{ "uniprot_canonical_ac": "P14061-1", "uniprot_ac": "P14061", "uniprot_id": "DHB1_HUMAN", "mass": { "chemical_mass": 34950.0, "monoisotopic_mass": 34950.0 }, "refseq": { "ac": "NP_000404", "name": "17-beta-hydroxysteroid dehydrogenase type 1 isoform 1", "summary": "This gene encodes a member of the 17beta-hydroxysteroid dehydrogenase family of short-chain dehydrogenases/reductases. It has a dual function in estrogen activation and androgen inactivation and plays a major role in establishing the estrogen E2 concentration gradient between serum and peripheral tissues. The encoded protein catalyzes the last step in estrogen activation, using NADPH to convert estrogens E1 and E2 and androgens like 4-androstenedione, to testosterone. It has an N-terminal short-chain dehydrogenase domain with a cofactor binding site, and a narrow, hydrophobic C-terminal domain with a steroid substrate binding site. This gene is expressed primarily in the placenta and ovarian granulosa cells, and to a lesser extent, in the endometrium, adipose tissue, and prostate. Polymorphisms in this gene have been linked to breast and prostate cancer. A pseudogene of this gene has been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000404" }, "gene_names": [ { "name": "HSD17B1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P14061", "id": "P14061" }, { "name": "17-beta-HSD; 20-alpha-HSD; E2DH; EDH17B2; EDHB17; HSD17; SDR28C1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000404", "id": "NP_000404" }, { "name": "E17KSR", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P14061", "id": "P14061" }, { "name": "EDH17B1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P14061", "id": "P14061" }, { "name": "EDH17B2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P14061", "id": "P14061" }, { "name": "EDHB17", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P14061", "id": "P14061" }, { "name": "HSD17B1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000404", "id": "NP_000404" }, { "name": "SDR28C1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P14061", "id": "P14061" } ], "protein_names": [ { "name": "17-beta-hydroxysteroid dehydrogenase type 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P14061" }, { "name": "1.1.1.51", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P14061" }, { "name": "1.1.1.62", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P14061" }, { "name": "17-beta-HSD 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P14061" }, { "name": "17-beta-hydroxysteroid dehydrogenase type 1 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000404", "id": "NP_000404" }, { "name": "20 alpha-hydroxysteroid dehydrogenase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P14061" }, { "name": "20-alpha-HSD", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P14061" }, { "name": "E2DH", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P14061" }, { "name": "Estradiol 17-beta-dehydrogenase 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P14061" }, { "name": "Placental 17-beta-hydroxysteroid dehydrogenase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P14061" }, { "name": "Short chain dehydrogenase/reductase family 28C member 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P14061" }, { "name": "short chain dehydrogenase/reductase family 28CE, member 1; estradiol 17-beta-dehydrogenase 1; short chain dehydrogenase/reductase family 28C member 1; 20 alpha-hydroxysteroid dehydrogenase; 17-beta-hydroxysteroid dehydrogenase type 1; placental 17-beta-hydroxysteroid dehydrogenase; 17-beta-HSD 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000404", "id": "NP_000404" } ], "function": [ { "annotation": "Favors the reduction of estrogens and androgens. Converts estrone (E1) to a more potent estrogen, 17beta-estradiol (E2) (PubMed:8994190). Also has 20-alpha-HSD activity. Uses preferentially NADH.", "evidence": [ { "database": "UniProtKB", "id": "P14061", "url": "https://www.uniprot.org/uniprot/P14061#function" }, { "database": "PubMed", "id": "8994190", "url": "https://glygen.org/publication/PubMed/8994190" } ] }, { "annotation": "Favors the reduction of estrogens and androgens. Uses preferentially NADH.", "evidence": [ { "database": "UniProtKB", "id": "A0A0A0MQS7", "url": "https://www.uniprot.org/uniprot/A0A0A0MQS7#function" }, { "database": "UniProtKB", "id": "PIRNR000095", "url": "https://www.uniprot.org/uniprot/PIRNR000095#function" } ] }, { "annotation": "New insights into the substrate inhibition of human 17beta-hydroxysteroid dehydrogenase type 1.", "evidence": [ { "database": "RefSeq", "id": "NP_000404", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000404" }, { "database": "PubMed", "id": "36634828", "url": "https://glygen.org/publication/PubMed/36634828" } ] }, { "annotation": "Overexpression of Human Estrogen Biosynthetic Enzyme Hydroxysteroid (17beta) Dehydrogenase Type 1 Induces Adenomyosis-like Phenotype in Transgenic Mice. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000404", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000404" }, { "database": "PubMed", "id": "35563206", "url": "https://glygen.org/publication/PubMed/35563206" } ] }, { "annotation": "Steroid Metabolism in Children and Adolescents With Obesity and Insulin Resistance: Altered SRD5A and 20alpha/20betaHSD Activity. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000404", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000404" }, { "database": "PubMed", "id": "34764940", "url": "https://glygen.org/publication/PubMed/34764940" } ] }, { "annotation": "The structure of human 17beta-HSD1 and biological function have been studied extensively in the last two decades. In humans, the enzyme is expressed in placenta, ovary, endometrium and breast; high activity of estrogen activation provides the basis of 17beta-HSD1's implication in estrogen-dependent diseases, such as breast cancer, endometriosis and non-small cell lung carcinomas. [Review] Review article", "evidence": [ { "database": "RefSeq", "id": "NP_000404", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000404" }, { "database": "PubMed", "id": "27102893", "url": "https://glygen.org/publication/PubMed/27102893" } ] }, { "annotation": "This gene encodes a member of the 17beta-hydroxysteroid dehydrogenase family of short-chain dehydrogenases/reductases. It has a dual function in estrogen activation and androgen inactivation and plays a major role in establishing the estrogen E2 concentration gradient between serum and peripheral tissues. The encoded protein catalyzes the last step in estrogen activation, using NADPH to convert estrogens E1 and E2 and androgens like 4-androstenedione, to testosterone. It has an N-terminal short-chain dehydrogenase domain with a cofactor binding site, and a narrow, hydrophobic C-terminal domain with a steroid substrate binding site. This gene is expressed primarily in the placenta and ovarian granulosa cells, and to a lesser extent, in the endometrium, adipose tissue, and prostate. Polymorphisms in this gene have been linked to breast and prostate cancer. A pseudogene of this gene has been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_000404", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000404" } ] } ], "disease": [], "snv": [], "mutagenesis": [ { "start_pos": 112, "end_pos": 114, "sequence_org": "LDV", "sequence_mut": "F", "comment": "Loss of 17-beta-hydroxysteroid dehydrogenase activity.", "evidence": [ { "database": "UniProtKB", "id": "P14061", "url": "https://www.uniprot.org/uniprot/P14061" }, { "database": "PubMed", "id": "8994190", "url": "https://glygen.org/publication/PubMed/8994190" } ] }, { "start_pos": 135, "end_pos": 135, "sequence_org": "S", "sequence_mut": "A", "comment": "Abolishes phosphorylation. No effect on 17-beta-hydroxysteroid dehydrogenase activity.", "evidence": [ { "database": "UniProtKB", "id": "P14061", "url": "https://www.uniprot.org/uniprot/P14061" }, { "database": "PubMed", "id": "8994190", "url": "https://glygen.org/publication/PubMed/8994190" } ] }, { "start_pos": 143, "end_pos": 143, "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of 17-beta-hydroxysteroid dehydrogenase activity.", "evidence": [ { "database": "UniProtKB", "id": "P14061", "url": "https://www.uniprot.org/uniprot/P14061" }, { "database": "PubMed", "id": "8994190", "url": "https://glygen.org/publication/PubMed/8994190" } ] }, { "start_pos": 150, "end_pos": 150, "sequence_org": "L", "sequence_mut": "V", "comment": "Alters substrate specificity.", "evidence": [ { "database": "UniProtKB", "id": "P14061", "url": "https://www.uniprot.org/uniprot/P14061" }, { "database": "PubMed", "id": "10625652", "url": "https://glygen.org/publication/PubMed/10625652" } ] }, { "start_pos": 156, "end_pos": 156, "sequence_org": "Y", "sequence_mut": "A", "comment": "Loss of 17-beta-hydroxysteroid dehydrogenase activity.", "evidence": [ { "database": "UniProtKB", "id": "P14061", "url": "https://www.uniprot.org/uniprot/P14061" }, { "database": "PubMed", "id": "8994190", "url": "https://glygen.org/publication/PubMed/8994190" } ] }, { "start_pos": 160, "end_pos": 160, "sequence_org": "K", "sequence_mut": "A", "comment": "Loss of 17-beta-hydroxysteroid dehydrogenase activity.", "evidence": [ { "database": "UniProtKB", "id": "P14061", "url": "https://www.uniprot.org/uniprot/P14061" }, { "database": "PubMed", "id": "8994190", "url": "https://glygen.org/publication/PubMed/8994190" } ] }, { "start_pos": 171, "end_pos": 171, "sequence_org": "A", "sequence_mut": "AEF", "comment": "Loss of 17-beta-hydroxysteroid dehydrogenase activity.", "evidence": [ { "database": "UniProtKB", "id": "P14061", "url": "https://www.uniprot.org/uniprot/P14061" }, { "database": "PubMed", "id": "8994190", "url": "https://glygen.org/publication/PubMed/8994190" } ] }, { "start_pos": 222, "end_pos": 222, "sequence_org": "H", "sequence_mut": "A", "comment": "No effect on conversion of estrone to 17beta-estradiol.", "evidence": [ { "database": "UniProtKB", "id": "P14061", "url": "https://www.uniprot.org/uniprot/P14061" }, { "database": "PubMed", "id": "8994190", "url": "https://glygen.org/publication/PubMed/8994190" } ] }, { "start_pos": 283, "end_pos": 283, "sequence_org": "E", "sequence_mut": "A", "comment": "No effect on conversion of estrone to 17beta-estradiol.", "evidence": [ { "database": "UniProtKB", "id": "P14061", "url": "https://www.uniprot.org/uniprot/P14061" }, { "database": "PubMed", "id": "8994190", "url": "https://glygen.org/publication/PubMed/8994190" } ] }, { "start_pos": 283, "end_pos": 283, "sequence_org": "E", "sequence_mut": "Q", "comment": "No effect on conversion of estrone to 17beta-estradiol.", "evidence": [ { "database": "UniProtKB", "id": "P14061", "url": "https://www.uniprot.org/uniprot/P14061" }, { "database": "PubMed", "id": "8994190", "url": "https://glygen.org/publication/PubMed/8994190" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "58.05", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000108786", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000108786" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "57.72", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000108786", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000108786" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "52.15", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000108786", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000108786" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000108786", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000108786" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "69.79", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000108786", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000108786" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "66.56", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000108786", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000108786" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000108786", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000108786" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "62.9", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000108786", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000108786" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "68.65", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000108786", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000108786" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000108786", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000108786" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "56.8", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000108786", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000108786" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "70.03", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000108786", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000108786" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "71.76", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000108786", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000108786" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P14061", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P14061" } ], "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", 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"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 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"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", 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"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 - 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"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", 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"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", 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"name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P14061", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P14061" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P14061", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P14061" } ], "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": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P14061", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P14061" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P14061", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P14061" } ], "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": "P14061", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P14061" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P14061", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P14061" } ], "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": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P14061", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P14061" } ], "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": "" }, 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"https://www.uniprot.org/uniprot/P14061-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MARTVVLITGCSSGIGLHLAVRLASDPSQSFKVYATLRDLKTQGRLWEAARALACPPGSLETLQLDVRDSKSVAAARERVTEGRVDVLVCNAGLGLLGPLEALGEDAVASVLDVNVVGTVRMLQAFLPDMKRRGSGRVLVTGSVGGLMGLPFNDVYCASKFALEGLCESLAVLLLPFGVHLSLIECGPVHTAFMEKVLGSPEEVLDRTDIHTFHRFYQYLAHSKQVFREAAQNPEEVAEVFLTALRAPKPTLRYFTTERFLPLLRMRLDDPSGSNYVTAMHREVFGDVPAKAEAGAEAGGGAGPGAEDEAGRGAVGDPELGDPPAAPQ", "length": 328, "header": "sp|P14061-1|DHB1_HUMAN Isoform 1 of 17-beta-hydroxysteroid dehydrogenase type 1 OS=Homo sapiens OX=9606 GN=HSD17B1 PE=1 SV=3 CANONICAL=P14061-1" }, "isoforms": [ { "isoform_ac": "A0A0A0MQS7-1", "url": "", "sequence": { "sequence": "MARTVVLITGCSSGIGLHLAVRLASDPSQSFKVYATLRDLKTQGRLWEAARALACPPGSLETLQLDVRDSKSVAAARERVTEGRVDVLVCNAGLGLLGPLEALGEDAVASVLDVNVVGTVRMLQAFLPDMKRRGSGRVLVTGSVGGLMGLPFNDVYCASKFALEGLCESLAVLLLPFGVHSLSLIECGPVHTAFMEKVLGSPEEVLDRTDIHTFHRFYQYLAHSKQVFREAAQNPEEVAEVFLTALRAPKPTLRYFTTERFLPLLRMRLDDPSGSNYVTAMHREVFGDVPAKAEAGAEAGGGAGPGAEDEAGRGAVGDPELGDPPAAPQ", "length": 329, "header": "tr|A0A0A0MQS7-1|A0A0A0MQS7_HUMAN Computationally mapped isoform of Estradiol 17-beta-dehydrogenase OS=Homo sapiens OX=9606 GN=HSD17B1 PE=1 SV=1 CANONICAL=P14061-1" }, "locus": { "chromosome": "17", "start_pos": 42554935, "end_pos": 42552934, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000225929.5", "url": "https://www.ensembl.org/id/ENST00000225929.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000225929.5", "url": "https://www.ensembl.org/id/ENSP00000225929.5" } ] } }, { "isoform_ac": "B4DU11-1", "url": "", "sequence": { "sequence": "MARTVVLITGCSSGIGLHLAVRLASDPSQSFKVYATLRDLKTQGRLWEAARALACPPGSLETLQLDVRDSKSVAAARERVTEGRVDVLVCNAGLGLLGPLEALGEDAVASVLDVNVVGTVRMLQAFLPDMKRRGSGRVLVTGSVGGLMA", "length": 149, "header": "tr|B4DU11-1|B4DU11_HUMAN Computationally mapped isoform of cDNA FLJ50217, highly similar to Estradiol 17-beta-dehydrogenase 1 OS=Homo sapiens OX=9606 GN=HSD17B1 PE=1 SV=1 CANONICAL=P14061-1" }, "locus": { "chromosome": "17", "start_pos": 42554406, "end_pos": 42552934, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000590299.5", "url": "https://www.ensembl.org/id/ENST00000590299.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000465128.1", "url": "https://www.ensembl.org/id/ENSP00000465128.1" } ] } }, { "isoform_ac": "P14061-1", "url": "", "sequence": { "sequence": "MARTVVLITGCSSGIGLHLAVRLASDPSQSFKVYATLRDLKTQGRLWEAARALACPPGSLETLQLDVRDSKSVAAARERVTEGRVDVLVCNAGLGLLGPLEALGEDAVASVLDVNVVGTVRMLQAFLPDMKRRGSGRVLVTGSVGGLMGLPFNDVYCASKFALEGLCESLAVLLLPFGVHLSLIECGPVHTAFMEKVLGSPEEVLDRTDIHTFHRFYQYLAHSKQVFREAAQNPEEVAEVFLTALRAPKPTLRYFTTERFLPLLRMRLDDPSGSNYVTAMHREVFGDVPAKAEAGAEAGGGAGPGAEDEAGRGAVGDPELGDPPAAPQ", "length": 328, "header": "sp|P14061-1|DHB1_HUMAN Isoform 1 of 17-beta-hydroxysteroid dehydrogenase type 1 OS=Homo sapiens OX=9606 GN=HSD17B1 PE=1 SV=3 CANONICAL=P14061-1" }, "locus": { "chromosome": "17", "start_pos": 42554935, "end_pos": 42552934, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000585807.6", "url": "https://www.ensembl.org/id/ENST00000585807.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000466799.1", "url": "https://www.ensembl.org/id/ENSP00000466799.1" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 135, "end_pos": 135, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by PKA", "evidence": [ { "database": "UniProtKB", "id": "P14061", "url": "https://www.uniprot.org/uniprot/P14061" }, { "database": "iPTMnet", "id": "P14061", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P14061" }, { "database": "PubMed", "id": "8994190", "url": "https://glygen.org/publication/PubMed/8994190" } ], "site_lbl": "Ser135" } ], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific ATP-binding cassette transporter responsible for Stargardt disease.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Sun H, Molday RS, Nathans J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "10075733", "url": "https://glygen.org/publication/PubMed/10075733" } ] }, { "title": "11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus.", "journal": "Molecular vision", "date": "1999", "authors": "Gonzalez-Fernandez F, Kurz D, Bao Y, Newman S, Conway BP, Young JE, Han DP, Khani SC", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "10617778", "url": "https://glygen.org/publication/PubMed/10617778" } ] }, { "title": "Dehydroepiandrosterone and dihydrotestosterone recognition by human estrogenic 17beta-hydroxysteroid dehydrogenase. C-18/c-19 steroid discrimination and enzyme-induced strain.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Han Q, Campbell RL, Gangloff A, Huang YW, Lin SX", "evidence": [ { "database": "UniProtKB", "id": "P14061", "url": "https://www.uniprot.org/uniprot/P14061" } ], "reference": [ { "type": "PubMed", "id": "10625652", "url": "https://glygen.org/publication/PubMed/10625652" } ] }, { "title": "Identification and characterization of all-trans-retinol dehydrogenase from photoreceptor outer segments, the visual cycle enzyme that reduces all-trans-retinal to all-trans-retinol.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Rattner A, Smallwood PM, Nathans J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "10753906", "url": "https://glygen.org/publication/PubMed/10753906" } ] }, { "title": "The C-terminal nucleotide binding domain of the human retinal ABCR protein is an adenosine triphosphatase.", "journal": "Biochemistry", "date": "2000", "authors": "Biswas EE, Biswas SB", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "11123914", "url": "https://glygen.org/publication/PubMed/11123914" } ] }, { "title": "Identification, retinoid binding, and x-ray analysis of a human retinol-binding protein.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2001", "authors": "Folli C, Calderone V, Ottonello S, Bolchi A, Zanotti G, Stoppini M, Berni R", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "11274389", "url": "https://glygen.org/publication/PubMed/11274389" } ] }, { "title": "Approval summary: letrozole in the treatment of postmenopausal women with advanced breast cancer.", "journal": "Clinical cancer research : an official journal of the American Association for Cancer Research", "date": "2002", "authors": "Cohen MH, Johnson JR, Li N, Chen G, Pazdur R", "evidence": [ { "database": "Reactome", "id": "R-HSA-193144", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193144" } ], "reference": [ { "type": "PubMed", "id": "11895893", "url": "https://glygen.org/publication/PubMed/11895893" } ] }, { "title": "Evidence that the human gene for prostate short-chain dehydrogenase/reductase (PSDR1) encodes a novel retinal reductase (RalR1).", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Kedishvili NY, Chumakova OV, Chetyrkin SV, Belyaeva OV, Lapshina EA, Lin DW, Matsumura M, Nelson PS", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "12036956", "url": "https://glygen.org/publication/PubMed/12036956" } ] }, { "title": "Rhodopsin with 11-cis-locked chromophore is capable of forming an active state photoproduct.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Fan G, Siebert F, Sheves M, Vogel R", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "12177057", "url": "https://glygen.org/publication/PubMed/12177057" } ] }, { "title": "A concerted, rational design of type 1 17beta-hydroxysteroid dehydrogenase inhibitors: estradiol-adenosine hybrids with high affinity.", "journal": "FASEB J.", "date": "2002", "authors": "Qiu Wei, Campbell Robert L, Gangloff Anne, Dupuis Philippe, Boivin Roch P, Tremblay Martin R, Poirier Donald, Lin Sheng-Xiang", "evidence": [ { "database": "UniProtKB", "id": "P14061", "url": "https://www.uniprot.org/uniprot/P14061" } ], "reference": [ { "type": "PubMed", "id": "12223444", "url": "https://glygen.org/publication/PubMed/12223444" } ] }, { "title": "An overview of the pharmacology and pharmacokinetics of the newer generation aromatase inhibitors anastrozole, letrozole, and exemestane.", "journal": "Cancer", "date": "2002", "authors": "Buzdar AU, Robertson JF, Eiermann W, Nabholtz JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-193144", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193144" } ], "reference": [ { "type": "PubMed", "id": "12404296", "url": "https://glygen.org/publication/PubMed/12404296" } ] }, { "title": "Cloning and characterization of a novel all-trans retinol short-chain dehydrogenase/reductase from the RPE.", "journal": "Investigative ophthalmology & visual science", "date": "2002", "authors": "Wu BX, Chen Y, Chen Y, Fan J, Rohrer B, Crouch RK, Ma JX", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": 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Localization of multiple Alu sequences and putative cis-acting elements.", "journal": "Eur. J. Biochem.", "date": "1992", "authors": "Peltoketo H, Isomaa V, Vihko R", "evidence": [ { "database": "UniProtKB", "id": "P14061", "url": "https://www.uniprot.org/uniprot/P14061" } ], "reference": [ { "type": "PubMed", "id": "1327779", "url": "https://glygen.org/publication/PubMed/1327779" } ] }, { "title": "Cofactor hydrogen bonding onto the protein main chain is conserved in the short chain dehydrogenase/reductase family and contributes to nicotinamide orientation.", "journal": "J. Biol. 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Complete amino acid sequence and topography in a membrane].", "journal": "Bioorganicheskaia khimiia", "date": "1983", "authors": "Ovchinnikov IuA, Abdulaev NG, Feigina MIu, Artamonov ID, Bogachuk AS", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "6679757", "url": "https://glygen.org/publication/PubMed/6679757" } ] }, { "title": "Inactivation of aromatase in vitro by 4-hydroxy-4-androstene-3,17-dione and 4-acetoxy-4-androstene-3,17-dione and sustained effects in vivo.", "journal": "Steroids", "date": "1981", "authors": "Brodie AM, Garrett WM, Hendrickson JR, Tsai-Morris CH, Marcotte PA, Robinson CH", "evidence": [ { "database": "Reactome", "id": "R-HSA-193144", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193144" } ], "reference": [ { "type": "PubMed", "id": "7336466", "url": "https://glygen.org/publication/PubMed/7336466" } ] }, { "title": "Structure of human estrogenic 17 beta-hydroxysteroid dehydrogenase at 2.20-A resolution.", "journal": "Structure", "date": "1995", "authors": "Ghosh D, Pletnev V Z, Zhu D W, Wawrzak Z, Duax W L, Pangborn W, Labrie F, Lin S X", "evidence": [ { "database": "UniProtKB", "id": "P14061", "url": "https://www.uniprot.org/uniprot/P14061" } ], "reference": [ { "type": "PubMed", "id": "7663947", "url": "https://glygen.org/publication/PubMed/7663947" } ] }, { "title": "Molecular cloning and structural analysis of the human gene encoding cellular retinaldehyde-binding protein.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Intres R, Goldflam S, Cook JR, Crabb JW", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "7929238", "url": "https://glygen.org/publication/PubMed/7929238" } ] }, { "title": "Aromatase cytochrome P450, the enzyme responsible for estrogen biosynthesis.", "journal": "Endocrine reviews", "date": "1994", "authors": "Simpson ER, Mahendroo MS, Means GD, Kilgore MW, Hinshelwood MM, Graham-Lorence S, Amarneh B, Ito Y, Fisher CR, Michael MD, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-193144", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193144" } ], "reference": [ { "type": "PubMed", "id": "8076586", "url": "https://glygen.org/publication/PubMed/8076586" } ] }, { "title": "Expression cloning and characterization of human 17 beta-hydroxysteroid dehydrogenase type 2, a microsomal enzyme possessing 20 alpha-hydroxysteroid dehydrogenase activity.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Wu L, Einstein M, Geissler WM, Chan HK, Elliston KO, Andersson S", "evidence": [ { "database": "Reactome", "id": "R-HSA-193144", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193144" } ], "reference": [ { "type": "PubMed", "id": "8099587", "url": "https://glygen.org/publication/PubMed/8099587" } ] }, { "title": "Localization of the retinal protonated Schiff base counterion in rhodopsin.", "journal": "Biophysical journal", "date": "1993", "authors": "Han M, DeDecker BS, Smith SO", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "8105993", "url": "https://glygen.org/publication/PubMed/8105993" } ] }, { "title": "Detection of polymorphisms in the estradiol 17 beta-hydroxysteroid dehydrogenase II gene at the EDH17B2 locus on 17q11-q21.", "journal": "Hum. 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Chem.", "date": "1998", "authors": "Mazza C, Breton R, Housset D, Fontecilla-Camps J C", "evidence": [ { "database": "UniProtKB", "id": "P14061", "url": "https://www.uniprot.org/uniprot/P14061" } ], "reference": [ { "type": "PubMed", "id": "9525918", "url": "https://glygen.org/publication/PubMed/9525918" } ] }, { "title": "Structural and functional characterization of recombinant human cellular retinaldehyde-binding protein.", "journal": "Protein science : a publication of the Protein Society", "date": "1998", "authors": "Crabb JW, Carlson A, Chen Y, Goldflam S, Intres R, West KA, Hulmes JD, Kapron JT, Luck LA, Horwitz J, Bok D", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "9541407", "url": "https://glygen.org/publication/PubMed/9541407" } ] }, { "title": "The human photoreceptor rim protein gene (ABCR): genomic structure and primer set information for mutation analysis.", "journal": "Human genetics", "date": "1998", "authors": "Azarian SM, Megarity CF, Weng J, Horvath DH, Travis GH", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "9703434", "url": "https://glygen.org/publication/PubMed/9703434" } ] }, { "title": "17Beta-hydroxysteroid dehydrogenases in human bone cells.", "journal": "Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research", "date": "1998", "authors": "Dong Y, Qiu QQ, Debear J, Lathrop WF, Bertolini DR, Tamburini PP", "evidence": [ { "database": "Reactome", "id": "R-HSA-193144", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193144" } ], "reference": [ { "type": "PubMed", "id": "9783542", "url": "https://glygen.org/publication/PubMed/9783542" } ] }, { "title": "Molecular and biochemical characterization of lecithin retinol acyltransferase.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Ruiz A, Winston A, Lim YH, Gilbert BA, Rando RR, Bok D", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "9920938", "url": "https://glygen.org/publication/PubMed/9920938" } ] }, { "title": "Structure of the ternary complex of human 17beta-hydroxysteroid dehydrogenase type 1 with 3-hydroxyestra-1,3,5,7-tetraen-17-one (equilin) and NADP+.", "journal": "Proc. 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(atRAL) to all-trans-retinol (atROL) occurs in both rod and cone photoreceptor cells where multiple retinol dehydrogenases (RHDs) are located. RHDs belong to the short-chain dehydrogenase/reductase (SDR) superfamily. RDH8 (located in photoreceptor outer segments) is partially responsible, together with other RDHs, for mediating this reaction. 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+ NADH.", "evidence": [ { "id": "O54753", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O54753" } ] }, { "ec_number": "1.1.1.105", "activity": "all-trans-retinol + NAD(+) = all-trans-retinal + H(+) + NADH.", "evidence": [ { "id": "O54753", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O54753" } ] }, { "ec_number": "1.1.1.209", "activity": "androsterone + NADP(+) = 5alpha-androstan-3,17-dione + H(+) + NADPH.", "evidence": [ { "id": "O54753", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O54753" } ] }, { "ec_number": "1.1.1.53", "activity": "5alpha-androstane-3alpha,17beta-diol + NAD(+) = 17beta-hydroxy-5alpha-androstan-3-one + H(+) + NADH.", "evidence": [ { "id": "O54753", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O54753" } ] }, { "ec_number": "1.1.1.239", "activity": "", "evidence": [ { "id": "O54753", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O54753" } ] }, { "ec_number": "1.1.1.209", "activity": "", "evidence": [ { "id": "O54753", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O54753" } ] }, { "ec_number": "1.1.1.53", "activity": "", "evidence": [ { "id": "O54753", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O54753" } ] }, { "ec_number": "1.1.1.105", "activity": "", "evidence": [ { "id": "O54753", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O54753" } ] }, { "ec_number": "1.1.1.62", "activity": "", "evidence": [ { "id": "O54753", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O54753" } ] } ] }, { "uniprot_ac": "O54939", "gene_name": "Hsd17b3", "activity": [ { "ec_number": "1.1.1.62", "activity": "17beta-estradiol + NAD(+) = estrone + H(+) + NADH.", "evidence": [ { "id": "O54939", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O54939" } ] }, { "ec_number": "1.1.1.62", "activity": "", "evidence": [ { "id": "O54939", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O54939" } ] }, { "ec_number": "1.1.1.64", "activity": "NADP(+) + testosterone = androst-4-ene-3,17-dione + H(+) + NADPH.", "evidence": [ { "id": "O54939", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O54939" } ] } ] }, { "uniprot_ac": "O70351", "gene_name": "Hsd17b10", "activity": [ { "ec_number": "1.1.1.35", "activity": "a (3S)-3-hydroxyacyl-CoA + NAD(+) = a 3-oxoacyl-CoA + H(+) + NADH.", "evidence": [ { "id": "O70351", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O70351" } ] }, { "ec_number": "1.1.1.62", "activity": "17beta-estradiol + NAD(+) = estrone + H(+) + NADH.", "evidence": [ { "id": "O70351", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O70351" } ] }, { "ec_number": "1.1.1.239", "activity": "NAD(+) + testosterone = androst-4-ene-3,17-dione + H(+) + NADH.", "evidence": [ { "id": "O70351", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O70351" } ] }, { "ec_number": "1.1.1.178", "activity": "(2S,3S)-3-hydroxy-2-methylbutanoyl-CoA + NAD(+) = 2-methyl-3-oxobutanoyl-CoA + H(+) + NADH.", "evidence": [ { "id": "O70351", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O70351" } ] }, { "ec_number": "1.1.1.53", "activity": "5alpha-androstane-3alpha,17beta-diol + NAD(+) = 17beta-hydroxy-5alpha-androstan-3-one + H(+) + NADH.", "evidence": [ { "id": "O70351", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O70351" } ] }, { "ec_number": "1.1.1.159", "activity": "cholate + NAD(+) = 3alpha,12alpha-dihydroxy-7-oxo-5beta-cholanate + H(+) + NADH.", "evidence": [ { "id": "O70351", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O70351" } ] }, { "ec_number": "1.1.1.35", "activity": "", "evidence": [ { "id": "O70351", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O70351" } ] } ] }, { "uniprot_ac": "O70503", "gene_name": "Hsd17b12", "activity": [ { "ec_number": "1.1.1.330", "activity": "a very-long-chain (3R)-3-hydroxyacyl-CoA + NADP(+) = a very-long-chain 3-oxoacyl-CoA + H(+) + NADPH.", "evidence": [ { "id": "O70503", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O70503" } ] }, { "ec_number": "1.1.1.62", "activity": "17beta-estradiol + NAD(+) = estrone + H(+) + NADH.", "evidence": [ { "id": "O70503", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O70503" } ] }, { "ec_number": "1.1.1.330", "activity": "", "evidence": [ { "id": "O70503", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O70503" } ] } ] }, { "uniprot_ac": "O88736", "gene_name": "Hsd17b7", "activity": [ { "ec_number": "1.1.1.270", "activity": "4alpha-methyl-5alpha-cholest-7-en-3beta-ol + NADP(+) = 4alpha-methyl-5alpha-cholest-7-en-3-one + H(+) + NADPH.", "evidence": [ { "id": "O88736", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O88736" } ] }, { "ec_number": "1.1.1.270", "activity": "", "evidence": [ { "id": "O88736", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O88736" } ] }, { "ec_number": "1.1.1.62", "activity": "17beta-estradiol + NAD(+) = estrone + H(+) + NADH.", "evidence": [ { "id": "O88736", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O88736" } ] }, { "ec_number": "1.1.1.210", "activity": "5alpha-androstane-3beta,17beta-diol + NADP(+) = 17beta-hydroxy-5alpha-androstan-3-one + H(+) + NADPH.", "evidence": [ { "id": "O88736", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O88736" } ] } ] }, { "uniprot_ac": "P14061", "gene_name": "HSD17B1", "activity": [ { "ec_number": "1.1.1.62", "activity": "17beta-estradiol + NAD(+) = estrone + H(+) + NADH.", "evidence": [ { "id": "P14061", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14061" } ] }, { "ec_number": "1.1.1.62", "activity": "", "evidence": [ { "id": "P14061", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14061" } ] }, { "ec_number": "1.1.1.51", "activity": "NAD(+) + testosterone = androst-4-ene-3,17-dione + H(+) + NADH.", "evidence": [ { "id": "P14061", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14061" } ] }, { "ec_number": "1.1.1.51", "activity": "", "evidence": [ { "id": "P14061", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14061" } ] } ] }, { "uniprot_ac": "P17516", "gene_name": "AKR1C4", "activity": [ { "ec_number": "1.1.1.-", "activity": "", "evidence": [ { "id": "P17516", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P17516" } ] }, { "ec_number": "1.1.1.225", "activity": "chlordecone alcohol + NADP(+) = chlordecone + H(+) + NADPH.", "evidence": [ { "id": "P17516", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P17516" } ] }, { "ec_number": "1.1.1.357", "activity": "a 3alpha-hydroxysteroid + NADP(+) = a 3-oxosteroid + H(+) + NADPH.", "evidence": [ { "id": "P17516", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P17516" } ] }, { "ec_number": "1.1.1.62", "activity": "17beta-estradiol + NAD(+) = estrone + H(+) + NADH.", "evidence": [ { "id": "P17516", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P17516" } ] }, { "ec_number": "1.1.1.209", "activity": "androsterone + NADP(+) = 5alpha-androstan-3,17-dione + H(+) + NADPH.", "evidence": [ { "id": "P17516", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P17516" } ] }, { "ec_number": "1.1.1.51", "activity": "NAD(+) + testosterone = androst-4-ene-3,17-dione + H(+) + NADH.", "evidence": [ { "id": "P17516", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P17516" } ] }, { "ec_number": "1.1.1.210", "activity": "5alpha-androstane-3beta,17beta-diol + NADP(+) = 17beta-hydroxy-5alpha-androstan-3-one + H(+) + NADPH.", "evidence": [ { "id": "P17516", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P17516" } ] }, { "ec_number": "1.1.1.53", "activity": "5alpha-androstane-3alpha,17beta-diol + NAD(+) = 17beta-hydroxy-5alpha-androstan-3-one + H(+) + NADH.", "evidence": [ { "id": "P17516", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P17516" } ] }, { "ec_number": "1.1.1.62", "activity": "", "evidence": [ { "id": "P17516", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P17516" } ] }, { "ec_number": "1.1.1.209", "activity": "", "evidence": [ { "id": "P17516", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P17516" } ] }, { "ec_number": "1.1.1.53", "activity": "", "evidence": [ { "id": "P17516", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P17516" } ] }, { "ec_number": "1.1.1.51", "activity": "", "evidence": [ { "id": "P17516", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P17516" } ] }, { "ec_number": "1.1.1.210", "activity": "", "evidence": [ { "id": "P17516", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P17516" } ] } ] }, { "uniprot_ac": "P37058", "gene_name": "HSD17B3", "activity": [ { "ec_number": "1.1.1.62", "activity": "17beta-estradiol + NAD(+) = estrone + H(+) + NADH.", "evidence": [ { "id": "P37058", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P37058" } ] }, { "ec_number": "1.1.1.62", "activity": "", "evidence": [ { "id": "P37058", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P37058" } ] }, { "ec_number": "1.1.1.64", "activity": "NADP(+) + testosterone = androst-4-ene-3,17-dione + H(+) + NADPH.", "evidence": [ { "id": "P37058", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P37058" } ] } ] }, { "uniprot_ac": "P37059", "gene_name": "HSD17B2", "activity": [ { "ec_number": "1.1.1.62", "activity": "17beta-estradiol + NAD(+) = estrone + H(+) + NADH.", "evidence": [ { "id": "P37059", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P37059" } ] }, { "ec_number": "1.1.1.239", "activity": "NAD(+) + testosterone = androst-4-ene-3,17-dione + H(+) + NADH.", "evidence": [ { "id": "P37059", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P37059" } ] } ] }, { "uniprot_ac": "P42330", "gene_name": "AKR1C3", "activity": [ { "ec_number": "1.1.1.-", "activity": "", "evidence": [ { "id": "P42330", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42330" } ] }, { "ec_number": "1.1.1.357", "activity": "a 3alpha-hydroxysteroid + NADP(+) = a 3-oxosteroid + H(+) + NADPH.", "evidence": [ { "id": "P42330", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42330" } ] }, { "ec_number": "1.1.1.62", "activity": "17beta-estradiol + NAD(+) = estrone + H(+) + NADH.", "evidence": [ { "id": "P42330", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42330" } ] }, { "ec_number": "1.1.1.188", "activity": "NADP(+) + prostaglandin F2alpha = H(+) + NADPH + prostaglandin D2.", "evidence": [ { "id": "P42330", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42330" } ] }, { "ec_number": "1.1.1.239", "activity": "NAD(+) + testosterone = androst-4-ene-3,17-dione + H(+) + NADH.", "evidence": [ { "id": "P42330", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42330" } ] }, { "ec_number": "1.1.1.64", "activity": "NADP(+) + testosterone = androst-4-ene-3,17-dione + H(+) + NADPH.", "evidence": [ { "id": "P42330", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42330" } ] }, { "ec_number": "1.1.1.210", "activity": "5alpha-androstane-3beta,17beta-diol + NADP(+) = 17beta-hydroxy-5alpha-androstan-3-one + H(+) + NADPH.", "evidence": [ { "id": "P42330", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42330" } ] }, { "ec_number": "1.1.1.53", "activity": "5alpha-androstane-3alpha,17beta-diol + NAD(+) = 17beta-hydroxy-5alpha-androstan-3-one + H(+) + NADH.", "evidence": [ { "id": "P42330", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42330" } ] }, { "ec_number": "1.1.1.210", "activity": "", "evidence": [ { "id": "P42330", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42330" } ] }, { "ec_number": "1.1.1.53", "activity": "", "evidence": [ { "id": "P42330", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42330" } ] }, { "ec_number": "1.1.1.62", "activity": "", "evidence": [ { "id": "P42330", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42330" } ] } ] }, { "uniprot_ac": "P50171", "gene_name": "Hsd17b8", "activity": [ { "ec_number": "1.1.1.62", "activity": "17beta-estradiol + NAD(+) = estrone + H(+) + NADH.", "evidence": [ { "id": "P50171", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P50171" } ] }, { "ec_number": "1.1.1.239", "activity": "NAD(+) + testosterone = androst-4-ene-3,17-dione + H(+) + NADH.", "evidence": [ { "id": "P50171", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P50171" } ] }, { "ec_number": "1.1.1.n12", "activity": "a (3R)-3-hydroxyacyl-CoA + NAD(+) = a 3-oxoacyl-CoA + H(+) + NADH.", "evidence": [ { "id": "P50171", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P50171" } ] }, { "ec_number": "1.1.1.n12", "activity": "", "evidence": [ { "id": "P50171", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P50171" } ] } ] }, { "uniprot_ac": "P51656", "gene_name": "Hsd17b1", "activity": [ { "ec_number": "1.1.1.62", "activity": "17beta-estradiol + NAD(+) = estrone + H(+) + NADH.", "evidence": [ { "id": "P51656", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51656" } ] }, { "ec_number": "1.1.1.51", "activity": "NAD(+) + testosterone = androst-4-ene-3,17-dione + H(+) + NADH.", "evidence": [ { "id": "P51656", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51656" } ] }, { "ec_number": "1.1.1.51", "activity": "", "evidence": [ { "id": "P51656", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51656" } ] } ] }, { "uniprot_ac": "P51657", "gene_name": "Hsd17b1", "activity": [ { "ec_number": "1.1.1.62", "activity": "17beta-estradiol + NAD(+) = estrone + H(+) + NADH.", "evidence": [ { "id": "P51657", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51657" } ] }, { "ec_number": "1.1.1.62", "activity": "", "evidence": [ { "id": "P51657", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51657" } ] } ] }, { "uniprot_ac": "P51658", "gene_name": "Hsd17b2", "activity": [ { "ec_number": "1.1.1.62", "activity": "17beta-estradiol + NAD(+) = estrone + H(+) + NADH.", "evidence": [ { "id": "P51658", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51658" } ] }, { "ec_number": "1.1.1.239", "activity": "NAD(+) + testosterone = androst-4-ene-3,17-dione + H(+) + NADH.", "evidence": [ { "id": "P51658", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51658" } ] }, { "ec_number": "1.1.1.62", "activity": "", "evidence": [ { "id": "P51658", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51658" } ] } ] }, { "uniprot_ac": "P52895", "gene_name": "AKR1C2", "activity": [ { "ec_number": "1.-.-.-", "activity": "", "evidence": [ { "id": "P52895", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P52895" } ] }, { "ec_number": "1.1.1.357", "activity": "a 3alpha-hydroxysteroid + NADP(+) = a 3-oxosteroid + H(+) + NADPH.", "evidence": [ { "id": "P52895", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P52895" } ] }, { "ec_number": "1.1.1.62", "activity": "17beta-estradiol + NAD(+) = estrone + H(+) + NADH.", "evidence": [ { "id": "P52895", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P52895" } ] }, { "ec_number": "1.1.1.112", "activity": "(S)-indan-1-ol + NAD(+) = H(+) + indan-1-one + NADH.", "evidence": [ { "id": "P52895", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P52895" } ] }, { "ec_number": "1.3.1.20", "activity": "(1R,2R)-1,2-dihydrobenzene-1,2-diol + NADP(+) = catechol + H(+) + NADPH.", "evidence": [ { "id": "P52895", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P52895" } ] }, { "ec_number": "1.1.1.209", "activity": "androsterone + NADP(+) = 5alpha-androstan-3,17-dione + H(+) + NADPH.", "evidence": [ { "id": "P52895", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P52895" } ] }, { "ec_number": "1.1.1.53", "activity": "5alpha-androstane-3alpha,17beta-diol + NAD(+) = 17beta-hydroxy-5alpha-androstan-3-one + H(+) + NADH.", "evidence": [ { "id": "P52895", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P52895" } ] }, { "ec_number": "1.1.1.112", "activity": "", "evidence": [ { "id": "P52895", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P52895" } ] }, { "ec_number": "1.1.1.209", "activity": "", "evidence": [ { "id": "P52895", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P52895" } ] }, { "ec_number": "1.1.1.53", "activity": "", "evidence": [ { "id": "P52895", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P52895" } ] }, { "ec_number": "1.1.1.62", "activity": "", "evidence": [ { "id": "P52895", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P52895" } ] }, { "ec_number": "1.3.1.20", "activity": "", "evidence": [ { "id": "P52895", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P52895" } ] } ] }, { "uniprot_ac": "P56937", "gene_name": "HSD17B7", "activity": [ { "ec_number": "1.1.1.270", "activity": "4alpha-methyl-5alpha-cholest-7-en-3beta-ol + NADP(+) = 4alpha-methyl-5alpha-cholest-7-en-3-one + H(+) + NADPH.", "evidence": [ { "id": "P56937", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P56937" } ] }, { "ec_number": "1.1.1.62", "activity": "17beta-estradiol + NAD(+) = estrone + H(+) + NADH.", "evidence": [ { "id": "P56937", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P56937" } ] }, { "ec_number": "1.1.1.210", "activity": "5alpha-androstane-3beta,17beta-diol + NADP(+) = 17beta-hydroxy-5alpha-androstan-3-one + H(+) + NADPH.", "evidence": [ { "id": "P56937", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P56937" } ] } ] }, { "uniprot_ac": "P70385", "gene_name": "Hsd17b3", "activity": [ { "ec_number": "1.1.1.62", "activity": "17beta-estradiol + NAD(+) = estrone + H(+) + NADH.", "evidence": [ { "id": "P70385", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P70385" } ] }, { "ec_number": "1.1.1.62", "activity": "", "evidence": [ { "id": "P70385", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P70385" } ] }, { "ec_number": "1.1.1.64", "activity": "NADP(+) + testosterone = androst-4-ene-3,17-dione + H(+) + NADPH.", "evidence": [ { "id": "P70385", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P70385" } ] } ] }, { "uniprot_ac": "Q04828", "gene_name": "AKR1C1", "activity": [ { "ec_number": "1.1.1.-", "activity": "", "evidence": [ { "id": "Q04828", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q04828" } ] }, { "ec_number": "1.1.1.357", "activity": "a 3alpha-hydroxysteroid + NADP(+) = a 3-oxosteroid + H(+) + NADPH.", "evidence": [ { "id": "Q04828", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q04828" } ] }, { "ec_number": "1.1.1.62", "activity": "17beta-estradiol + NAD(+) = estrone + H(+) + NADH.", "evidence": [ { "id": "Q04828", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q04828" } ] }, { "ec_number": "1.1.1.112", "activity": "(S)-indan-1-ol + NAD(+) = H(+) + indan-1-one + NADH.", "evidence": [ { "id": "Q04828", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q04828" } ] }, { "ec_number": "1.1.1.149", "activity": "(17R,20S)-17,20-dihydroxypregn-4-en-3-one + NAD(+) = 17alpha-hydroxyprogesterone + H(+) + NADH.", "evidence": [ { "id": "Q04828", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q04828" } ] }, { "ec_number": "1.3.1.20", "activity": "(1R,2R)-1,2-dihydrobenzene-1,2-diol + NADP(+) = catechol + H(+) + NADPH.", "evidence": [ { "id": "Q04828", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q04828" } ] }, { "ec_number": "1.1.1.209", "activity": "androsterone + NADP(+) = 5alpha-androstan-3,17-dione + H(+) + NADPH.", "evidence": [ { "id": "Q04828", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q04828" } ] }, { "ec_number": "1.1.1.51", "activity": "NAD(+) + testosterone = androst-4-ene-3,17-dione + H(+) + NADH.", "evidence": [ { "id": "Q04828", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q04828" } ] }, { "ec_number": "1.1.1.210", "activity": "5alpha-androstane-3beta,17beta-diol + NADP(+) = 17beta-hydroxy-5alpha-androstan-3-one + H(+) + NADPH.", "evidence": [ { "id": "Q04828", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q04828" } ] }, { "ec_number": "1.1.1.53", "activity": "5alpha-androstane-3alpha,17beta-diol + NAD(+) = 17beta-hydroxy-5alpha-androstan-3-one + H(+) + NADH.", "evidence": [ { "id": "Q04828", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q04828" } ] }, { "ec_number": "1.1.1.62", "activity": "", "evidence": [ { "id": "Q04828", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q04828" } ] }, { "ec_number": "1.1.1.209", "activity": "", "evidence": [ { "id": "Q04828", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q04828" } ] }, { "ec_number": "1.3.1.20", "activity": "", "evidence": [ { "id": "Q04828", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q04828" } ] }, { "ec_number": "1.1.1.53", "activity": "", "evidence": [ { "id": "Q04828", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q04828" } ] }, { "ec_number": "1.1.1.112", "activity": "", "evidence": [ { "id": "Q04828", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q04828" } ] }, { "ec_number": "1.1.1.210", "activity": "", "evidence": [ { "id": "Q04828", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q04828" } ] }, { "ec_number": "1.1.1.357", "activity": "", "evidence": [ { "id": "Q04828", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q04828" } ] }, { "ec_number": "1.1.1.51", "activity": "", "evidence": [ { "id": "Q04828", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q04828" } ] } ] }, { "uniprot_ac": "Q3U0B3", "gene_name": "Dhrs11", "activity": [ { "ec_number": "1.1.1.270", "activity": "4alpha-methyl-5alpha-cholest-7-en-3beta-ol + NADP(+) = 4alpha-methyl-5alpha-cholest-7-en-3-one + H(+) + NADPH.", "evidence": [ { "id": "Q3U0B3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q3U0B3" } ] }, { "ec_number": "1.1.1.62", "activity": "17beta-estradiol + NAD(+) = estrone + H(+) + NADH.", "evidence": [ { "id": "Q3U0B3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q3U0B3" } ] } ] }, { "uniprot_ac": "Q53GQ0", "gene_name": "HSD17B12", "activity": [ { "ec_number": "1.1.1.62", "activity": "17beta-estradiol + NAD(+) = estrone + H(+) + NADH.", "evidence": [ { "id": "Q53GQ0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q53GQ0" } ] }, { "ec_number": "1.1.1.62", "activity": "", "evidence": [ { "id": "Q53GQ0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q53GQ0" } ] }, { "ec_number": "1.1.1.330", "activity": "a very-long-chain (3R)-3-hydroxyacyl-CoA + NADP(+) = a very-long-chain 3-oxoacyl-CoA + H(+) + NADPH.", "evidence": [ { "id": "Q53GQ0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q53GQ0" } ] }, { "ec_number": "1.1.1.330", "activity": "", "evidence": [ { "id": "Q53GQ0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q53GQ0" } ] } ] }, { "uniprot_ac": "Q5M875", "gene_name": "Hsd17b13", "activity": [ { "ec_number": "1.1.1.-", "activity": "", "evidence": [ { "id": "Q5M875", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5M875" } ] }, { "ec_number": "1.1.1.62", "activity": "17beta-estradiol + NAD(+) = estrone + H(+) + NADH.", "evidence": [ { "id": "Q5M875", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5M875" } ] }, { "ec_number": "1.1.1.105", "activity": "all-trans-retinol + NAD(+) = all-trans-retinal + H(+) + NADH.", "evidence": [ { "id": "Q5M875", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5M875" } ] }, { "ec_number": "1.1.1.62", "activity": "", "evidence": [ { "id": "Q5M875", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5M875" } ] } ] }, { "uniprot_ac": "Q5T2L2", "gene_name": "AKR1C8", "activity": [ { "ec_number": "1.1.1.-", "activity": "", "evidence": [ { "id": "Q5T2L2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5T2L2" } ] } ] }, { "uniprot_ac": "Q62730", "gene_name": "Hsd17b2", "activity": [ { "ec_number": "1.1.1.62", "activity": "17beta-estradiol + NAD(+) = estrone + H(+) + NADH.", "evidence": [ { "id": "Q62730", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q62730" } ] }, { "ec_number": "1.1.1.239", "activity": "NAD(+) + testosterone = androst-4-ene-3,17-dione + H(+) + NADH.", "evidence": [ { "id": "Q62730", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q62730" } ] }, { "ec_number": "1.1.1.62", "activity": "", "evidence": [ { "id": "Q62730", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q62730" } ] } ] }, { "uniprot_ac": "Q62904", "gene_name": "Hsd17b7", "activity": [ { "ec_number": "1.1.1.270", "activity": "4alpha-methyl-5alpha-cholest-7-en-3beta-ol + NADP(+) = 4alpha-methyl-5alpha-cholest-7-en-3-one + H(+) + NADPH.", "evidence": [ { "id": "Q62904", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q62904" } ] }, { "ec_number": "1.1.1.270", "activity": "", "evidence": [ { "id": "Q62904", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q62904" } ] }, { "ec_number": "1.1.1.62", "activity": "17beta-estradiol + NAD(+) = estrone + H(+) + NADH.", "evidence": [ { "id": "Q62904", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q62904" } ] }, { "ec_number": "1.1.1.210", "activity": "5alpha-androstane-3beta,17beta-diol + NADP(+) = 17beta-hydroxy-5alpha-androstan-3-one + H(+) + NADPH.", "evidence": [ { "id": "Q62904", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q62904" } ] } ] }, { "uniprot_ac": "Q6AYS8", "gene_name": "Hsd17b11", "activity": [ { "ec_number": "1.1.1.62", "activity": "17beta-estradiol + NAD(+) = estrone + H(+) + NADH.", "evidence": [ { "id": "Q6AYS8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6AYS8" } ] }, { "ec_number": "1.1.1.62", "activity": "", "evidence": [ { "id": "Q6AYS8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6AYS8" } ] } ] }, { "uniprot_ac": "Q6MGB5", "gene_name": "Hsd17b8", "activity": [ { "ec_number": "1.1.1.62", "activity": "17beta-estradiol + NAD(+) = estrone + H(+) + NADH.", "evidence": [ { "id": "Q6MGB5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6MGB5" } ] }, { "ec_number": "1.1.1.239", "activity": "NAD(+) + testosterone = androst-4-ene-3,17-dione + H(+) + NADH.", "evidence": [ { "id": "Q6MGB5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6MGB5" } ] }, { "ec_number": "1.1.1.n12", "activity": "a (3R)-3-hydroxyacyl-CoA + NAD(+) = a 3-oxoacyl-CoA + H(+) + NADH.", "evidence": [ { "id": "Q6MGB5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6MGB5" } ] }, { "ec_number": "1.1.1.n12", "activity": "", "evidence": [ { "id": "Q6MGB5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6MGB5" } ] } ] }, { "uniprot_ac": "Q6P7R8", "gene_name": "Hsd17b12", "activity": [ { "ec_number": "1.1.1.330", "activity": "a very-long-chain (3R)-3-hydroxyacyl-CoA + NADP(+) = a very-long-chain 3-oxoacyl-CoA + H(+) + NADPH.", "evidence": [ { "id": "Q6P7R8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6P7R8" } ] }, { "ec_number": "1.1.1.62", "activity": "17beta-estradiol + NAD(+) = estrone + H(+) + NADH.", "evidence": [ { "id": "Q6P7R8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6P7R8" } ] }, { "ec_number": "1.1.1.62", "activity": "", "evidence": [ { "id": "Q6P7R8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6P7R8" } ] }, { "ec_number": "1.1.1.330", "activity": "", "evidence": [ { "id": "Q6P7R8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6P7R8" } ] } ] }, { "uniprot_ac": "Q6UWP2", "gene_name": "DHRS11", "activity": [ { "ec_number": "1.1.1.270", "activity": "4alpha-methyl-5alpha-cholest-7-en-3beta-ol + NADP(+) = 4alpha-methyl-5alpha-cholest-7-en-3-one + H(+) + NADPH.", "evidence": [ { "id": "Q6UWP2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6UWP2" } ] }, { "ec_number": "1.1.1.62", "activity": "17beta-estradiol + NAD(+) = estrone + H(+) + NADH.", "evidence": [ { "id": "Q6UWP2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6UWP2" } ] } ] }, { "uniprot_ac": "Q7Z5P4", "gene_name": "HSD17B13", "activity": [ { "ec_number": "1.1.1.-", "activity": "", "evidence": [ { "id": "Q7Z5P4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7Z5P4" } ] }, { "ec_number": "1.1.1.62", "activity": "17beta-estradiol + NAD(+) = estrone + H(+) + NADH.", "evidence": [ { "id": "Q7Z5P4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7Z5P4" } ] }, { "ec_number": "1.1.1.105", "activity": "all-trans-retinol + NAD(+) = all-trans-retinal + H(+) + NADH.", "evidence": [ { "id": "Q7Z5P4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7Z5P4" } ] }, { "ec_number": "1.1.1.62", "activity": "", "evidence": [ { "id": "Q7Z5P4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7Z5P4" } ] } ] }, { "uniprot_ac": "Q8NBQ5", "gene_name": "HSD17B11", "activity": [ { "ec_number": "1.1.1.62", "activity": "17beta-estradiol + NAD(+) = estrone + H(+) + NADH.", "evidence": [ { "id": "Q8NBQ5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NBQ5" } ] }, { "ec_number": "1.1.1.62", "activity": "", "evidence": [ { "id": "Q8NBQ5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NBQ5" } ] } ] }, { "uniprot_ac": "Q8VCR2", "gene_name": "Hsd17b13", "activity": [ { "ec_number": "1.1.1.-", "activity": "", "evidence": [ { "id": "Q8VCR2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8VCR2" } ] }, { "ec_number": "1.1.1.62", "activity": "17beta-estradiol + NAD(+) = estrone + H(+) + NADH.", "evidence": [ { "id": "Q8VCR2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8VCR2" } ] }, { "ec_number": "1.1.1.105", "activity": "all-trans-retinol + NAD(+) = all-trans-retinal + H(+) + NADH.", "evidence": [ { "id": "Q8VCR2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8VCR2" } ] }, { "ec_number": "1.1.1.62", "activity": "", "evidence": [ { "id": "Q8VCR2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8VCR2" } ] } ] }, { "uniprot_ac": "Q92506", "gene_name": "HSD17B8", "activity": [ { "ec_number": "1.1.1.62", "activity": "17beta-estradiol + NAD(+) = estrone + H(+) + NADH.", "evidence": [ { "id": "Q92506", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92506" } ] }, { "ec_number": "1.1.1.239", "activity": "NAD(+) + testosterone = androst-4-ene-3,17-dione + H(+) + NADH.", "evidence": [ { "id": "Q92506", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92506" } ] }, { "ec_number": "1.1.1.n12", "activity": "a (3R)-3-hydroxyacyl-CoA + NAD(+) = a 3-oxoacyl-CoA + H(+) + NADH.", "evidence": [ { "id": "Q92506", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92506" } ] }, { "ec_number": "1.1.1.n12", "activity": "", "evidence": [ { "id": "Q92506", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92506" } ] } ] }, { "uniprot_ac": "Q96LJ7", "gene_name": "DHRS1", "activity": [ { "ec_number": "1.1.1.-", "activity": "", "evidence": [ { "id": "Q96LJ7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96LJ7" } ] } ] }, { "uniprot_ac": "Q99714", "gene_name": "HSD17B10", "activity": [ { "ec_number": "1.1.1.35", "activity": "a (3S)-3-hydroxyacyl-CoA + NAD(+) = a 3-oxoacyl-CoA + H(+) + NADH.", "evidence": [ { "id": "Q99714", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99714" } ] }, { "ec_number": "1.1.1.62", "activity": "17beta-estradiol + NAD(+) = estrone + H(+) + NADH.", "evidence": [ { "id": "Q99714", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99714" } ] }, { "ec_number": "1.1.1.239", "activity": "NAD(+) + testosterone = androst-4-ene-3,17-dione + H(+) + NADH.", "evidence": [ { "id": "Q99714", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99714" } ] }, { "ec_number": "1.1.1.178", "activity": "(2S,3S)-3-hydroxy-2-methylbutanoyl-CoA + NAD(+) = 2-methyl-3-oxobutanoyl-CoA + H(+) + NADH.", "evidence": [ { "id": "Q99714", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99714" } ] }, { "ec_number": "1.1.1.53", "activity": "5alpha-androstane-3alpha,17beta-diol + NAD(+) = 17beta-hydroxy-5alpha-androstan-3-one + H(+) + NADH.", "evidence": [ { "id": "Q99714", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99714" } ] }, { "ec_number": "1.1.1.159", "activity": "cholate + NAD(+) = 3alpha,12alpha-dihydroxy-7-oxo-5beta-cholanate + H(+) + NADH.", "evidence": [ { "id": "Q99714", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99714" } ] }, { "ec_number": "1.1.1.35", "activity": "", "evidence": [ { "id": "Q99714", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99714" } ] } ] }, { "uniprot_ac": "Q99L04", "gene_name": "Dhrs1", "activity": [ { "ec_number": "1.1.1.-", "activity": "", "evidence": [ { "id": "Q99L04", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99L04" } ] } ] }, { "uniprot_ac": "Q9BPX1", "gene_name": "HSD17B14", "activity": [ { "ec_number": "1.1.1.62", "activity": "17beta-estradiol + NAD(+) = estrone + H(+) + NADH.", "evidence": [ { "id": "Q9BPX1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BPX1" } ] }, { "ec_number": "1.1.1.62", "activity": "", "evidence": [ { "id": "Q9BPX1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BPX1" } ] } ] }, { "uniprot_ac": "Q9EQ06", "gene_name": "Hsd17b11", "activity": [ { "ec_number": "1.1.1.62", "activity": "17beta-estradiol + NAD(+) = estrone + H(+) + NADH.", "evidence": [ { "id": "Q9EQ06", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9EQ06" } ] }, { "ec_number": "1.1.1.62", "activity": "", "evidence": [ { "id": "Q9EQ06", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9EQ06" } ] } ] }, { "uniprot_ac": "Q9NYR8", "gene_name": "RDH8", "activity": [ { "ec_number": "1.1.1.300", "activity": "all-trans-retinol + NADP(+) = all-trans-retinal + H(+) + NADPH.", "evidence": [ { "id": "Q9NYR8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NYR8" } ] }, { "ec_number": "1.1.1.300", "activity": "", "evidence": [ { "id": "Q9NYR8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NYR8" } ] } ] }, { "uniprot_ac": "Q9R092", "gene_name": "Hsd17b6", "activity": [ { "ec_number": "1.1.1.62", "activity": "17beta-estradiol + NAD(+) = estrone + H(+) + NADH.", "evidence": [ { "id": "Q9R092", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9R092" } ] }, { "ec_number": "1.1.1.239", "activity": "NAD(+) + testosterone = androst-4-ene-3,17-dione + H(+) + NADH.", "evidence": [ { "id": "Q9R092", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9R092" } ] }, { "ec_number": 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