "tax_id": 559292, "organism": "Saccharomyces cerevisiae S288C", "sequence": { "sequence": "MHTAEFLETEPTEISSVLAGGYNHPLLRQWQSERQLTKNMLIFPLFISDNPDDFTEIDSLPNINRIGVNRLKDYLKPLVAKGLRSVILFGVPLIPGTKDPVGTAADDPAGPVIQGIKFIREYFPELYIICDVCLCEYTSHGHCGVLYDDGTINRERSVSRLAAVAVNYAKAGAHCVAPSDMIDGRIRDIKRGLINANLAHKTFVLSYAAKFSGNLYGPFRDAACSAPSNGDRKCYQLPPAGRGLARRALERDMSEGADGIIVKPSTFYLDIMRDASEICKDLPICAYHVSGEYAMLHAAAEKGVVDLKTIAFESHQGFLRAGARLIITYLAPEFLDWLDEEN", "length": 342 }, "evidence": [ { "id": "P13716", "url": "https://omabrowser.org/oma/group/P13716/", "database": "OMA" } ], "common_name": "Yeast" }, { "uniprot_canonical_ac": "P06214-1", "protein_name": "Delta-aminolevulinic acid dehydratase", "gene_name": "Alad", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MHHQSVLHSGYFHPLLRAWQTTPSTVSATNLIYPIFVTDVPDDVQPIASLPGVARYGVNQLEEMLRPLVEAGLRCVLIFGVPSRVPKDEQGSAADSEDSPTIEAVRLLRKTFPTLLVACDVCLCPYTSHGHCGLLSENGAFLAEESRQRLAEVALAYAKAGCQVVAPSDMMDGRVEAIKAALLKHGLGNRVSVMSYSAKFASCFYGPFRDAAQSSPAFGDRRCYQLPPGARGLALRAVARDIQEGADILMVKPGLPYLDMVQEVKDKHPELPLAVYQVSGEFAMLWHGAKAGAFDLRTAVLESMTAFRRAGADIIITYFAPQLLKWLKEE", "length": 330 }, "evidence": [ { "id": "45930377", "url": "http://www.informatics.jax.org/homology/45930377", "database": "MGI" }, { "id": "P13716", "url": "https://omabrowser.org/oma/group/P13716/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P10518-1", "protein_name": "Delta-aminolevulinic acid dehydratase", "gene_name": "Alad", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MHHQSVLHSGYFHPLLRSWQTAASTVSASNLIYPIFVTDVPDDVQPIASLPGVARYGVNQLEEMLRPLVEAGLRCVLIFGVPSRVPKDEQGSAADSEDSPTIEAVRLLRKTFPSLLVACDVCLCPYTSHGHCGLLSENGAFLAEESRQRLAEVALAYAKAGCQVVAPSDMMDGRVEAIKAALLKHGLGNRVSVMSYSAKFASCFYGPFRDAAQSSPAFGDRRCYQLPPGARGLALRAVARDIQEGADMLMVKPGLPYLDMVREVKDKHPELPLAVYQVSGEFAMLWHGAQAGAFDLRTAVLETMTAFRRAGADIIITYFAPQLLKWLKEE", "length": 330 }, "evidence": [ { "id": "45930377", "url": "http://www.informatics.jax.org/homology/45930377", "database": "MGI" }, { "id": "P13716", "url": "https://omabrowser.org/oma/group/P13716/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9VTV9-1", "protein_name": "Delta-aminolevulinic acid dehydratase", "gene_name": "Pbgs", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MERKLHSGMHHATLRQLQESGCEIAPHNLMYPVFIVSNDDDVQPIASMPGISRFGLNRLKEHLEPLVAKGLSSVLLFGVVDPDMKDEQASNADSAKNPVVLALPKLREWFPDLLIACDVCICPYSSHGHCGLLGETGLENGPSIKRIAEIAVAYAKAGAHIVAPSDMMDNRVKAIKQALIDAQMNSVSLLAYSAKFTSNFYGPFREAAQSAPKFGDRRCYQLPSGSRSLAMRAIQRDVAEGADMLMVKPGMPYLDILRSTKDSYPYHTLYVYQVSGEFAMLYHAAKAGAFDLKDAVLEAMKGFRRAGADCIITYYTPFLLDIIGKVK", "length": 327 }, "evidence": [ { "id": "P13716", "url": "https://omabrowser.org/oma/group/P13716/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 6, "go_terms": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" } ], "pmid": "" }, { "name": "porphobilinogen synthase activity", "id": "GO:0004655", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004655", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" } ], "pmid": "" }, { "name": "catalytic activity", "id": "GO:0003824", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003824", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" } ], "pmid": "" }, { "name": "proteasome core complex binding", "id": "GO:1904854", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904854", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 29, "go_terms": [ { "name": "protoporphyrinogen IX biosynthetic process", "id": "GO:0006782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006782", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" } ], "pmid": "" }, { "name": "heme biosynthetic process", "id": "GO:0006783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006783", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" } ], "pmid": "" }, { "name": "response to arsenic-containing substance", "id": "GO:0046685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046685", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" } ], "pmid": "" }, { "name": "response to zinc ion", "id": "GO:0010043", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010043", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" } ], "pmid": "" }, { "name": "protein homooligomerization", "id": "GO:0051260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051260", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" } ], "pmid": "" }, { "name": "response to glucocorticoid", "id": "GO:0051384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051384", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" } ], "pmid": "" }, { "name": "response to vitamin E", "id": "GO:0033197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033197", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" } ], "pmid": "" }, { "name": "response to cadmium ion", "id": "GO:0046686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046686", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" } ], "pmid": "" }, { "name": "response to ionizing radiation", "id": "GO:0010212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010212", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" } ], "pmid": "" }, { "name": "response to activity", "id": "GO:0014823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014823", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" } ], "pmid": "" }, { "name": "response to aluminum ion", "id": "GO:0010044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010044", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" } ], "pmid": "" }, { "name": "response to selenium ion", "id": "GO:0010269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010269", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" } ], "pmid": "" }, { "name": "response to amino acid", "id": "GO:0043200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043200", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" } ], "pmid": "" }, { "name": "response to methylmercury", "id": "GO:0051597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051597", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" } ], "pmid": "" }, { "name": "response to iron ion", "id": "GO:0010039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010039", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" } ], "pmid": "" }, { "name": "response to mercury ion", "id": "GO:0046689", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046689", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" } ], "pmid": "" }, { "name": "response to cobalt ion", "id": "GO:0032025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032025", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" } ], "pmid": "" }, { "name": "cellular response to lead ion", "id": "GO:0071284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071284", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" } ], "pmid": "" }, { "name": "cellular response to interleukin-4", "id": "GO:0071353", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071353", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" } ], "pmid": "" }, { "name": "response to herbicide", "id": "GO:0009635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009635", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" } ], "pmid": "" }, { "name": "response to fatty acid", "id": "GO:0070542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070542", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" } ], "pmid": "" }, { "name": "negative regulation of proteasomal protein catabolic process", "id": "GO:1901799", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901799", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" } ], "pmid": "" }, { "name": "response to platinum ion", "id": "GO:0070541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070541", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" } ], "pmid": "" }, { "name": "response to vitamin B1", "id": "GO:0010266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010266", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 6, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" } ], "pmid": "" }, { "name": "secretory granule lumen", "id": "GO:0034774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034774", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" } ], "pmid": "" }, { "name": "ficolin-1-rich granule lumen", "id": "GO:1904813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904813", "evidence": [ { "database": "UniProtKB", "id": "P13716", "url": "https://www.uniprot.org/uniprot/P13716" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 27, "end_pos": 29, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "24064", "name": "", "equation": "2 5-aminolevulinate = H(+) + 2 H2O + porphobilinogen", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P06214-1", "P13716-1", "P10518-1", "P05373-1", "Q55E06-1", "Q9VTV9-1" ], "evidence": [ { "id": "24064", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/24064" } ] }, { "id": "R-HSA-189439", "name": "ALAD condenses 2 dALAs to form PBG", "equation": "", "summary": "5-Aminolevulinic acid dehydratase (ALAD aka porphobilinogen synthase, PBGS), catalyzes the asymmetric condensation of two molecules of ALA to form porphobilinogen (PBG). The substrate that becomes the acetyl side chain-containing half of PBG is called A-side ALA; the half that becomes the propionyl side chains and the pyrrole nitrogen is called P-ALA (Jaffe 2004). PBG is the first pyrrole formed, the precursor to all tetrapyrrole pigments such as heme and chlorophyll. There are at least eight bonds that are made or broken during this reaction. The active form of the ALAD enzyme is an octamer complexed with eight Zn2+ ions, four that are strongly bound and four that are weakly bound. The four weakly bound ones are dispensible for enzyme activity in vitro (Bevan et al. 1980; Mitchell et al. 2001).
Deficiencies of ALAD enzyme in vivo are associated with 5-aminolevulinate dehydratase-deficient porphyria (e.g., Akagi et al. 2000).", "cellular_location": "cytosol", "input_participant_list": [ "R-ALL-189489" ], "output_participant_list": [], "enzyme_list": [ "P13716-1" ], "evidence": [ { "id": "R-HSA-189439", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189439" } ] }, { "id": "R-HSA-190141", "name": "ALAD binds to Pb2+", "equation": "", "summary": "Lead binds to ALAD enzyme displacing half the zinc ions essential for its catalytic activity and inactivating it. Lead is a major environmental toxin and this enzyme is one of its principal molecular targets (Jaffe et al. 2001).", "cellular_location": "cytosol", "input_participant_list": [ "R-ALL-190173" ], "output_participant_list": [], "enzyme_list": [ "P13716-1" ], "evidence": [ { "id": "R-HSA-190141", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-190141" } ] }, { "id": "R-HSA-6798748", "name": "Exocytosis of secretory granule lumen proteins", "equation": "", "summary": "Secretory vesicles provide a reservoir of secreted proteins and membrane-associated receptors that are required at the earliest stages of the neutrophil-mediated inflammatory response. They are mobilized in response to a wide variety of inflammatory stimuli (Sengelov et al. 1993a,b). Resultant cell surface changes allow the neutrophil to establish firm contact with activated vascular epithelium (Faurschou & Borregaard 2003).", "cellular_location": "extracellular region, secretory granule lumen", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P18669-1", "Q13464-1", "P32320-1", "P09917-1", "O00487-1", "P13639-1", "P12268-1", "P62937-1", "Q96G03-1", "P68402-1", "Q99436-1", "P55072-1", "P68104-1", "P11142-1", "Q9Y315-1", "P13010-1", "P04075-1", "P09972-1", "P07900-1", "P09769-1", "P09211-1", "Q16539-1", "P14618-1", "P07741-1", "Q01432-1", "P12956-1", "Q7Z6Z7-1", "Q9UNP9-1", "P14174-1", "P04040-1", "O00571-1", "P06744-1", "P52790-1", "P11678-1", "P00491-1", "P06737-1", "P00746-1", "Q13162-1", "P17858-1", "P46976-1", "P22392-1", "P13716-1", "O75874-1", "P20839-1", "O00764-1" ], "evidence": [ { "id": "R-HSA-6798748", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798748" } ] }, { "id": "R-HSA-6800434", "name": "Exocytosis of ficolin-rich granule lumen proteins", "equation": "", "summary": "Ficoli-1 rich granules are a relatively new fourth neutrophil granule population that is enriched in the microbial lectin ficolin-1. Ficolin-1 is present in tertiary granules, but ficolin-1 rich granules can be differentiated by having low levels of gelatinases and an elevated exocytosis propensity (Rorvig et al. 2009, 2013). The importance of these granules may be to provide rapid release of pattern recognition molecules to activate the lectin complement pathway (Rorvig et al. 2009).", "cellular_location": "extracellular region, ficolin-1-rich granule lumen", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9UBR2-1", "P18669-1", "P32320-1", "P09917-1", "O00487-1", "P13639-1", "P12268-1", "P62937-1", "P15586-1", "Q96G03-1", "Q9P0J7-1", "P68402-1", "P36871-1", "Q99436-1", "P07339-1", "P13798-1", "P53396-1", "P55072-1", "P68104-1", "P11142-1", "Q9Y315-1", "P04075-1", "P09972-1", "P07900-1", "P09211-1", "Q16539-1", "P07858-1", "P14618-1", "P28482-1", "Q01432-1", "P12956-1", "Q7Z6Z7-1", "Q9UNP9-1", "Q13510-1", "P14174-1", "P15848-1", "P16278-1", "Q8WVQ1-1", "P04040-1", "O00571-1", "P14780-1", "P06744-1", "P52790-1", "P00491-1", "P06737-1", "Q16769-1", "P08236-1", "P02794-1", "P07384-1", "Q14004-1", "P00746-1", "P98066-1", "P25774-1", "Q13162-1", "P17858-1", "P46976-1", "P09960-1", "P22392-1", "P13716-1", "O75874-1", "P20839-1" ], "evidence": [ { "id": "R-HSA-6800434", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6800434" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-189489", "participant_name": "dALA [cytosol]", "crossref": [ { "id": "356416", "database": "ChEBI", "url": "" }, { "id": "000003782550", "database": "ZINC", "url": "" }, { "id": "356416", "database": "ChEBI", "url": "" }, { "id": "000003782550", "database": "ZINC", "url": "" }, { "id": "000003782550", "database": "ZINC", "url": "" }, { "id": "356416", "database": "ChEBI", "url": "" }, { "id": "356416", "database": "ChEBI", "url": "" }, { "id": "000003782550", "database": "ZINC", "url": "" }, { "id": "356416", "database": "ChEBI", "url": "" }, { "id": "000003782550", "database": "ZINC", "url": "" }, { "id": "000003782550", "database": "ZINC", "url": "" }, { "id": "356416", "database": "ChEBI", "url": "" }, { "id": "000003782550", "database": "ZINC", "url": "" }, { "id": "356416", "database": "ChEBI", "url": "" } ] }, { "participant_id": "R-ALL-190173", "participant_name": "Pb2+ [cytosol]", "crossref": [ { "id": "C06696", "database": "COMPOUND", "url": "" }, { "id": "27889", "database": "ChEBI", "url": "" }, { "id": "27889", "database": "ChEBI", "url": "" }, { "id": "C06696", "database": "COMPOUND", "url": "" }, { "id": "27889", "database": "ChEBI", "url": "" }, { "id": "C06696", "database": "COMPOUND", "url": "" }, { "id": "27889", "database": "ChEBI", "url": "" }, { "id": "C06696", "database": "COMPOUND", "url": "" }, { "id": "27889", "database": "ChEBI", "url": "" }, { "id": "C06696", "database": "COMPOUND", "url": "" }, { "id": "27889", "database": "ChEBI", "url": "" }, { "id": "C06696", "database": "COMPOUND", "url": "" }, { "id": "C06696", "database": "COMPOUND", "url": "" }, { "id": "27889", "database": "ChEBI", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "O00487", "gene_name": "PSMD14", "activity": [ { "ec_number": "3.4.19.-", "activity": "", "evidence": [ { "id": "O00487", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00487" } ] } ] }, { "uniprot_ac": "O00571", "gene_name": "DDX3X", "activity": [ { "ec_number": "3.6.4.13", "activity": "ATP + H2O = ADP + H(+) + phosphate.", "evidence": [ { "id": "O00571", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00571" } ] }, { "ec_number": "3.6.4.13", "activity": "", "evidence": [ { "id": "O00571", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00571" } ] } ] }, { "uniprot_ac": "O00764", "gene_name": "PDXK", "activity": [ { "ec_number": "2.7.1.35", "activity": "ATP + pyridoxal = ADP + H(+) + pyridoxal 5'-phosphate.", "evidence": [ { "id": "O00764", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00764" } ] }, { "ec_number": "2.7.1.35", "activity": "", "evidence": [ { "id": "O00764", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00764" } ] } ] }, { "uniprot_ac": "O75874", "gene_name": "IDH1", "activity": [ { "ec_number": "1.1.1.42", "activity": "D-threo-isocitrate + NADP(+) = 2-oxoglutarate + CO2 + NADPH.", "evidence": [ { "id": "O75874", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75874" } ] }, { "ec_number": "1.1.1.42", "activity": "", "evidence": [ { "id": "O75874", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75874" } ] } ] }, { "uniprot_ac": "P00491", "gene_name": "PNP", "activity": [ { "ec_number": "2.4.2.1", "activity": "a purine 2'-deoxy-D-ribonucleoside + phosphate = 2-deoxy-alpha-D-ribose 1-phosphate + a purine nucleobase.", "evidence": [ { "id": "P00491", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00491" } ] }, { "ec_number": "2.4.2.1", "activity": "", "evidence": [ { "id": "P00491", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00491" } ] } ] }, { "uniprot_ac": "P00746", "gene_name": "CFD", "activity": [ { "ec_number": "3.4.21.46", "activity": "Selective cleavage of Arg-|-Lys bond in complement factor B when in complex with complement subcomponent C3b or with cobra venom factor.", "evidence": [ { "id": "P00746", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00746" } ] }, { "ec_number": "3.4.21.46", "activity": "", "evidence": [ { "id": "P00746", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00746" } ] } ] }, { "uniprot_ac": "P02794", "gene_name": "FTH1", "activity": [ { "ec_number": "1.16.3.1", "activity": "4 Fe(2+) + 4 H(+) + O2 = 4 Fe(3+) + 2 H2O.", "evidence": [ { "id": "P02794", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P02794" } ] }, { "ec_number": "1.16.3.1", "activity": "", "evidence": [ { "id": "P02794", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P02794" } ] } ] }, { "uniprot_ac": "P04040", "gene_name": "CAT", "activity": [ { "ec_number": "1.11.1.6", "activity": "2 H2O2 = 2 H2O + O2.", "evidence": [ { "id": "P04040", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04040" } ] }, { "ec_number": "1.11.1.6", "activity": "", "evidence": [ { "id": "P04040", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04040" } ] } ] }, { "uniprot_ac": "P04075", "gene_name": "ALDOA", "activity": [ { "ec_number": "4.1.2.13", "activity": "beta-D-fructose 1,6-bisphosphate = D-glyceraldehyde 3-phosphate + dihydroxyacetone phosphate.", "evidence": [ { "id": "P04075", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04075" } ] }, { "ec_number": "4.1.2.13", "activity": "", "evidence": [ { "id": "P04075", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04075" } ] } ] }, { "uniprot_ac": "P05373", "gene_name": "HEM2", "activity": [ { "ec_number": "4.2.1.24", "activity": "2 5-aminolevulinate = H(+) + 2 H2O + porphobilinogen.", "evidence": [ { "id": "P05373", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05373" } ] }, { "ec_number": "4.2.1.24", "activity": "", "evidence": [ { "id": "P05373", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05373" } ] } ] }, { "uniprot_ac": "P06214", "gene_name": "Alad", "activity": [ { "ec_number": "4.2.1.24", "activity": "2 5-aminolevulinate = H(+) + 2 H2O + porphobilinogen.", "evidence": [ { "id": "P06214", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06214" } ] }, { "ec_number": "4.2.1.24", "activity": "", "evidence": [ { "id": "P06214", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06214" } ] } ] }, { "uniprot_ac": "P06737", "gene_name": "PYGL", "activity": [ { "ec_number": "2.4.1.1", "activity": "[(1->4)-alpha-D-glucosyl](n) + phosphate = [(1->4)-alpha-D-glucosyl](n-1) + alpha-D-glucose 1-phosphate.", "evidence": [ { "id": "P06737", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06737" } ] }, { "ec_number": "2.4.1.1", "activity": "", "evidence": [ { "id": "P06737", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06737" } ] } ] }, { "uniprot_ac": "P06744", "gene_name": "GPI", "activity": [ { "ec_number": "5.3.1.9", "activity": "alpha-D-glucose 6-phosphate = beta-D-fructose 6-phosphate.", "evidence": [ { "id": "P06744", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06744" } ] }, { "ec_number": "5.3.1.9", "activity": "", "evidence": [ { "id": "P06744", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06744" } ] } ] }, { "uniprot_ac": "P07339", "gene_name": "CTSD", "activity": [ { "ec_number": "3.4.23.5", "activity": "Specificity similar to, but narrower than, that of pepsin A. Does not cleave the 4-Gln-|-His-5 bond in B chain of insulin.", "evidence": [ { "id": "P07339", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07339" } ] }, { "ec_number": "3.4.23.5", "activity": "", "evidence": [ { "id": "P07339", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07339" } ] } ] }, { "uniprot_ac": "P07384", "gene_name": "CAPN1", "activity": [ { "ec_number": "3.4.22.52", "activity": "Broad endopeptidase specificity.", "evidence": [ { "id": "P07384", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07384" } ] }, { "ec_number": "3.4.22.52", "activity": "", "evidence": [ { "id": "P07384", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07384" } ] } ] }, { "uniprot_ac": "P07741", "gene_name": "APRT", "activity": [ { "ec_number": "2.4.2.7", "activity": "AMP + diphosphate = 5-phospho-alpha-D-ribose 1-diphosphate + adenine.", "evidence": [ { "id": "P07741", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07741" } ] }, { "ec_number": "2.4.2.7", "activity": "", "evidence": [ { "id": "P07741", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07741" } ] } ] }, { "uniprot_ac": "P07858", "gene_name": "CTSB", "activity": [ { "ec_number": "3.4.22.1", "activity": "Hydrolysis of proteins with broad specificity for peptide bonds. Preferentially cleaves -Arg-Arg-|-Xaa bonds in small molecule substrates (thus differing from cathepsin L). In addition to being an endopeptidase, shows peptidyl-dipeptidase activity, liberating C-terminal dipeptides.", "evidence": [ { "id": "P07858", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07858" } ] }, { "ec_number": "3.4.22.1", "activity": "", "evidence": [ { "id": "P07858", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07858" } ] } ] }, { "uniprot_ac": "P07900", "gene_name": "HSP90AA1", "activity": [ { "ec_number": "3.6.4.10", "activity": "ATP + H2O = ADP + H(+) + phosphate.", "evidence": [ { "id": "P07900", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07900" } ] }, { "ec_number": "3.6.4.10", "activity": "", "evidence": [ { "id": "P07900", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07900" } ] } ] }, { "uniprot_ac": "P08236", "gene_name": "GUSB", "activity": [ { "ec_number": "3.2.1.31", "activity": "a beta-D-glucuronoside + H2O = an alcohol + D-glucuronate.", "evidence": [ { "id": "P08236", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08236" } ] }, { "ec_number": "3.2.1.31", "activity": "", "evidence": [ { "id": "P08236", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08236" } ] } ] }, { "uniprot_ac": "P09211", "gene_name": "GSTP1", "activity": [ { "ec_number": "2.5.1.18", "activity": "glutathione + RX = a halide anion + an S-substituted glutathione + H(+).", "evidence": [ { "id": "P09211", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09211" } ] }, { "ec_number": "2.5.1.18", "activity": "", "evidence": [ { "id": "P09211", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09211" } ] } ] }, { "uniprot_ac": "P09769", "gene_name": "FGR", "activity": [ { "ec_number": "2.7.10.2", "activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].", "evidence": [ { "id": "P09769", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09769" } ] }, { "ec_number": "2.7.10.2", "activity": "", "evidence": [ { "id": "P09769", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09769" } ] } ] }, { "uniprot_ac": "P09917", "gene_name": "ALOX5", "activity": [ { "ec_number": "1.13.11.-", "activity": "", "evidence": [ { "id": "P09917", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09917" } ] }, { "ec_number": "1.13.11.34", "activity": "(5Z,8Z,11Z,14Z)-eicosatetraenoate + O2 = H2O + leukotriene A4.", "evidence": [ { "id": "P09917", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09917" } ] } ] }, { "uniprot_ac": "P09960", "gene_name": "LTA4H", "activity": [ { "ec_number": "3.3.2.6", "activity": "H2O + leukotriene A4 = leukotriene B4.", "evidence": [ { "id": "P09960", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09960" } ] }, { "ec_number": "3.4.11.4", "activity": "Release of the N-terminal residue from a tripeptide.", "evidence": [ { "id": "P09960", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09960" } ] }, { "ec_number": "3.3.2.6", "activity": "", "evidence": [ { "id": "P09960", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09960" } ] } ] }, { "uniprot_ac": "P09972", "gene_name": "ALDOC", "activity": [ { "ec_number": "4.1.2.13", "activity": "beta-D-fructose 1,6-bisphosphate = D-glyceraldehyde 3-phosphate + dihydroxyacetone phosphate.", "evidence": [ { "id": "P09972", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09972" } ] }, { "ec_number": "4.1.2.13", "activity": "", "evidence": [ { "id": "P09972", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09972" } ] } ] }, { "uniprot_ac": "P10518", "gene_name": "Alad", "activity": [ { "ec_number": "4.2.1.24", "activity": "2 5-aminolevulinate = H(+) + 2 H2O + porphobilinogen.", "evidence": [ { "id": "P10518", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10518" } ] }, { "ec_number": "4.2.1.24", "activity": "", "evidence": [ { "id": "P10518", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10518" } ] } ] }, { "uniprot_ac": "P11142", "gene_name": "HSPA8", "activity": [ { "ec_number": "3.6.4.10", "activity": "ATP + H2O = ADP + H(+) + phosphate.", "evidence": [ { "id": "P11142", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11142" } ] }, { "ec_number": "3.6.4.10", "activity": "", "evidence": [ { "id": "P11142", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11142" } ] } ] }, { "uniprot_ac": "P11678", "gene_name": "EPX", "activity": [ { "ec_number": "1.11.1.7", "activity": "2 a phenolic donor + H2O2 = 2 a phenolic radical donor + 2 H2O.", "evidence": [ { "id": "P11678", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11678" } ] }, { "ec_number": "1.11.1.7", "activity": "", "evidence": [ { "id": "P11678", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11678" } ] } ] }, { "uniprot_ac": "P12268", "gene_name": "IMPDH2", "activity": [ { "ec_number": "1.1.1.205", "activity": "H2O + IMP + NAD(+) = H(+) + NADH + XMP.", "evidence": [ { "id": "P12268", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12268" } ] }, { "ec_number": "1.1.1.205", "activity": "", "evidence": [ { "id": "P12268", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12268" } ] } ] }, { "uniprot_ac": "P12956", "gene_name": "XRCC6", "activity": [ { "ec_number": "4.2.99.-", "activity": "", "evidence": [ { "id": "P12956", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12956" } ] }, { "ec_number": "3.6.4.-", "activity": "", "evidence": [ { "id": "P12956", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12956" } ] } ] }, { "uniprot_ac": "P13010", "gene_name": "XRCC5", "activity": [ { "ec_number": "3.6.4.-", "activity": "", "evidence": [ { "id": "P13010", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13010" } ] } ] }, { "uniprot_ac": "P13639", "gene_name": "EEF2", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P13639", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13639" } ] } ] }, { "uniprot_ac": "P13716", "gene_name": "ALAD", "activity": [ { "ec_number": "4.2.1.24", "activity": "2 5-aminolevulinate = H(+) + 2 H2O + porphobilinogen.", "evidence": [ { "id": "P13716", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13716" } ] }, { "ec_number": "4.2.1.24", "activity": "", "evidence": [ { "id": "P13716", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13716" } ] } ] }, { "uniprot_ac": "P13798", "gene_name": "APEH", "activity": [ { "ec_number": "3.4.19.1", "activity": "Internal cleavage of oxidized and glycated proteins.", "evidence": [ { "id": "P13798", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13798" } ] }, { "ec_number": "3.4.19.1", "activity": "", "evidence": [ { "id": "P13798", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13798" } ] } ] }, { "uniprot_ac": "P14174", "gene_name": "MIF", "activity": [ { "ec_number": "5.3.2.1", "activity": "3-phenylpyruvate = enol-phenylpyruvate.", "evidence": [ { "id": "P14174", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14174" } ] }, { "ec_number": "5.3.3.12", "activity": "L-dopachrome = 5,6-dihydroxyindole-2-carboxylate.", "evidence": [ { "id": "P14174", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14174" } ] }, { "ec_number": "5.3.2.1", "activity": "", "evidence": [ { "id": "P14174", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14174" } ] } ] }, { "uniprot_ac": "P14618", "gene_name": "PKM", "activity": [ { "ec_number": "2.7.1.40", "activity": "CTP + pyruvate = CDP + H(+) + phosphoenolpyruvate.", "evidence": [ { "id": "P14618", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14618" } ] }, { "ec_number": "2.7.1.40", "activity": "", "evidence": [ { "id": "P14618", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14618" } ] }, { "ec_number": "2.7.10.2", "activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].", "evidence": [ { "id": "P14618", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14618" } ] }, { "ec_number": "2.7.11.1", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "P14618", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14618" } ] } ] }, { "uniprot_ac": "P14780", "gene_name": "MMP9", "activity": [ { "ec_number": "3.4.24.35", "activity": "Cleavage of gelatin types I and V and collagen types IV and V.", "evidence": [ { "id": "P14780", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14780" } ] }, { "ec_number": "3.4.24.35", "activity": "", "evidence": [ { "id": "P14780", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14780" } ] } ] }, { "uniprot_ac": "P15586", "gene_name": "GNS", "activity": [ { "ec_number": "3.1.6.14", "activity": "Hydrolysis of the 6-sulfate groups of the N-acetyl-D-glucosamine 6-sulfate units of heparan sulfate and keratan sulfate.", "evidence": [ { "id": "P15586", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15586" } ] }, { "ec_number": "3.1.6.14", "activity": "", "evidence": [ { "id": "P15586", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15586" } ] } ] }, { "uniprot_ac": "P15848", "gene_name": "ARSB", "activity": [ { "ec_number": "3.1.6.12", "activity": "Hydrolysis of the 4-sulfate groups of the N-acetyl-D-galactosamine 4-sulfate units of chondroitin sulfate and dermatan sulfate.", "evidence": [ { "id": "P15848", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15848" } ] }, { "ec_number": "3.1.6.12", "activity": "", "evidence": [ { "id": "P15848", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15848" } ] } ] }, { "uniprot_ac": "P16278", "gene_name": "GLB1", "activity": [ { "ec_number": "3.2.1.23", "activity": "Hydrolysis of terminal non-reducing beta-D-galactose residues in beta-D-galactosides.", "evidence": [ { "id": "P16278", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P16278" } ] }, { "ec_number": "3.2.1.23", "activity": "", "evidence": [ { "id": "P16278", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P16278" } ] } ] }, { "uniprot_ac": "P17858", "gene_name": "PFKL", "activity": [ { "ec_number": "2.7.1.11", "activity": "ATP + beta-D-fructose 6-phosphate = ADP + beta-D-fructose 1,6-bisphosphate + H(+).", "evidence": [ { "id": "P17858", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P17858" } ] }, { "ec_number": "2.7.1.11", "activity": "", "evidence": [ { "id": "P17858", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P17858" } ] } ] }, { "uniprot_ac": "P18669", "gene_name": "PGAM1", "activity": [ { "ec_number": "5.4.2.11", "activity": "(2R)-2-phosphoglycerate = (2R)-3-phosphoglycerate.", "evidence": [ { "id": "P18669", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P18669" } ] }, { "ec_number": "5.4.2.4", "activity": "(2R)-3-phospho-glyceroyl phosphate = (2R)-2,3-bisphosphoglycerate + H(+).", "evidence": [ { "id": "P18669", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P18669" } ] }, { "ec_number": "5.4.2.4", "activity": "", "evidence": [ { "id": "P18669", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P18669" } ] }, { "ec_number": "5.4.2.11", "activity": "", "evidence": [ { "id": "P18669", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P18669" } ] } ] }, { "uniprot_ac": "P20839", "gene_name": "IMPDH1", "activity": [ { "ec_number": "1.1.1.205", "activity": "H2O + IMP + NAD(+) = H(+) + NADH + XMP.", "evidence": [ { "id": "P20839", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20839" } ] }, { "ec_number": "1.1.1.205", "activity": "", "evidence": [ { "id": "P20839", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20839" } ] } ] }, { "uniprot_ac": "P22392", "gene_name": "NME2", "activity": [ { "ec_number": "2.7.4.6", "activity": "a ribonucleoside 5'-diphosphate + ATP = a ribonucleoside 5'-triphosphate + ADP.", "evidence": [ { "id": "P22392", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22392" } ] }, { "ec_number": "2.7.13.3", "activity": "ATP + protein L-histidine = ADP + protein N-phospho-L-histidine.", "evidence": [ { "id": "P22392", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22392" } ] }, { "ec_number": "2.7.4.6", "activity": "", "evidence": [ { "id": "P22392", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22392" } ] }, { "ec_number": "2.7.13.3", "activity": "", "evidence": [ { "id": "P22392", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22392" } ] } ] }, { "uniprot_ac": "P25774", "gene_name": "CTSS", "activity": [ { "ec_number": "3.4.22.27", "activity": "Similar to cathepsin L, but with much less activity on Z-Phe-Arg-|-NHMec, and more activity on the Z-Val-Val-Arg-|-Xaa compound.", "evidence": [ { "id": "P25774", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P25774" } ] }, { "ec_number": "3.4.22.27", "activity": "", "evidence": [ { "id": "P25774", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P25774" } ] } ] }, { "uniprot_ac": "P28482", "gene_name": "MAPK1", "activity": [ { "ec_number": "2.7.11.24", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "P28482", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28482" } ] }, { "ec_number": "2.7.11.24", "activity": "", "evidence": [ { "id": "P28482", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28482" } ] } ] }, { "uniprot_ac": "P32320", "gene_name": "CDA", "activity": [ { "ec_number": "3.5.4.5", "activity": "2'-deoxycytidine + H(+) + H2O = 2'-deoxyuridine + NH4(+).", "evidence": [ { "id": "P32320", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P32320" } ] }, { "ec_number": "3.5.4.5", "activity": "", "evidence": [ { "id": "P32320", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P32320" } ] } ] }, { "uniprot_ac": "P36871", "gene_name": "PGM1", "activity": [ { "ec_number": "5.4.2.2", "activity": "alpha-D-glucose 1-phosphate = alpha-D-glucose 6-phosphate.", "evidence": [ { "id": "P36871", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P36871" } ] }, { "ec_number": "5.4.2.2", "activity": "", "evidence": [ { "id": "P36871", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P36871" } ] } ] }, { "uniprot_ac": "P46976", "gene_name": "GYG1", "activity": [ { "ec_number": "2.4.1.186", "activity": "[1,4-alpha-D-glucosyl](n)-L-tyrosyl-[glycogenin] + UDP-alpha-D-glucose = [1,4-alpha-D-glucosyl](n+1)-L-tyrosyl-[glycogenin] + H(+) + UDP.", "evidence": [ { "id": "P46976", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P46976" } ] }, { "ec_number": "2.4.1.186", "activity": "", "evidence": [ { "id": "P46976", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P46976" } ] } ] }, { "uniprot_ac": "P52790", "gene_name": "HK3", "activity": [ { "ec_number": "2.7.1.1", "activity": "ATP + D-fructose = ADP + D-fructose 6-phosphate + H(+).", "evidence": [ { "id": "P52790", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P52790" } ] }, { "ec_number": "2.7.1.1", "activity": "", "evidence": [ { "id": "P52790", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P52790" } ] }, { "ec_number": "2.7.1.-", "activity": "", "evidence": [ { "id": "P52790", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P52790" } ] } ] }, { "uniprot_ac": "P53396", "gene_name": "ACLY", "activity": [ { "ec_number": "2.3.3.8", "activity": "acetyl-CoA + ADP + oxaloacetate + phosphate = ATP + citrate + CoA.", "evidence": [ { "id": "P53396", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53396" } ] }, { "ec_number": "2.3.3.8", "activity": "", "evidence": [ { "id": "P53396", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53396" } ] } ] }, { "uniprot_ac": "P55072", "gene_name": "VCP", "activity": [ { "ec_number": "3.6.4.6", "activity": "ATP + H2O = ADP + H(+) + phosphate.", "evidence": [ { "id": "P55072", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P55072" } ] }, { "ec_number": "3.6.4.6", "activity": "", "evidence": [ { "id": "P55072", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P55072" } ] } ] }, { "uniprot_ac": "P62937", "gene_name": "PPIA", "activity": [ { "ec_number": "5.2.1.8", "activity": "[protein]-peptidylproline (omega=180) = [protein]-peptidylproline (omega=0).", "evidence": [ { "id": "P62937", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62937" } ] }, { "ec_number": "5.2.1.8", "activity": "", "evidence": [ { "id": "P62937", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62937" } ] } ] }, { "uniprot_ac": "P68104", "gene_name": "EEF1A1", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P68104", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P68104" } ] } ] }, { "uniprot_ac": "P68402", "gene_name": "PAFAH1B2", "activity": [ { "ec_number": "3.1.1.47", "activity": "a 1-O-alkyl-2-acetyl-sn-glycero-3-phosphocholine + H2O = 1-O-alkyl-sn-glycero-3-phosphocholine + acetate + H(+).", "evidence": [ { "id": "P68402", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P68402" } ] }, { "ec_number": "3.1.1.47", "activity": "", "evidence": [ { "id": "P68402", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P68402" } ] } ] }, { "uniprot_ac": "P98066", "gene_name": "TNFAIP6", "activity": [ { "ec_number": "3.1.1.-", "activity": "", "evidence": [ { "id": "P98066", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P98066" } ] } ] }, { "uniprot_ac": "Q01432", "gene_name": "AMPD3", "activity": [ { "ec_number": "3.5.4.6", "activity": "AMP + H(+) + H2O = IMP + NH4(+).", "evidence": [ { "id": "Q01432", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q01432" } ] }, { "ec_number": "3.5.4.6", "activity": "", "evidence": [ { "id": "Q01432", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q01432" } ] } ] }, { "uniprot_ac": "Q13162", "gene_name": "PRDX4", "activity": [ { "ec_number": "1.11.1.24", "activity": "[thioredoxin]-dithiol + a hydroperoxide = [thioredoxin]-disulfide + an alcohol + H2O.", "evidence": [ { "id": "Q13162", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13162" } ] }, { "ec_number": "1.11.1.24", "activity": "", "evidence": [ { "id": "Q13162", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13162" } ] } ] }, { "uniprot_ac": "Q13464", "gene_name": "ROCK1", "activity": [ { "ec_number": "2.7.11.1", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "Q13464", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13464" } ] }, { "ec_number": "2.7.11.1", "activity": "", "evidence": [ { "id": "Q13464", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13464" } ] } ] }, { "uniprot_ac": "Q13510", "gene_name": "ASAH1", "activity": [ { "ec_number": "3.5.1.23", "activity": "an N-acylsphing-4-enine + H2O = a fatty acid + sphing-4-enine.", "evidence": [ { "id": "Q13510", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13510" } ] }, { "ec_number": "3.5.1.23", "activity": "", "evidence": [ { "id": "Q13510", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13510" } ] }, { "ec_number": "3.5.1.-", "activity": "", "evidence": [ { "id": "Q13510", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13510" } ] } ] }, { "uniprot_ac": "Q14004", "gene_name": "CDK13", "activity": [ { "ec_number": "2.7.11.22", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "Q14004", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q14004" } ] }, { "ec_number": "2.7.11.23", "activity": "[DNA-directed RNA polymerase] + ATP = ADP + H(+) + phospho-[DNA-directed RNA polymerase].", "evidence": [ { "id": "Q14004", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q14004" } ] }, { "ec_number": "2.7.11.22", "activity": "", "evidence": [ { "id": "Q14004", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q14004" } ] }, { "ec_number": "2.7.11.23", "activity": "", "evidence": [ { "id": "Q14004", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q14004" } ] } ] }, { "uniprot_ac": "Q16539", "gene_name": "MAPK14", "activity": [ { "ec_number": "2.7.11.24", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "Q16539", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16539" } ] }, { "ec_number": "2.7.11.24", "activity": "", "evidence": [ { "id": "Q16539", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16539" } ] } ] }, { "uniprot_ac": "Q16769", "gene_name": "QPCT", "activity": [ { "ec_number": "2.3.2.5", "activity": "N-terminal L-glutaminyl-[peptide] = N-terminal 5-oxo-L-prolyl-[peptide] + NH4(+).", "evidence": [ { "id": "Q16769", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16769" } ] }, { "ec_number": "2.3.2.5", "activity": "", "evidence": [ { "id": "Q16769", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16769" } ] } ] }, { "uniprot_ac": "Q55E06", "gene_name": "alad", "activity": [ { "ec_number": "4.2.1.24", "activity": "2 5-aminolevulinate = H(+) + 2 H2O + porphobilinogen.", "evidence": [ { "id": "Q55E06", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q55E06" } ] }, { "ec_number": "4.2.1.24", "activity": "", "evidence": [ { "id": "Q55E06", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q55E06" } ] } ] }, { "uniprot_ac": "Q7Z6Z7", "gene_name": "HUWE1", "activity": [ { "ec_number": "2.3.2.26", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "Q7Z6Z7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7Z6Z7" } ] }, { "ec_number": "2.3.2.26", "activity": "", "evidence": [ { "id": "Q7Z6Z7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7Z6Z7" } ] } ] }, { "uniprot_ac": "Q8WVQ1", "gene_name": "CANT1", "activity": [ { "ec_number": "3.6.1.6", "activity": "ADP + H2O = AMP + H(+) + phosphate.", "evidence": [ { "id": "Q8WVQ1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8WVQ1" } ] }, { "ec_number": "3.6.1.6", "activity": "", "evidence": [ { "id": "Q8WVQ1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8WVQ1" } ] } ] }, { "uniprot_ac": "Q96G03", "gene_name": "PGM2", "activity": [ { "ec_number": "5.4.2.2", "activity": "alpha-D-glucose 1-phosphate = alpha-D-glucose 6-phosphate.", "evidence": [ { "id": "Q96G03", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96G03" } ] }, { "ec_number": "5.4.2.7", "activity": "2-deoxy-alpha-D-ribose 1-phosphate = 2-deoxy-D-ribose 5-phosphate.", "evidence": [ { "id": "Q96G03", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96G03" } ] }, { "ec_number": "5.4.2.7", "activity": "", "evidence": [ { "id": "Q96G03", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96G03" } ] } ] }, { "uniprot_ac": "Q99436", "gene_name": "PSMB7", "activity": [ { "ec_number": "3.4.25.1", "activity": "Cleavage of peptide bonds with very broad specificity.", "evidence": [ { "id": "Q99436", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99436" } ] }, { "ec_number": "3.4.25.1", "activity": "", "evidence": [ { "id": "Q99436", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99436" } ] } ] }, { "uniprot_ac": "Q9P0J7", "gene_name": "KCMF1", "activity": [ { "ec_number": "2.3.2.27", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "Q9P0J7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9P0J7" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q9P0J7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9P0J7" } ] } ] }, { "uniprot_ac": "Q9UBR2", "gene_name": "CTSZ", "activity": [ { "ec_number": "3.4.18.1", "activity": "Release of C-terminal amino acid residues with broad specificity, but lacks action on C-terminal proline. Shows weak endopeptidase activity.", "evidence": [ { "id": "Q9UBR2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UBR2" } ] }, { "ec_number": "3.4.18.1", "activity": "", "evidence": [ { "id": "Q9UBR2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UBR2" } ] } ] }, { "uniprot_ac": "Q9UNP9", "gene_name": "PPIE", "activity": [ { "ec_number": "5.2.1.8", "activity": "[protein]-peptidylproline (omega=180) = [protein]-peptidylproline (omega=0).", "evidence": [ { "id": "Q9UNP9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UNP9" } ] }, { "ec_number": "5.2.1.8", "activity": "", "evidence": [ { "id": "Q9UNP9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UNP9" } ] } ] }, { "uniprot_ac": "Q9VTV9", "gene_name": "Pbgs", "activity": [ { "ec_number": "4.2.1.24", "activity": "2 5-aminolevulinate = H(+) + 2 H2O + porphobilinogen.", "evidence": [ { "id": "Q9VTV9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VTV9" } ] }, { "ec_number": "4.2.1.24", "activity": "", "evidence": [ { "id": "Q9VTV9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VTV9" } ] } ] }, { "uniprot_ac": "Q9Y315", "gene_name": "DERA", "activity": [ { "ec_number": "4.1.2.4", "activity": "2-deoxy-D-ribose 5-phosphate = acetaldehyde + D-glyceraldehyde 3-phosphate.", "evidence": [ { "id": "Q9Y315", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y315" } ] }, { "ec_number": "4.1.2.4", "activity": "", "evidence": [ { "id": "Q9Y315", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y315" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [ 215 ], "sequon_annotation_sites": [ { "start_pos": 27, "end_pos": 29 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 45 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }