{ "uniprot_canonical_ac": "P11766-1", "uniprot_ac": "P11766", "uniprot_id": "ADHX_HUMAN", "mass": { "chemical_mass": 39724.0, "monoisotopic_mass": 39724.0 }, "refseq": { "ac": "NP_000662", "name": "alcohol dehydrogenase class-3", "summary": "This gene encodes a member of the alcohol dehydrogenase family. Members of this family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. The encoded protein forms a homodimer. It has virtually no activity for ethanol oxidation, but exhibits high activity for oxidation of long-chain primary alcohols and for oxidation of S-hydroxymethyl-glutathione, a spontaneous adduct between formaldehyde and glutathione. This enzyme is an important component of cellular metabolism for the elimination of formaldehyde, a potent irritant and sensitizing agent that causes lacrymation, rhinitis, pharyngitis, and contact dermatitis. The human genome contains several non-transcribed pseudogenes related to this gene. [provided by RefSeq, Oct 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000662" }, "gene_names": [ { "name": "ADH5", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P11766", "id": "P11766" }, { "name": "ADH-3; ADHX; AMEDS; BMFS7; FALDH; FDH; GSH-FDH; GSNOR; HEL-S-60p", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000662", "id": "NP_000662" }, { "name": "ADH5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000662", "id": "NP_000662" }, { "name": "ADHX", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P11766", "id": "P11766" }, { "name": "FDH", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P11766", "id": "P11766" } ], "protein_names": [ { "name": "Alcohol dehydrogenase class-3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P11766" }, { "name": "1.1.1.-", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11766" }, { "name": "1.1.1.1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11766" }, { "name": "1.1.1.284", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11766" }, { "name": "Alcohol dehydrogenase 5", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11766" }, { "name": "Alcohol dehydrogenase class chi chain", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11766" }, { "name": "Alcohol dehydrogenase class-III", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11766" }, { "name": "FALDH", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11766" }, { "name": "FDH", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11766" }, { "name": "GSH-FDH", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11766" }, { "name": "Glutathione-dependent formaldehyde dehydrogenase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11766" }, { "name": "S-(hydroxymethyl)glutathione dehydrogenase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11766" }, { "name": "alcohol dehydrogenase class-3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000662", "id": "NP_000662" }, { "name": "formaldehyde dehydrogenase; glutathione-dependent formaldehyde dehydrogenase; alcohol dehydrogenase (class III), chi polypeptide; alcohol dehydrogenase class-III; alcohol dehydrogenase class chi chain; S-(hydroxymethyl)glutathione dehydrogenase; epididymis secretory sperm binding protein Li 60p; S-nitrosoglutathione reductase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000662", "id": "NP_000662" } ], "function": [ { "annotation": "Analysis of disease model iPSCs derived from patients with a novel Fanconi anemia-like IBMFS ADH5/ALDH2 deficiency.", "evidence": [ { "database": "RefSeq", "id": "NP_000662", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000662" }, { "database": "PubMed", "id": "33512438", "url": "https://glygen.org/publication/PubMed/33512438" } ] }, { "annotation": "Catalyzes the oxidation of long-chain primary alcohols and the oxidation of S-(hydroxymethyl) glutathione (PubMed:8460164). Also oxidizes long chain omega-hydroxy fatty acids, such as 20-HETE, producing both the intermediate aldehyde, 20-oxoarachidonate and the end product, a dicarboxylic acid, (5Z,8Z,11Z,14Z)-eicosatetraenedioate (PubMed:16081420). Class-III ADH is remarkably ineffective in oxidizing ethanol (PubMed:8460164). Required for clearance of cellular formaldehyde, a cytotoxic and carcinogenic metabolite that induces DNA damage (PubMed:33355142).", "evidence": [ { "database": "UniProtKB", "id": "P11766", "url": "https://www.uniprot.org/uniprot/P11766#function" }, { "database": "PubMed", "id": "8460164", "url": "https://glygen.org/publication/PubMed/8460164" }, { "database": "PubMed", "id": "16081420", "url": "https://glygen.org/publication/PubMed/16081420" }, { "database": "PubMed", "id": "33355142", "url": "https://glygen.org/publication/PubMed/33355142" } ] }, { "annotation": "Effects of the major formaldehyde catalyzer ADH5 on phenotypes of fanconi anemia zebrafish model.", "evidence": [ { "database": "RefSeq", "id": "NP_000662", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000662" }, { "database": "PubMed", "id": "37615925", "url": "https://glygen.org/publication/PubMed/37615925" } ] }, { "annotation": "GSNOR deficiency promotes tumor growth via FAK1 S-nitrosylation.", "evidence": [ { "database": "RefSeq", "id": "NP_000662", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000662" }, { "database": "PubMed", "id": "36656716", "url": "https://glygen.org/publication/PubMed/36656716" } ] }, { "annotation": "This gene encodes a member of the alcohol dehydrogenase family. Members of this family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. The encoded protein forms a homodimer. It has virtually no activity for ethanol oxidation, but exhibits high activity for oxidation of long-chain primary alcohols and for oxidation of S-hydroxymethyl-glutathione, a spontaneous adduct between formaldehyde and glutathione. This enzyme is an important component of cellular metabolism for the elimination of formaldehyde, a potent irritant and sensitizing agent that causes lacrymation, rhinitis, pharyngitis, and contact dermatitis. The human genome contains several non-transcribed pseudogenes related to this gene. [provided by RefSeq, Oct 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000662", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000662" } ] }, { "annotation": "[Aldehyde degradation deficiency (ADD) syndrome: discovery of a novel fanconi anemia-like inherited BMF syndrome due to combined ADH5/ALDH2 deficiency].", "evidence": [ { "database": "RefSeq", "id": "NP_000662", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000662" }, { "database": "PubMed", "id": "34219079", "url": "https://glygen.org/publication/PubMed/34219079" } ] } ], "disease": [ { "disease_id": "DOID:0080952", "recommended_name": { "id": "DOID:0080952", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080952", "name": "AMED syndrome", "description": "A syndrome that is characterized by global developmental delay with impaired intellectual development, onset of bone marrow failure and myelodysplastic syndrome in childhood, and poor overall growth with short stature and that has_material_basis_in homozygous or compound heterozygous mutation in the ADH5 gene on chromosome 4q accompanied by a specific homozygous or heterozygous allele in the ALDH2 gene (E504K) on chromosome 12q24. Defects in both of these genes are necessary for the disorder to manifest, consistent with digenic inheritance." }, "synonyms": [ { "id": "DOID:0080952", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080952", "name": "AMEDS", "description": "" }, { "id": "MONDO:0030894", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030894", "name": "AMED syndrome, digenic", "description": "" }, { "id": "MONDO:0030894", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030894", "name": "AMED syndrome, digenic", "description": "" }, { "id": "MONDO:0030894", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030894", "name": "AMEDS", "description": "" }, { "id": "MONDO:0030894", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030894", "name": "AMeD syndrome", "description": "" }, { "id": "MONDO:0030894", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030894", "name": "aplastic anemia-intellectual disability-dwarfism syndrome", "description": "" }, { "id": "MONDO:0030894", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030894", "name": "bone marrow failure syndrome 7, digenic", "description": "" }, { "id": "MIM:619151", "resource": "MIM", "url": "https://www.omim.org/entry/619151", "name": "AMED syndrome, digenic", "description": "AMED syndrome, digenic" } ], "evidence": [ { "id": "619151", "database": "MIM", "url": "https://www.omim.org/entry/619151" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 115, "end_pos": 115, "sequence_org": "R", "sequence_mut": "A", "comment": "Loss of FDH activity and loss of activation by fatty acids.", "evidence": [ { "database": "UniProtKB", "id": "P11766", "url": "https://www.uniprot.org/uniprot/P11766" }, { "database": "PubMed", "id": "8494891", "url": "https://glygen.org/publication/PubMed/8494891" }, { "database": "PubMed", "id": "8460164", "url": "https://glygen.org/publication/PubMed/8460164" } ] }, { "start_pos": 115, "end_pos": 115, "sequence_org": "R", "sequence_mut": "D", "comment": "Loss of FDH activity and loss of activation by fatty acids.", "evidence": [ { "database": "UniProtKB", "id": "P11766", "url": "https://www.uniprot.org/uniprot/P11766" }, { "database": "PubMed", "id": "8494891", "url": "https://glygen.org/publication/PubMed/8494891" }, { "database": "PubMed", "id": "8460164", "url": "https://glygen.org/publication/PubMed/8460164" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "97.21", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000197894", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000197894" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "94.65", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000197894", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000197894" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "96.45", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000197894", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000197894" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "94.88", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000197894", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000197894" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "99.49", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000197894", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000197894" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "98.79", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000197894", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000197894" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "97.2", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000197894", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000197894" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "98.76", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000197894", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000197894" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "96.16", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000197894", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000197894" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "94.69", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000197894", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000197894" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "97.75", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000197894", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000197894" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "97.43", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000197894", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000197894" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "97.88", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000197894", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000197894" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P11766", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11766" } ], "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", 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}, { "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", 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"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": "P11766", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11766" } ], "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", 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"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", 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"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": "P11766", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11766" } ], "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 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"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 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"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": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P11766", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11766" } ], "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. 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11766" } ], "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 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"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": "P11766", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11766" } ], "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": "P11766", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11766" } ], "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": "P11766", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11766" } ], "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": "P11766", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11766" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P11766", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11766" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P11766", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11766" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": 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"url": "http://pfam.xfam.org/family/PF00107", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF08240", "url": "http://pfam.xfam.org/family/PF08240", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P11766", "url": "https://pharos.nih.gov/targets/P11766", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P11766", "url": "http://purl.obolibrary.org/obo/PR_P11766", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-71384", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71384", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000662", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000662", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "10736", "url": "https://www.rhea-db.org/rhea/10736", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "10740", "url": "https://www.rhea-db.org/rhea/10740", "database": "Rhea", "categories": 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"categories": [ "Protein" ] }, { "id": "D6RFE4", "url": "https://www.uniprot.org/uniprot/D6RFE4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D6RFE4-1", "url": "https://www.uniprot.org/uniprot/D6RFE4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YAG8", "url": "https://www.uniprot.org/uniprot/H0YAG8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YAG8-1", "url": "https://www.uniprot.org/uniprot/H0YAG8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P11766", "url": "https://www.uniprot.org/uniprot/P11766", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P11766-1", "url": "https://www.uniprot.org/uniprot/P11766-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MANEVIKCKAAVAWEAGKPLSIEEIEVAPPKAHEVRIKIIATAVCHTDAYTLSGADPEGCFPVILGHEGAGIVESVGEGVTKLKAGDTVIPLYIPQCGECKFCLNPKTNLCQKIRVTQGKGLMPDGTSRFTCKGKTILHYMGTSTFSEYTVVADISVAKIDPLAPLDKVCLLGCGISTGYGAAVNTAKLEPGSVCAVFGLGGVGLAVIMGCKVAGASRIIGVDINKDKFARAKEFGATECINPQDFSKPIQEVLIEMTDGGVDYSFECIGNVKVMRAALEACHKGWGVSVVVGVAASGEEIATRPFQLVTGRTWKGTAFGGWKSVESVPKLVSEYMSKKIKVDEFVTHNLSFDEINKAFELMHSGKSIRTVVKI", "length": 374, "header": "sp|P11766-1|ADHX_HUMAN Isoform 1 of Alcohol dehydrogenase class-3 OS=Homo sapiens OX=9606 GN=ADH5 PE=1 SV=4 CANONICAL=P11766-1" }, "isoforms": [ { "isoform_ac": "D6R9G2-1", "url": "", "sequence": { "sequence": "MANEVIKCKAAVAWEAGKPLSIEEIEVAPPKAHEVRIKIIATAVCHTDAYTLSGADPEGCFPVILGHEGAGIVESVGEGVTKLKAVWRMQILSKS", "length": 95, "header": "tr|D6R9G2-1|D6R9G2_HUMAN Computationally mapped isoform of alcohol dehydrogenase OS=Homo sapiens OX=9606 GN=ADH5 PE=1 SV=1 CANONICAL=P11766-1" }, "locus": { "chromosome": "4", "start_pos": 99088700, "end_pos": 99081392, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000502590.5", "url": "https://www.ensembl.org/id/ENST00000502590.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000422119.1", "url": "https://www.ensembl.org/id/ENSP00000422119.1" } ] } }, { "isoform_ac": "D6RAY0-1", "url": "", "sequence": { "sequence": "MANEVIKCKAAVAWEAGKPLSIEEIEVAPPKAHEVRIKVTLSSHFTSHSVENANFV", "length": 56, "header": "tr|D6RAY0-1|D6RAY0_HUMAN Computationally mapped isoform of alcohol dehydrogenase OS=Homo sapiens OX=9606 GN=ADH5 PE=1 SV=1 CANONICAL=P11766-1" }, "locus": { "chromosome": "4", "start_pos": 99088700, "end_pos": 99081399, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000512659.5", "url": "https://www.ensembl.org/id/ENST00000512659.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000424650.1", "url": "https://www.ensembl.org/id/ENSP00000424650.1" } ] } }, { "isoform_ac": "D6RFE4-1", "url": "", "sequence": { "sequence": "MANEVIKCKAAVAWEAGKPLSIEEIEVAPPKAHEVRIKIIATAVCHTDAYTLSGADPEGCFPVILGHEGAGIVESVGEGVTKLKAGDTVIPLYIPQCGECKFCLNPKTNLCQKIR", "length": 115, "header": "tr|D6RFE4-1|D6RFE4_HUMAN Computationally mapped isoform of alcohol dehydrogenase OS=Homo sapiens OX=9606 GN=ADH5 PE=1 SV=1 CANONICAL=P11766-1" }, "locus": { "chromosome": "4", "start_pos": 99088700, "end_pos": 99079991, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000505652.1", "url": "https://www.ensembl.org/id/ENST00000505652.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000421556.1", "url": "https://www.ensembl.org/id/ENSP00000421556.1" } ] } }, { "isoform_ac": "H0YAG8-1", "url": "", "sequence": { "sequence": "VIKCKAAVAWEAGKPLSIEEIEVAPPKAHEVRIKIIATAVCHTDAYTLSGADPEGCFPVILGHEGAGIVESVGDTVIPLYIPQCGECKFCLNPKTNLCQKIRVTQGKGLMPDGTSRFTCKGKTILHYMGTSTFSEYTVVADISVAKIDPLAPLDKVCLLGCGISTGYGAAVNTAKLEPGSVCAVFGLGGVGLAVIMGCKVAGASRIIGVDINKDKFARAKEFGATECINPQDFSKPIQEVLIEMTDGGVDYSFECIGNVKVM", "length": 262, "header": "tr|H0YAG8-1|H0YAG8_HUMAN Computationally mapped isoform of alcohol dehydrogenase OS=Homo sapiens OX=9606 GN=ADH5 PE=1 SV=1 CANONICAL=P11766-1" }, "locus": { "chromosome": "4", "start_pos": 99085216, "end_pos": 99076292, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000503130.5", "url": "https://www.ensembl.org/id/ENST00000503130.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000427049.1", "url": "https://www.ensembl.org/id/ENSP00000427049.1" } ] } }, { "isoform_ac": "P11766-1", "url": "", "sequence": { "sequence": "MANEVIKCKAAVAWEAGKPLSIEEIEVAPPKAHEVRIKIIATAVCHTDAYTLSGADPEGCFPVILGHEGAGIVESVGEGVTKLKAGDTVIPLYIPQCGECKFCLNPKTNLCQKIRVTQGKGLMPDGTSRFTCKGKTILHYMGTSTFSEYTVVADISVAKIDPLAPLDKVCLLGCGISTGYGAAVNTAKLEPGSVCAVFGLGGVGLAVIMGCKVAGASRIIGVDINKDKFARAKEFGATECINPQDFSKPIQEVLIEMTDGGVDYSFECIGNVKVMRAALEACHKGWGVSVVVGVAASGEEIATRPFQLVTGRTWKGTAFGGWKSVESVPKLVSEYMSKKIKVDEFVTHNLSFDEINKAFELMHSGKSIRTVVKI", "length": 374, "header": "sp|P11766-1|ADHX_HUMAN Isoform 1 of Alcohol dehydrogenase class-3 OS=Homo sapiens OX=9606 GN=ADH5 PE=1 SV=4 CANONICAL=P11766-1" }, "locus": { "chromosome": "4", "start_pos": 99088700, "end_pos": 99072420, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000296412.14", "url": "https://www.ensembl.org/id/ENST00000296412.14" }, { "database": "Ensembl Peptide", "id": "ENSP00000296412.8", "url": "https://www.ensembl.org/id/ENSP00000296412.8" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P11766", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P11766" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "34229054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34229054" } ] } ], "phosphorylation": [ { "start_pos": 127, "end_pos": 127, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P11766", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11766" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr127" }, { "start_pos": 128, "end_pos": 128, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P11766", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11766" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser128" }, { "start_pos": 131, "end_pos": 131, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P11766", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11766" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr131" }, { "start_pos": 247, "end_pos": 247, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P11766", "url": "https://www.uniprot.org/uniprot/P11766" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "P11766", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11766" } ], "site_lbl": "Ser247" }, { "start_pos": 303, "end_pos": 303, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P11766", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11766" }, { "database": "PubMed", "id": "20058876", "url": "https://glygen.org/publication/PubMed/20058876" } ], "site_lbl": "Thr303" }, { "start_pos": 324, "end_pos": 324, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P11766", "url": "https://www.uniprot.org/uniprot/P11766" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P11766", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11766" } ], "site_lbl": "Ser324" }, { "start_pos": 351, "end_pos": 351, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P11766", "url": "https://www.uniprot.org/uniprot/P11766" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P11766", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11766" } ], "site_lbl": "Ser351" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Interaction between the functional polymorphisms of the alcohol-metabolism genes in protection against alcoholism.", "journal": "American journal of human genetics", "date": "1999", "authors": "Chen CC, Lu RB, Chen YC, Wang MF, Chang YC, Li TK, Yin SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-71384", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71384" } ], "reference": [ { "type": "PubMed", "id": "10441588", "url": "https://glygen.org/publication/PubMed/10441588" } ] }, { "title": "Human liver mitochondrial aldehyde dehydrogenase: three-dimensional structure and the restoration of solubility and activity of chimeric forms.", "journal": "Protein science : a publication of the Protein Society", "date": "1999", "authors": "Ni L, Zhou J, Hurley TD, Weiner H", "evidence": [ { "database": "Reactome", "id": "R-HSA-71384", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71384" } ], "reference": [ { "type": "PubMed", "id": "10631996", "url": "https://glygen.org/publication/PubMed/10631996" } ] }, { "title": "Regulation of the mammalian alcohol dehydrogenase genes.", "journal": "Progress in nucleic acid research and molecular biology", "date": "2000", "authors": "Edenberg HJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-71384", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71384" } ], "reference": [ { "type": "PubMed", "id": "10697413", "url": "https://glygen.org/publication/PubMed/10697413" } ] }, { "title": "Molecular characterization of human acetyl-CoA synthetase, an enzyme regulated by sterol regulatory element-binding proteins.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Luong A, Hannah VC, Brown MS, Goldstein JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-71384", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71384" } ], "reference": [ { "type": "PubMed", "id": "10843999", "url": "https://glygen.org/publication/PubMed/10843999" } ] }, { "title": "Cloning and characterization of the ADH5 gene encoding human alcohol dehydrogenase 5, formaldehyde dehydrogenase.", "journal": "Gene", "date": "1992", "authors": "Hur MW, Edenberg HJ", "evidence": [ { "database": "UniProtKB", "id": "P11766", "url": "https://www.uniprot.org/uniprot/P11766" } ], "reference": [ { "type": "PubMed", "id": "1446828", "url": "https://glygen.org/publication/PubMed/1446828" } ] }, { "title": "Omega-oxidation of 20-hydroxyeicosatetraenoic acid (20-HETE) in cerebral microvascular smooth muscle and endothelium by alcohol dehydrogenase 4.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Collins XH, Harmon SD, Kaduce TL, Berst KB, Fang X, Moore SA, Raju TV, Falck JR, Weintraub NL, Duester G, Plapp BV, Spector AA", "evidence": [ { "database": "UniProtKB", "id": "P11766", "url": "https://www.uniprot.org/uniprot/P11766" } ], "reference": [ { "type": "PubMed", "id": "16081420", "url": "https://glygen.org/publication/PubMed/16081420" } ] }, { "title": "Reversible lysine acetylation controls the activity of the mitochondrial enzyme acetyl-CoA synthetase 2.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2006", "authors": "Schwer B, Bunkenborg J, Verdin RO, Andersen JS, Verdin E", "evidence": [ { "database": "Reactome", "id": "R-HSA-71384", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71384" } ], "reference": [ { "type": "PubMed", "id": "16788062", "url": "https://glygen.org/publication/PubMed/16788062" } ] }, { "title": "Enzymatic properties of the protein encoded by newly cloned human alcohol dehydrogenase ADH6 gene.", "journal": "Biochemical and biophysical research communications", "date": "1991", "authors": "Chen CS, Yoshida A", "evidence": [ { "database": "Reactome", "id": "R-HSA-71384", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71384" } ], "reference": [ { "type": "PubMed", "id": "1755855", "url": "https://glygen.org/publication/PubMed/1755855" } ] }, { "title": "Two aldehyde dehydrogenases from human liver. 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"https://www.uniprot.org/uniprot/P11766" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 10, "go_terms": [ { "name": "fatty acid binding", "id": "GO:0005504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005504", "evidence": [ { "database": "UniProtKB", "id": "P11766", "url": "https://www.uniprot.org/uniprot/P11766" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P11766", "url": "https://www.uniprot.org/uniprot/P11766" } ], "pmid": "" }, { "name": "electron transfer activity", "id": "GO:0009055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009055", "evidence": [ { "database": "UniProtKB", "id": "P11766", "url": "https://www.uniprot.org/uniprot/P11766" } ], "pmid": "" }, { "name": "formaldehyde dehydrogenase activity", "id": "GO:0018467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018467", "evidence": [ { "database": "UniProtKB", "id": 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{ "database": "UniProtKB", "id": "P11766", "url": "https://www.uniprot.org/uniprot/P11766" } ], "pmid": "" }, { "name": "S-(hydroxymethyl)glutathione dehydrogenase NAD activity", "id": "GO:0106322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106322", "evidence": [ { "database": "UniProtKB", "id": "P11766", "url": "https://www.uniprot.org/uniprot/P11766" } ], "pmid": "" }, { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "P11766", "url": "https://www.uniprot.org/uniprot/P11766" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P11766", "url": "https://www.uniprot.org/uniprot/P11766" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P11766", "url": "https://www.uniprot.org/uniprot/P11766" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P11766", "url": "https://www.uniprot.org/uniprot/P11766" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 349, "end_pos": 351, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "10736", "name": "", "equation": "a primary alcohol + NAD(+) = an aldehyde + H(+) + NADH", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P06757-1", "P12711-1", "P41682-1", "Q5XI95-1", "P00326-1", "P11766-1", "P40394-1", "P07327-1", "P28332-1", "P28474-1", "Q64437-1", "P00329-1", "P10127-1", "P32771-1", "P00330-1", "P00331-1", "P07246-1", "P38113-1", "Q54TC2-1", "P46415-1", "Q9I7R3-1", "P00334-1" ], "evidence": [ { "id": "10736", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/10736" } ] }, { "id": "10740", "name": "", "equation": "a secondary alcohol + NAD(+) = a ketone + H(+) + NADH", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P06757-1", "P12711-1", "Q5XI95-1", "P11766-1", "P07327-1", "P28332-1", "P28474-1", "P00329-1", "P32771-1", "P00330-1", "P00331-1", "P07246-1", "P38113-1", "Q54TC2-1", "P46415-1", "Q9I7R3-1", "P00334-1" ], "evidence": [ { "id": "10740", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/10740" } ] }, { "id": "19981", "name": "", "equation": "NADP(+) + S-(hydroxymethyl)glutathione = H(+) + NADPH + S-formylglutathione", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P12711-1", "P11766-1", "P28474-1", "P32771-1", "Q54TC2-1", "P46415-1" ], "evidence": [ { "id": "19981", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/19981" } ] }, { "id": "19985", "name": "", "equation": "NAD(+) + S-(hydroxymethyl)glutathione = H(+) + NADH + S-formylglutathione", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P12711-1", "P11766-1", "P28474-1", "P32771-1", "Q54TC2-1", "P46415-1" ], "evidence": [ { "id": "19985", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/19985" } ] }, { "id": "39799", "name": "", "equation": "20-hydroxy-(5Z,8Z,11Z,14Z)-eicosatetraenoate + NAD(+) = 20-oxo-(5Z,8Z,11Z,14Z)-eicosatetraenoate + H(+) + NADH", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P12711-1", "Q64563-1", "P08319-1", "P11766-1", "P28474-1", "Q9QYY9-1" ], "evidence": [ { "id": "39799", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/39799" } ] }, { "id": "39803", "name": "", "equation": "20-oxo-(5Z,8Z,11Z,14Z)-eicosatetraenoate + H2O + NAD(+) = (5Z,8Z,11Z,14Z)-eicosatetraenedioate + 2 H(+) + NADH", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q64563-1", "P12711-1", "P08319-1", "P11766-1", "P28474-1", "Q9QYY9-1" ], "evidence": [ { "id": "39803", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/39803" } ] }, { "id": "R-HSA-5692237", "name": "ADH5 oxidises S-HMGSH to S-FGSH", "equation": "", "summary": "Alcohol dehydrogenase class-3 (ADH5) is a cytosolic dimeric enzyme that binds 2 Zn2+ per subunit. It is very ineffective in oxidising ethanol, but it readily catalyses the oxidation of S-(hydroxymethyl) glutathione (S-HMGSH) to S-formylglutathione (S-FGSH) (Kaiser et al. 1988, Julia et al. 1988) as well as the oxidation of long-chain primary alcohols (not shown here).", "cellular_location": "cytosol", "input_participant_list": [ "R-ALL-5692221" ], "output_participant_list": [ "R-ALL-5692249" ], "enzyme_list": [ "P11766-1" ], "evidence": [ { "id": "R-HSA-5692237", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5692237" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-5692221", "participant_name": "S-HMGSH [cytosol]", "crossref": [ { "id": "25244017", "database": "PubChem Compound", "url": "" }, { "id": "000003870218", "database": "ZINC", "url": "" }, { "id": "C14180", "database": "COMPOUND", "url": "" }, { "id": "58758", "database": "ChEBI", "url": "" }, { "id": "HMDB0004662", "database": "HMDB Metabolite", "url": "" }, { "id": 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"P00330", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00330" } ] }, { "ec_number": "1.1.1.78", "activity": "(R)-lactaldehyde + NAD(+) = H(+) + methylglyoxal + NADH.", "evidence": [ { "id": "P00330", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00330" } ] }, { "ec_number": "1.1.1.54", "activity": "", "evidence": [ { "id": "P00330", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00330" } ] }, { "ec_number": "1.1.1.1", "activity": "", "evidence": [ { "id": "P00330", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00330" } ] }, { "ec_number": "1.1.1.78", "activity": "", "evidence": [ { "id": "P00330", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00330" } ] } ] }, { "uniprot_ac": "P00331", "gene_name": "ADH2", "activity": [ { "ec_number": "1.1.1.1", "activity": "ethanol + NAD(+) = acetaldehyde + H(+) + NADH.", "evidence": [ { "id": "P00331", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00331" } ] }, { "ec_number": "1.1.1.1", "activity": "", "evidence": [ { "id": "P00331", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00331" } ] } ] }, { "uniprot_ac": "P00334", "gene_name": "Adh", "activity": [ { "ec_number": "1.1.1.1", "activity": "ethanol + NAD(+) = acetaldehyde + H(+) + NADH.", "evidence": [ { "id": "P00334", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00334" } ] }, { "ec_number": "1.1.1.1", "activity": "", "evidence": [ { "id": "P00334", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00334" } ] } ] }, { "uniprot_ac": "P06757", "gene_name": "Adh1", "activity": [ { "ec_number": "1.1.1.1", "activity": "ethanol + NAD(+) = acetaldehyde + H(+) + NADH.", "evidence": [ { "id": "P06757", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06757" } ] }, { "ec_number": "1.1.1.1", "activity": "", "evidence": [ { "id": "P06757", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06757" } ] } ] }, { "uniprot_ac": "P07246", "gene_name": "ADH3", "activity": [ { "ec_number": "1.1.1.1", "activity": "ethanol + NAD(+) = acetaldehyde + H(+) + NADH.", "evidence": [ { "id": "P07246", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07246" } ] }, { "ec_number": "1.1.1.1", "activity": "", "evidence": [ { "id": "P07246", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07246" } ] } ] }, { "uniprot_ac": "P07327", "gene_name": "ADH1A", "activity": [ { "ec_number": "1.1.1.1", "activity": "ethanol + NAD(+) = acetaldehyde + H(+) + NADH.", "evidence": [ { "id": "P07327", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07327" } ] }, { "ec_number": "1.1.1.1", "activity": "", "evidence": [ { "id": "P07327", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07327" } ] } ] }, { "uniprot_ac": "P08319", "gene_name": "ADH4", "activity": [ { "ec_number": "1.1.1.105", "activity": "all-trans-retinol + NAD(+) = all-trans-retinal + H(+) + NADH.", "evidence": [ { "id": "P08319", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08319" } ] }, { "ec_number": "1.1.1.105", "activity": "", "evidence": [ { "id": "P08319", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08319" } ] } ] }, { "uniprot_ac": "P10127", "gene_name": "ADH4", "activity": [ { "ec_number": "1.1.1.1", "activity": "ethanol + NAD(+) = acetaldehyde + H(+) + NADH.", "evidence": [ { "id": "P10127", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10127" } ] }, { "ec_number": "1.1.1.1", "activity": "", "evidence": [ { "id": "P10127", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10127" } ] } ] }, { "uniprot_ac": "P11766", "gene_name": "ADH5", "activity": [ { "ec_number": "1.1.1.-", "activity": "", "evidence": [ { "id": "P11766", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11766" } ] }, { "ec_number": "1.1.1.1", "activity": "ethanol + NAD(+) = acetaldehyde + H(+) + NADH.", "evidence": [ { "id": "P11766", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11766" } ] }, { "ec_number": "1.1.1.284", "activity": "NADP(+) + S-(hydroxymethyl)glutathione = H(+) + NADPH + S-formylglutathione.", "evidence": [ { "id": "P11766", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11766" } ] }, { "ec_number": "1.1.1.1", "activity": "", "evidence": [ { "id": "P11766", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11766" } ] } ] }, { "uniprot_ac": "P12711", "gene_name": "Adh5", "activity": [ { "ec_number": "1.1.1.-", "activity": "", "evidence": [ { "id": "P12711", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12711" } ] }, { "ec_number": "1.1.1.1", "activity": "ethanol + NAD(+) = acetaldehyde + H(+) + NADH.", "evidence": [ { "id": "P12711", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12711" } ] }, { "ec_number": 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