{ "uniprot_canonical_ac": "P14060-1", "uniprot_ac": "P14060", "uniprot_id": "3BHS1_HUMAN", "mass": { "chemical_mass": 42252.0, "monoisotopic_mass": 42252.0 }, "refseq": { "ac": "NP_000853", "name": "3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1", "summary": "The protein encoded by this gene is an enzyme that catalyzes the oxidative conversion of delta-5-3-beta-hydroxysteroid precursors into delta-4-ketosteroids, which leads to the production of all classes of steroid hormones. The encoded protein also catalyzes the interconversion of 3-beta-hydroxy- and 3-keto-5-alpha-androstane steroids. [provided by RefSeq, Jun 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000853" }, "gene_names": [ { "name": "HSD3B1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P14060", "id": "P14060" }, { "name": "3BETAHSD; HSD3B; HSDB3; HSDB3A; SDR11E1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000853", "id": "NP_000853" }, { "name": "3BH", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P14060", "id": "P14060" }, { "name": "HSD3B1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000853", "id": "NP_000853" }, { "name": "HSDB3A", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P14060", "id": "P14060" } ], "protein_names": [ { "name": "3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P14060" }, { "name": "1.1.1.145", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P14060" }, { "name": "1.1.1.210", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P14060" }, { "name": "1.1.1.270", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P14060" }, { "name": "3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000853", "id": "NP_000853" }, { "name": "3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type I", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P14060" }, { "name": "3-beta-HSD I", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P14060" }, { "name": "3-beta-hydroxy-5-ene steroid dehydrogenase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P14060" }, { "name": "3-beta-hydroxy-Delta(5)-steroid dehydrogenase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P14060" }, { "name": "3-beta-hydroxysteroid 3-dehydrogenase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P14060" }, { "name": "5.3.3.1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P14060" }, { "name": "Delta-5-3-ketosteroid isomerase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P14060" }, { "name": "Dihydrotestosterone oxidoreductase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P14060" }, { "name": "Steroid Delta-isomerase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P14060" }, { "name": "Trophoblast antigen FDO161G", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P14060" }, { "name": "short chain dehydrogenase/reductase family 11E, member 1; trophoblast antigen FDO161G; delta-5-3-ketosteroid isomerase; progesterone reductase; steroid Delta-isomerase; 3-beta-hydroxy-5-ene steroid dehydrogenase; 3-beta-hydroxy-Delta(5)-steroid dehydrogenase; 3-beta-HSD I; 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type I; dihydrotestosterone oxidoreductase; 3-beta-hydroxysteroid 3-dehydrogenase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000853", "id": "NP_000853" } ], "function": [ { "annotation": "A bifunctional enzyme responsible for the oxidation and isomerization of 3beta-hydroxy-Delta(5)-steroid precursors to 3-oxo-Delta(4)-steroids, an essential step in steroid hormone biosynthesis. Specifically catalyzes the conversion of pregnenolone to progesterone, 17alpha-hydroxypregnenolone to 17alpha-hydroxyprogesterone, dehydroepiandrosterone (DHEA) to 4-androstenedione, and androstenediol to testosterone. Additionally, catalyzes the interconversion between 3beta-hydroxy and 3-oxo-5alpha-androstane steroids controlling the bioavalability of the active forms. Specifically converts dihydrotestosterone to its inactive form 5alpha-androstanediol, that does not bind androgen receptor/AR. Also converts androstanedione, a precursor of testosterone and estrone, to epiandrosterone (PubMed:1401999, PubMed:2139411). Expected to use NAD(+) as preferred electron donor for the 3beta-hydroxy-steroid dehydrogenase activity and NADPH for the 3-ketosteroid reductase activity (Probable).", "evidence": [ { "database": "UniProtKB", "id": "P14060", "url": "https://www.uniprot.org/uniprot/P14060#function" }, { "database": "PubMed", "id": "2139411", "url": "https://glygen.org/publication/PubMed/2139411" }, { "database": "PubMed", "id": "1401999", "url": "https://glygen.org/publication/PubMed/1401999" } ] }, { "annotation": "Association Between Adrenal-Restrictive HSD3B1 Inheritance and Hormone-Independent Subtypes of Endometrial and Breast Cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_000853", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000853" }, { "database": "PubMed", "id": "35947687", "url": "https://glygen.org/publication/PubMed/35947687" } ] }, { "annotation": "HSD3B1 Expression Is Upregulated by Interleukin 4 in HT-29 Colon Cancer Cells via Multiple Signaling Pathways. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000853", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000853" }, { "database": "PubMed", "id": "36362361", "url": "https://glygen.org/publication/PubMed/36362361" } ] }, { "annotation": "HSD3B1 is an oxysterol 3beta-hydroxysteroid dehydrogenase in human placenta.", "evidence": [ { "database": "RefSeq", "id": "NP_000853", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000853" }, { "database": "PubMed", "id": "37132223", "url": "https://glygen.org/publication/PubMed/37132223" } ] }, { "annotation": "High carrier frequency of a nonsense p.Trp230* variant in HSD3B2 gene in Ossetians. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000853", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000853" }, { "database": "PubMed", "id": "37274334", "url": "https://glygen.org/publication/PubMed/37274334" } ] }, { "annotation": "Intratumoral androgen biosynthesis associated with 3beta-hydroxysteroid dehydrogenase 1 promotes resistance to radiotherapy in prostate cancer. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000853", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000853" }, { "database": "PubMed", "id": "37966114", "url": "https://glygen.org/publication/PubMed/37966114" } ] }, { "annotation": "The protein encoded by this gene is an enzyme that catalyzes the oxidative conversion of delta-5-3-beta-hydroxysteroid precursors into delta-4-ketosteroids, which leads to the production of all classes of steroid hormones. The encoded protein also catalyzes the interconversion of 3-beta-hydroxy- and 3-keto-5-alpha-androstane steroids. [provided by RefSeq, Jun 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_000853", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000853" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "P14060", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P14060" } ], "glycoeffect": [], "start_pos": 339, "end_pos": 339, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (4).", "chr_id": "1", "chr_pos": "119514539", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A339", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "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": "" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "56.43", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000203857", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000203857" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "45.41", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000203857", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000203857" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "45.25", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000203857", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000203857" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000203857", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000203857" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "51.97", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000203857", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000203857" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "60.18", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000203857", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000203857" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000203857", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000203857" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "43.61", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000203857", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000203857" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "55.05", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000203857", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000203857" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000203857", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000203857" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "47.71", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000203857", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000203857" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "55.07", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000203857", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000203857" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "53.68", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000203857", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000203857" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P14060", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P14060" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P14060", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P14060" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P14060", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P14060" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P14060", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P14060" } ], "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": "P14060", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P14060" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P14060", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P14060" } ], "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": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P14060", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P14060" } ], "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": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P14060", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P14060" } ], "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": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P14060", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P14060" } ], "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": "P14060", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P14060" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P14060", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P14060" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "P14060", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P14060" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P14060", "url": "https://www.uniprot.org/uniprot/P14060" } ], "common_name": "Human" } ], "gene": [ { "name": "HSD3B1", "url": "https://www.uniprot.org/uniprot/P14060", "locus": { "chromosome": "1", "start_pos": 119515054, "end_pos": 119507198, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000203857", "url": "https://www.ensembl.org/id/ENSG00000203857" } ] } } ], "crossref": [ { "id": "ENSG00000203857", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000203857", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "P14060", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P14060", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "1.1.1.145", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=1.1.1.145&UniProtAcc=P14060", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "5.3.3.1", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=5.3.3.1&UniProtAcc=P14060", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "cd09811", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd09811", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CHEMBL1958", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL1958", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "HSD3B1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD3B1", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "3283", "url": "https://www.ncbi.nlm.nih.gov/gene/3283", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "5217", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=5217", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "P14060", "url": "https://www.ebi.ac.uk/intact/interactors/id:P14060*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR002225", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002225", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036291", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036291", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:3283", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:3283", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "109715", "url": "http://www.omim.org/entry/109715", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P14060", "url": "https://www.nextprot.org/entry/NX_P14060", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "P14060", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P14060", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "APVPFWH", "url": "https://omabrowser.org/oma/group/APVPFWH/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "3675908at2759", "url": "http://www.orthodb.org/?query=3675908at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR43245", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR43245", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR43245:SF51", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR43245:SF51", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF01073", "url": "http://pfam.xfam.org/family/PF01073", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P14060", "url": "https://pharos.nih.gov/targets/P14060", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P14060", "url": "http://purl.obolibrary.org/obo/PR_P14060", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-193048", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193048", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-193993", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193993", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-194002", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-194002", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000853", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000853", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "14709", "url": "https://www.rhea-db.org/rhea/14709", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "16297", "url": "https://www.rhea-db.org/rhea/16297", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "24076", "url": "https://www.rhea-db.org/rhea/24076", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "34787", "url": "https://www.rhea-db.org/rhea/34787", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "42184", "url": "https://www.rhea-db.org/rhea/42184", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "43924", "url": "https://www.rhea-db.org/rhea/43924", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "43928", "url": "https://www.rhea-db.org/rhea/43928", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "43932", "url": "https://www.rhea-db.org/rhea/43932", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "43936", "url": "https://www.rhea-db.org/rhea/43936", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "56916", "url": "https://www.rhea-db.org/rhea/56916", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "56932", "url": "https://www.rhea-db.org/rhea/56932", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "56936", "url": "https://www.rhea-db.org/rhea/56936", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "E9PRN7", "url": "https://www.uniprot.org/uniprot/E9PRN7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PRN7-1", "url": "https://www.uniprot.org/uniprot/E9PRN7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P14060", "url": "https://www.uniprot.org/uniprot/P14060", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P14060-1", "url": "https://www.uniprot.org/uniprot/P14060-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MTGWSCLVTGAGGFLGQRIIRLLVKEKELKEIRVLDKAFGPELREEFSKLQNKTKLTVLEGDILDEPFLKRACQDVSVIIHTACIIDVFGVTHRESIMNVNVKGTQLLLEACVQASVPVFIYTSSIEVAGPNSYKEIIQNGHEEEPLENTWPAPYPHSKKLAEKAVLAANGWNLKNGGTLYTCALRPMYIYGEGSRFLSASINEALNNNGILSSVGKFSTVNPVYVGNVAWAHILALRALQDPKKAPSIRGQFYYISDDTPHQSYDNLNYTLSKEFGLRLDSRWSFPLSLMYWIGFLLEIVSFLLRPIYTYRPPFNRHIVTLSNSVFTFSYKKAQRDLAYKPLYSWEEAKQKTVEWVGSLVDRHKETLKSKTQ", "length": 373, "header": "sp|P14060-1|3BHS1_HUMAN Isoform 1 of 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1 OS=Homo sapiens OX=9606 GN=HSD3B1 PE=1 SV=2 CANONICAL=P14060-1" }, "isoforms": [ { "isoform_ac": "E9PRN7-1", "url": "", "sequence": { "sequence": "MTGWSCLVTGAGGFLGQRIIRLLVKEKELKEIRVLDKAFGPELREEFSKLQNKTKLTVLEGDILDEPFLKRACQDVSVIIH", "length": 81, "header": "tr|E9PRN7-1|3BHS1_HUMAN Computationally mapped isoform of 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1 OS=Homo sapiens OX=9606 GN=HSD3B1 PE=1 SV=8 CANONICAL=P14060-1" }, "locus": { "chromosome": "1", "start_pos": 119511600, "end_pos": 119507477, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000531340.5", "url": "https://www.ensembl.org/id/ENST00000531340.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000435999.1", "url": "https://www.ensembl.org/id/ENSP00000435999.1" } ] } }, { "isoform_ac": "P14060-1", "url": "", "sequence": { "sequence": "MTGWSCLVTGAGGFLGQRIIRLLVKEKELKEIRVLDKAFGPELREEFSKLQNKTKLTVLEGDILDEPFLKRACQDVSVIIHTACIIDVFGVTHRESIMNVNVKGTQLLLEACVQASVPVFIYTSSIEVAGPNSYKEIIQNGHEEEPLENTWPAPYPHSKKLAEKAVLAANGWNLKNGGTLYTCALRPMYIYGEGSRFLSASINEALNNNGILSSVGKFSTVNPVYVGNVAWAHILALRALQDPKKAPSIRGQFYYISDDTPHQSYDNLNYTLSKEFGLRLDSRWSFPLSLMYWIGFLLEIVSFLLRPIYTYRPPFNRHIVTLSNSVFTFSYKKAQRDLAYKPLYSWEEAKQKTVEWVGSLVDRHKETLKSKTQ", "length": 373, "header": "sp|P14060-1|3BHS1_HUMAN Isoform 1 of 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1 OS=Homo sapiens OX=9606 GN=HSD3B1 PE=1 SV=2 CANONICAL=P14060-1" }, "locus": { "chromosome": "1", "start_pos": 119514642, "end_pos": 119507477, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000369413.8", "url": "https://www.ensembl.org/id/ENST00000369413.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000358421.3", "url": "https://www.ensembl.org/id/ENSP00000358421.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P14060", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P14060" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Characterization of single-nucleotide polymorphisms in coding regions of human genes.", "journal": "Nat. Genet.", "date": "1999", "authors": "Cargill M, Altshuler D, Ireland J, Sklar P, Ardlie K, Patil N, Shaw N, Lane CR, Lim EP, Kalyanaraman N, Nemesh J, Ziaugra L, Friedland L, Rolfe A, Warrington J, Lipshutz R, Daley GQ, Lander ES", "evidence": [ { "database": "UniProtKB", "id": "P14060", "url": "https://www.uniprot.org/uniprot/P14060" } ], "reference": [ { "type": "PubMed", "id": "10391209", "url": "https://glygen.org/publication/PubMed/10391209" } ] }, { "title": "Molecular modeling of human P450c17 (17alpha-hydroxylase/17,20-lyase): insights into reaction mechanisms and effects of mutations.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "1999", "authors": "Auchus RJ, Miller WL", "evidence": [ { "database": "Reactome", "id": "R-HSA-193048", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193048" } ], "reference": [ { "type": "PubMed", "id": "10406467", "url": "https://glygen.org/publication/PubMed/10406467" } ] }, { "title": "Finasteride for benign prostatic hyperplasia.", "journal": "American family physician", "date": "1992", "authors": "Hasinski S, Miller JL, Rose LI", "evidence": [ { "database": "Reactome", "id": "R-HSA-193048", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193048" } ], "reference": [ { "type": "PubMed", "id": "1279965", "url": "https://glygen.org/publication/PubMed/1279965" } ] }, { "title": "Structure/function relationships responsible for coenzyme specificity and the isomerase activity of human type 1 3 beta-hydroxysteroid dehydrogenase/isomerase.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Thomas JL, Duax WL, Addlagatta A, Brandt S, Fuller RR, Norris W", "evidence": [ { "database": "Reactome", "id": "R-HSA-193993", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193993" } ], "reference": [ { "type": "PubMed", "id": "12832414", "url": "https://glygen.org/publication/PubMed/12832414" } ] }, { "title": "Characterization, expression, and immunohistochemical localization of 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4 isomerase in human skin.", "journal": "The Journal of investigative dermatology", "date": "1992", "authors": "Dumont M, Luu-The V, Dupont E, Pelletier G, Labrie F", "evidence": [ { "database": "UniProtKB", "id": "P14060", "url": "https://www.uniprot.org/uniprot/P14060" } ], "reference": [ { "type": "PubMed", "id": "1401999", "url": "https://glygen.org/publication/PubMed/1401999" } ] }, { "title": "Azelaic acid. A review of its pharmacological properties and therapeutic efficacy in acne and hyperpigmentary skin disorders.", "journal": "Drugs", "date": "1991", "authors": "Fitton A, Goa KL", "evidence": [ { "database": "Reactome", "id": "R-HSA-193048", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193048" } ], "reference": [ { "type": "PubMed", "id": "1712709", "url": "https://glygen.org/publication/PubMed/1712709" } ] }, { "title": "Novel 5 alpha-steroid reductase (SRD5A3, type-3) is overexpressed in hormone-refractory prostate cancer.", "journal": "Cancer science", "date": "2008", "authors": "Uemura M, Tamura K, Chung S, Honma S, Okuyama A, Nakamura Y, Nakagawa H", "evidence": [ { "database": "Reactome", "id": "R-HSA-193048", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193048" } ], "reference": [ { "type": "PubMed", "id": "17986282", "url": "https://glygen.org/publication/PubMed/17986282" } ] }, { "title": "Dutasteride: a review of its use in the management of prostate disorders.", "journal": "Drugs", "date": "2008", "authors": "Keam SJ, Scott LJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-193048", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193048" } ], "reference": [ { "type": "PubMed", "id": "18318566", "url": "https://glygen.org/publication/PubMed/18318566" } ] }, { "title": "The human gene for 11 beta-hydroxysteroid dehydrogenase. Structure, tissue distribution, and chromosomal localization.", "journal": "The Journal of biological chemistry", "date": "1991", "authors": "Tannin GM, Agarwal AK, Monder C, New MI, White PC", "evidence": [ { "database": "Reactome", "id": "R-HSA-194002", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-194002" } ], "reference": [ { "type": "PubMed", "id": "1885595", "url": "https://glygen.org/publication/PubMed/1885595" } ] }, { "title": "Molecular cloning and expression of human trophoblast antigen FDO161G and its identification as 3 beta-hydroxy-5-ene steroid dehydrogenase.", "journal": "J. Reprod. Fertil.", "date": "1991", "authors": "Nickson DA, McBride MW, Zeinali S, Hawes CS, Petropoulos A, Mueller UW, Sutcliffe RG", "evidence": [ { "database": "UniProtKB", "id": "P14060", "url": "https://www.uniprot.org/uniprot/P14060" } ], "reference": [ { "type": "PubMed", "id": "1920284", "url": "https://glygen.org/publication/PubMed/1920284" } ] }, { "title": "Structure and expression of a new complementary DNA encoding the almost exclusive 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase in human adrenals and gonads.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "1991", "authors": "Rheaume E, Lachance Y, Zhao HF, Breton N, Dumont M, de Launoit Y, Trudel C, Luu-The V, Simard J, Labrie F", "evidence": [ { "database": "Reactome", "id": "R-HSA-193993", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193993" } ], "reference": [ { "type": "PubMed", "id": "1944309", "url": "https://glygen.org/publication/PubMed/1944309" } ] }, { "title": "Deletion of steroid 5 alpha-reductase 2 gene in male pseudohermaphroditism.", "journal": "Nature", "date": "1991", "authors": "Andersson S, Berman DM, Jenkins EP, Russell DW", "evidence": [ { "database": "Reactome", "id": "R-HSA-193048", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193048" } ], "reference": [ { "type": "PubMed", "id": "1944596", "url": "https://glygen.org/publication/PubMed/1944596" } ] }, { "title": "An overview on 5alpha-reductase inhibitors.", "journal": "Steroids", "date": "2010", "authors": "Aggarwal S, Thareja S, Verma A, Bhardwaj TR, Kumar M", "evidence": [ { "database": "Reactome", "id": "R-HSA-193048", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193048" } ], "reference": [ { "type": "PubMed", "id": "19879888", "url": "https://glygen.org/publication/PubMed/19879888" } ] }, { "title": "Therapeutic options in the treatment of benign prostatic hyperplasia.", "journal": "Patient preference and adherence", "date": "2009", "authors": "Sandhu JS", "evidence": [ { "database": "Reactome", "id": "R-HSA-193048", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193048" } ], "reference": [ { "type": "PubMed", "id": "19936164", "url": "https://glygen.org/publication/PubMed/19936164" } ] }, { "title": "Structural analysis of the gene encoding human 3 beta-hydroxysteroid dehydrogenase/delta 5-->4-isomerase.", "journal": "Mol. Endocrinol.", "date": "1990", "authors": "Lorence M C, Corbin C J, Kamimura N, Mahendroo M S, Mason J I", "evidence": [ { "database": "UniProtKB", "id": "P14060", "url": "https://www.uniprot.org/uniprot/P14060" } ], "reference": [ { "type": "PubMed", "id": "2082186", "url": "https://glygen.org/publication/PubMed/2082186" } ] }, { "title": "Human 3 beta-hydroxysteroid dehydrogenase/delta 5----4isomerase from placenta: expression in nonsteroidogenic cells of a protein that catalyzes the dehydrogenation/isomerization of C21 and C19 steroids.", "journal": "Endocrinology", "date": "1990-05", "authors": "Lorence M C, Murry B A, Trant J M, Mason J I", "evidence": [ { "database": "UniProtKB", "id": "P14060", "url": "https://www.uniprot.org/uniprot/P14060" } ], "reference": [ { "type": "PubMed", "id": "2139411", "url": "https://glygen.org/publication/PubMed/2139411" } ] }, { "title": "Purification, cloning, complementary DNA structure, and predicted amino acid sequence of human estradiol 17 beta-dehydrogenase.", "journal": "Annals of the New York Academy of Sciences", "date": "1990", "authors": "Luu-The V, Labrie C, Zhao HF, Couet J, Lachance Y, Simard J, Cote J, Leblanc G, Lagace L, Berube D, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-193048", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193048" } ], "reference": [ { "type": "PubMed", "id": "2197970", "url": "https://glygen.org/publication/PubMed/2197970" } ] }, { "title": "Characterization of human 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase gene and its expression in mammalian cells.", "journal": "J. Biol. Chem.", "date": "1990", "authors": "Lachance Y, Luu-The V, Labrie C, Simard J, Dumont M, de Launoit Y, Guerin S, Leblanc G, Labrie F", "evidence": [ { "database": "UniProtKB", "id": "P14060", "url": "https://www.uniprot.org/uniprot/P14060" }, { "database": "Reactome", "id": "R-HSA-193993", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193993" } ], "reference": [ { "type": "PubMed", "id": "2243100", "url": "https://glygen.org/publication/PubMed/2243100" } ] }, { "title": "Structural and biochemical properties of cloned and expressed human and rat steroid 5 alpha-reductases.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1990", "authors": "Andersson S, Russell DW", "evidence": [ { "database": "Reactome", "id": "R-HSA-193048", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193048" } ], "reference": [ { "type": "PubMed", "id": "2339109", "url": "https://glygen.org/publication/PubMed/2339109" } ] }, { "title": "[Mechanism of azelaic acid action in acne].", "journal": "Giornale italiano di dermatologia e venereologia : organo ufficiale, Societa italiana di dermatologia e sifilografia", "date": "1989", "authors": "Passi S, Picardo M, De Luca C, Nazzaro-Porro M", "evidence": [ { "database": "Reactome", "id": "R-HSA-193048", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193048" } ], "reference": [ { "type": "PubMed", "id": "2534550", "url": "https://glygen.org/publication/PubMed/2534550" } ] }, { "title": "Human type 3 5alpha-reductase is expressed in peripheral tissues at higher levels than types 1 and 2 and its activity is potently inhibited by finasteride and dutasteride.", "journal": "Hormone molecular biology and clinical investigation", "date": "2010", "authors": "Yamana K, Labrie F, Luu-The V", "evidence": [ { "database": "Reactome", "id": "R-HSA-193048", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193048" } ], "reference": [ { "type": "PubMed", "id": "25961201", "url": "https://glygen.org/publication/PubMed/25961201" } ] }, { "title": "Human placental 3 beta-hydroxy-5-ene-steroid dehydrogenase and steroid 5----4-ene-isomerase: purification from mitochondria and kinetic profiles, biophysical characterization of the purified mitochondrial and microsomal enzymes.", "journal": "Journal of steroid biochemistry", "date": "1989", "authors": "Thomas JL, Myers RP, Strickler RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-193993", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193993" } ], "reference": [ { "type": "PubMed", "id": "2770297", "url": "https://glygen.org/publication/PubMed/2770297" } ] }, { "title": "Full length cDNA structure and deduced amino acid sequence of human 3 beta-hydroxy-5-ene steroid dehydrogenase.", "journal": "Mol. Endocrinol.", "date": "1989", "authors": "Luu The V, Lachance Y, Labrie C, Leblanc G, Thomas J L, Strickler R C, Labrie F", "evidence": [ { "database": "UniProtKB", "id": "P14060", "url": "https://www.uniprot.org/uniprot/P14060" } ], "reference": [ { "type": "PubMed", "id": "2779585", "url": "https://glygen.org/publication/PubMed/2779585" } ] }, { "title": "Mineralocorticoid activity of liquorice: 11-beta-hydroxysteroid dehydrogenase deficiency comes of age.", "journal": "Lancet (London, England)", "date": "1987", "authors": "Stewart PM, Wallace AM, Valentino R, Burt D, Shackleton CH, Edwards CR", "evidence": [ { "database": "Reactome", "id": "R-HSA-194002", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-194002" } ], "reference": [ { "type": "PubMed", "id": "2889032", "url": "https://glygen.org/publication/PubMed/2889032" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "P14060", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P14060" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Molecular characterization of the HLA-linked steroid 21-hydroxylase B gene from an individual with congenital adrenal hyperplasia.", "journal": "The EMBO journal", "date": "1987", "authors": "Rodrigues NR, Dunham I, Yu CY, Carroll MC, Porter RR, Campbell RD", "evidence": [ { "database": "Reactome", "id": "R-HSA-194002", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-194002" } ], "reference": [ { "type": "PubMed", "id": "3038528", "url": "https://glygen.org/publication/PubMed/3038528" } ] }, { "title": "Inhibition of 5 alpha-reductase activity in human skin by zinc and azelaic acid.", "journal": "The British journal of dermatology", "date": "1988", "authors": "Stamatiadis D, Bulteau-Portois MC, Mowszowicz I", "evidence": [ { "database": "Reactome", "id": "R-HSA-193048", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193048" } ], "reference": [ { "type": "PubMed", "id": "3207614", "url": "https://glygen.org/publication/PubMed/3207614" } ] }, { "title": "Primary structure of human corticosteroid binding globulin, deduced from hepatic and pulmonary cDNAs, exhibits homology with serine protease inhibitors.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1987", "authors": "Hammond GL, Smith CL, Goping IS, Underhill DA, Harley MJ, Reventos J, Musto NA, Gunsalus GL, Bardin CW", "evidence": [ { "database": "Reactome", "id": "R-HSA-194002", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-194002" } ], "reference": [ { "type": "PubMed", "id": "3299377", "url": "https://glygen.org/publication/PubMed/3299377" } ] }, { "title": "Structure of human steroid 21-hydroxylase genes.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1986", "authors": "White PC, New MI, Dupont B", "evidence": [ { "database": "Reactome", "id": "R-HSA-194002", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-194002" } ], "reference": [ { "type": "PubMed", "id": "3487786", "url": "https://glygen.org/publication/PubMed/3487786" } ] }, { "title": "Association Between Adrenal-Restrictive HSD3B1 Inheritance and Hormone-Independent Subtypes of Endometrial and Breast Cancer.", "journal": "JNCI cancer spectrum", "date": "2022", "authors": "McManus JM, Vargas R, Bazeley PS, Schumacher FR, Sharifi N", "evidence": [ { "database": "RefSeq", "id": "NP_000853", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000853" } ], "reference": [ { "type": "PubMed", "id": "35947687", "url": "https://glygen.org/publication/PubMed/35947687" } ] }, { "title": "HSD3B1 Expression Is Upregulated by Interleukin 4 in HT-29 Colon Cancer Cells via Multiple Signaling Pathways.", "journal": "International journal of molecular sciences", "date": "2022-11-05", "authors": "Chen Hsin-Mei, Hung Pei-Yu, Chen Chih-Hung, Yu Yu-Jhen, Syu Ming-Shan, Hu Meng-Chun", "evidence": [ { "database": "RefSeq", "id": "NP_000853", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000853" } ], "reference": [ { "type": "PubMed", "id": "36362361", "url": "https://glygen.org/publication/PubMed/36362361" } ] }, { "title": "HSD3B1 is an oxysterol 3\u03b2-hydroxysteroid dehydrogenase in human placenta.", "journal": "Open biology", "date": "2023-05", "authors": "Dickson Alison, Yutuc Eylan, Thornton Catherine A, Dunford James E, Oppermann Udo, Wang Yuqin, Griffiths William J", "evidence": [ { "database": "RefSeq", "id": "NP_000853", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000853" } ], "reference": [ { "type": "PubMed", "id": "37132223", "url": "https://glygen.org/publication/PubMed/37132223" } ] }, { "title": "High carrier frequency of a nonsense p.Trp230* variant in HSD3B2 gene in Ossetians.", "journal": "Frontiers in endocrinology", "date": "2023", "authors": "Makretskaya Nina, Kalinchenko Natalia, Tebieva Inna, Ionova Sofya, Zinchenko Rena, Marakhonov Andrey, Tiulpakov Anatoly", "evidence": [ { "database": "RefSeq", "id": "NP_000853", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000853" } ], "reference": [ { "type": "PubMed", "id": "37274334", "url": "https://glygen.org/publication/PubMed/37274334" } ] }, { "title": "Azasteroids: structure-activity relationships for inhibition of 5 alpha-reductase and of androgen receptor binding.", "journal": "Journal of medicinal chemistry", "date": "1986", "authors": "Rasmusson GH, Reynolds GF, Steinberg NG, Walton E, Patel GF, Liang T, Cascieri MA, Cheung AH, Brooks JR, Berman C", "evidence": [ { "database": "Reactome", "id": "R-HSA-193048", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193048" } ], "reference": [ { "type": "PubMed", "id": "3783591", "url": "https://glygen.org/publication/PubMed/3783591" } ] }, { "title": "Intratumoral androgen biosynthesis associated with 3\u03b2-hydroxysteroid dehydrogenase 1 promotes resistance to radiotherapy in prostate cancer.", "journal": "The Journal of clinical investigation", "date": "2023-11-15", "authors": "Ganguly Shinjini, Lone Zaeem, Muskara Andrew, Imamura Jarrell, Hardaway Aimalie, Patel Mona, Berk Mike, Smile Timothy D, Davicioni Elai, Stephans Kevin L, Ciezki Jay, Weight Christopher J, Gupta Shilpa, Reddy Chandana A, Tendulkar Rahul D, Chakraborty Abhishek A, Klein Eric A, Sharifi Nima, Mian Omar Y", "evidence": [ { "database": "RefSeq", "id": "NP_000853", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000853" } ], "reference": [ { "type": "PubMed", "id": "37966114", "url": "https://glygen.org/publication/PubMed/37966114" } ] }, { "title": "Transport of steroid hormones: binding of 21 endogenous steroids to both testosterone-binding globulin and corticosteroid-binding globulin in human plasma.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "1981", "authors": "Dunn JF, Nisula BC, Rodbard D", "evidence": [ { "database": "Reactome", "id": "R-HSA-194002", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-194002" } ], "reference": [ { "type": "PubMed", "id": "7195404", "url": "https://glygen.org/publication/PubMed/7195404" } ] }, { "title": "Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3.", "journal": "Nature genetics", "date": "1994", "authors": "Geissler WM, Davis DL, Wu L, Bradshaw KD, Patel S, Mendonca BB, Elliston KO, Wilson JD, Russell DW, Andersson S", "evidence": [ { "database": "Reactome", "id": "R-HSA-193048", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193048" } ], "reference": [ { "type": "PubMed", "id": "8075637", "url": "https://glygen.org/publication/PubMed/8075637" } ] }, { "title": "Characteristics of human types 1, 2 and 3 17 beta-hydroxysteroid dehydrogenase activities: oxidation/reduction and inhibition.", "journal": "The Journal of steroid biochemistry and molecular biology", "date": "1995", "authors": "Luu-The V, Zhang Y, Poirier D, Labrie F", "evidence": [ { "database": "Reactome", "id": "R-HSA-193048", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193048" } ], "reference": [ { "type": "PubMed", "id": "8547185", "url": "https://glygen.org/publication/PubMed/8547185" } ] }, { "title": "Male pseudohermaphroditism resulting from a novel mutation in the human steroid 5 alpha-reductase type 2 gene (SRD5A2).", "journal": "Molecular pathology : MP", "date": "1997", "authors": "Anwar R, Gilbey SG, New JP, Markham AF", "evidence": [ { "database": "Reactome", "id": "R-HSA-193048", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193048" } ], "reference": [ { "type": "PubMed", "id": "9208814", "url": "https://glygen.org/publication/PubMed/9208814" } ] }, { "title": "A critical review of the origin and control of adrenal androgens.", "journal": "Bailliere's clinical obstetrics and gynaecology", "date": "1997", "authors": "McKenna TJ, Fearon U, Clarke D, Cunningham SK", "evidence": [ { "database": "Reactome", "id": "R-HSA-193048", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193048" } ], "reference": [ { "type": "PubMed", "id": "9536209", "url": "https://glygen.org/publication/PubMed/9536209" } ] }, { "title": "A model for the turnover of dihydrotestosterone in the presence of the irreversible 5 alpha-reductase inhibitors GI198745 and finasteride.", "journal": "Clinical pharmacology and therapeutics", "date": "1998", "authors": "Gisleskog PO, Hermann D, Hammarlund-Udenaes M, Karlsson MO", "evidence": [ { "database": "Reactome", "id": "R-HSA-193048", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193048" } ], "reference": [ { "type": "PubMed", "id": "9871428", "url": "https://glygen.org/publication/PubMed/9871428" } ] } ], "pathway": [ { "id": "hsa:3283", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:3283", "resource": "KEGG Pathway" }, { "id": "R-HSA-193048", "name": "Androgen biosynthesis", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193048", "resource": "Reactome", "description": "Androgen biosynthesis" }, { "id": "R-HSA-193993", "name": "Mineralocorticoid biosynthesis", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193993", "resource": "Reactome", "description": "Mineralocorticoid biosynthesis" }, { "id": "R-HSA-194002", "name": "Glucocorticoid biosynthesis", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-194002", "resource": "Reactome", "description": "Glucocorticoid biosynthesis" } ], "orthologs": [ { "uniprot_canonical_ac": "E9Q007-1", "protein_name": "Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 9", "gene_name": "Hsd3b9", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MPGWSCLVTGAGGFLGQRIVRMLVQEEELQEIRALFRTFGRKQEEELSKLQTKAKVTALKGDILDAQCLKRACQGMSAVIHTAAAIDPLGAASRQTILDVNLKGTQLLLDACVEANVPTFIYSSSVLVAGPNSYKEIILNAHEEEHHESTWSNPYPYSKKMAEKAVLAANGSILKNGGTLHTCALRLSFIYGEECQVTSTTVKTALKNNSIIKKDATFSIANPVYVGNAAWAHILAARSLQDPKKSPSIQGQFYYITDDTPHQSYDDLKCTLSKEWGLRLDTSWSLPLPLLYWLAFLLETVSFLLRPVYNYRPPFNRLLITVLNSVFTFSYKKAQRDLGYEPLVSWEEAKQKTSEWIGTLVMQHREIGNKKSQ", "length": 373 }, "evidence": [ { "id": "45919840", "url": "http://www.informatics.jax.org/homology/45919840", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "O35469-1", "protein_name": "3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 6", "gene_name": "Hsd3b6", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MPGWSCLVTGAGGFLGQRIVQLLMQEKDLEEIRVLDKFFRPETREQFFNLDTNIKVTVLEGDILDTQYLRKACQGISVVIHTAAVIDVTGVIPRQTILDVNLKGTQNLLEACIQASVPAFIFSSSVDVAGPNSYKEIILNGNEEEHHESIWSDPYPYSKKMAEKAVLAANGSMLKIGGTLHTCALRPMYIYGERSPFISNTIITALKNKNILGCTGKFSTANPVYVGNVAWAHILAARGLRDPKKSPNIQGEFYYISDDTPHQSYDDLNYTLSKEWGFCPDSSWSLPVPLLYWLAFMLETVSFLLSPIYRFIPPFNRHLVTLTGSTFTFSYKKAQRDLGYEPLVSWEEAKQKTSEWIGTLVEQHRETLDTKSQ", "length": 373 }, "evidence": [ { "id": "45919842", "url": "http://www.informatics.jax.org/homology/45919842", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "P22071-1", "protein_name": "3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1", "gene_name": "Hsd3b1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MPGWSCLVTGAGGFVGQRIIRMLVQEKELQEVRALDKVFRPETKEEFSKLQTKAKVTMLEGDILDAQYLRRACQGISVVIHTAAVIDVSHVLPRQTILDVNLKGTQNILEACVEASVPAFIYCSTVDVAGPNSYKKIILNGHEEEHHESTWSDAYPYSKRMAEKAVLAANGSILKNGGTLHTCALRPMYIYGERSPFLSVMILAALKNKGILNVTGKFSIANPVYVGNVAWAHILAARGLRDPKKSQNVQGQFYYISDDTPHQSYDDLNCTLSKEWGLRLDSSWSLPLPLLYWLAFLLETVSFLLRPFYNYRPPFNCHLVTLSNSKFTFSYKKAQRDLGYVPLVSWEEAKQKTSEWIGTLVEQHRETLDTKSQ", "length": 373 }, "evidence": [ { "id": "45919841", "url": "http://www.informatics.jax.org/homology/45919841", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P22072-1", "protein_name": "3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2", "gene_name": "Hsd3b", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MPGWSCLVTGAGGFVGQRIIRMLVQEKELQEVRALDKVFRPETKEEFSKLQTKAKVTMLEGDILDAQYLRRACQGISVVIHTASVMDFSRVLPRQTILDVNLKGTQNLLEAGIHASVPAFIYCSTVDVAGPNSYKKTILNGREEEHHESTWSNPYPYSKKMAEKAVLAANGSILKNGGTLHTCALRPMYIYGERGQFLSRIIIMALKNKGVLNVTGKFSIVNPVYVGNVAWAHILAARGLRDPKKSQNIQGQFYYISDDTPHQSYDDLNCTLSKEWGLRLDSSWSLPLPLLYWLAFLLETVSFLLRPFYNYRPPFNCHLVTLSNSKFTFSYKKAQRDLGYEPLVSWEEAKQKTSEWIGTLVEQHRETLDTKSQ", "length": 373 }, "evidence": [ { "id": "45919841", "url": "http://www.informatics.jax.org/homology/45919841", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P24815-1", "protein_name": "3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1", "gene_name": "Hsd3b1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MAGWSCLVTGAGGFVGQRIIKMLVQEKELQEVRALDKVFRPETKEEFSKLQTKTKVTVLEGDILDAQCLRRACQGISVVIHTAAVIDVTGVIPRQTILDVNLKGTQNLLEACVQASVPAFIFCSSVDVAGPNSYKKIVLNGHEEQNHESTWSDPYPYSKKMAEKAVLAANGSMLKNGGTLNTCALRPMYIYGERSPFIFNAIIRALKNKGILCVTGKFSIANPVYVENVAWAHILAARGLRDPKKSTSIQGQFYYISDDTPHQSYDDLNYTLSKEWGLRPNASWSLPLPLLYWLAFLLETVSFLLRPVYRYRPLFNRHLITLSNSTFTFSYKKAQRDLGYEPLVNWEEAKQKTSEWIGTIVEQHREILDTKCQ", "length": 373 }, "evidence": [ { "id": "45919841", "url": "http://www.informatics.jax.org/homology/45919841", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "P26149-1", "protein_name": "3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2", "gene_name": "Hsd3b2", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MPGWSCLVTGAGGFLGQRIIQLLVQEEDLEEIRVLDKVFRPETRKEFFNLETSIKVTVLEGDILDTQYLRRACQGISVVIHTAAIIDVTGVIPRQTILDVNLKGTQNLLEACIQASVPAFIFSSSVDVAGPNSYKEIVLNGHEEECHESTWSDPYPYSKKMAEKAVLAANGSMLKNGGTLQTCALRPMCIYGERSPLISNIIIMALKHKGILRSFGKFNTANPVYVGNVAWAHILAARGLRDPKKSPNIQGEFYYISDDTPHQSFDDISYTLSKEWGFCLDSSWSLPVPLLYWLAFLLETVSFLLSPIYRYIPPFNRHLVTLSGSTFTFSYKKAQRDLGYEPLVSWEEAKQKTSEWIGTLVEQHRETLDTKSQ", "length": 373 }, "evidence": [ { "id": "45919843", "url": "http://www.informatics.jax.org/homology/45919843", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "P26150-1", "protein_name": "3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 3", "gene_name": "Hsd3b3", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MPGWSCLVTGAGGFLGQRIIQLLVQEKDLEEIRVLDKVFKPETREQFFNLGTSIKVTVLEGDILDTQYLRRACQGISVVIHTAAIIDVTGVIPRQTILDVNLKGTQNLLEACIQASVPAFIFSSSVDVAGPNSYKDIVLNGHEDEHRESTWSDPYPYSKKMAEKAVLAANGSMLKNGGTLQTCALRPMCIYGERSQFLSNTIIKALKNKFILRGGGKFSTANPVYVGNVAWAHILAARGLRNPKKSPNIQGEFYYISDDTPHQSYDDLNYTLSKEWGFCLNSRWYLPVPILYWLAFLLETVSFLLSPIYRYIPPFNRHLVTLTASTFTFSYKKAQRDLGYEPLVSWEEAKQKTSEWIGTLVEQHRETLDTKSQ", "length": 373 }, "evidence": [ { "id": "45919845", "url": "http://www.informatics.jax.org/homology/45919845", "database": "MGI" }, { "id": "P14060", "url": "https://omabrowser.org/oma/group/P14060/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "P26439-1", "protein_name": "3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2", "gene_name": "HSD3B2", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MGWSCLVTGAGGLLGQRIVRLLVEEKELKEIRALDKAFRPELREEFSKLQNRTKLTVLEGDILDEPFLKRACQDVSVVIHTACIIDVFGVTHRESIMNVNVKGTQLLLEACVQASVPVFIYTSSIEVAGPNSYKEIIQNGHEEEPLENTWPTPYPYSKKLAEKAVLAANGWNLKNGDTLYTCALRPTYIYGEGGPFLSASINEALNNNGILSSVGKFSTVNPVYVGNVAWAHILALRALRDPKKAPSVRGQFYYISDDTPHQSYDNLNYILSKEFGLRLDSRWSLPLTLMYWIGFLLEVVSFLLSPIYSYQPPFNRHTVTLSNSVFTFSYKKAQRDLAYKPLYSWEEAKQKTVEWVGSLVDRHKETLKSKTQ", "length": 372 }, "evidence": [ { "id": "45919839", "url": "http://www.informatics.jax.org/homology/45919839", "database": "MGI" }, { "id": "45919840", "url": "http://www.informatics.jax.org/homology/45919840", "database": "MGI" }, { "id": "45919841", "url": "http://www.informatics.jax.org/homology/45919841", "database": "MGI" }, { "id": "45919842", "url": "http://www.informatics.jax.org/homology/45919842", "database": "MGI" }, { "id": "45919843", "url": "http://www.informatics.jax.org/homology/45919843", "database": "MGI" }, { "id": "45919844", "url": "http://www.informatics.jax.org/homology/45919844", "database": "MGI" }, { "id": "45919845", "url": "http://www.informatics.jax.org/homology/45919845", "database": "MGI" }, { "id": "45919846", "url": "http://www.informatics.jax.org/homology/45919846", "database": "MGI" } ], "common_name": "Human" }, { "uniprot_canonical_ac": "P27364-1", "protein_name": "NADPH-dependent 3-keto-steroid reductase Hsd3b5", "gene_name": "Hsd3b5", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MPGWSCLVTGAGGFLGQRIVQMLVQEKELQEVRVLYRTFSPKHKEELSKLQTKAKVTVLRGDIVDAQFLRRACQGMSVIIHTAAALDIAGFLPRQTILDVNVKGTQLLLDACVEASVPAFIYSSSTGVAGPNSYKETILNDREEEHRESTWSNPYPYSKRMAEKAVLAANGSILKNGGTFHTCALRLPFIYGEESQIISTMVNRALKNNSIIKRHATFSIANPVYVGNAAWAHILAARGLRDPEKSQSIQGQFYYISDDTPHQSYDDLNYTLSKEWGFCLDSSWSLPLPLLYWLAFLLETVSFLLRPFYNYRPPFNRFMVTILNSVFTISYKKAQRDLGYEPLVSWEEAKQKTSEWIGTLVEQHRETLDTKSQ", "length": 373 }, "evidence": [ { "id": "45919839", "url": "http://www.informatics.jax.org/homology/45919839", "database": "MGI" }, { "id": "45919840", "url": "http://www.informatics.jax.org/homology/45919840", "database": "MGI" }, { "id": "45919844", "url": "http://www.informatics.jax.org/homology/45919844", "database": "MGI" }, { "id": "45919846", "url": "http://www.informatics.jax.org/homology/45919846", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q61694-1", "protein_name": "NADPH-dependent 3-keto-steroid reductase Hsd3b5", "gene_name": "Hsd3b5", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MPGWSCLVTGAGGFLGQRIVRMLVQEEELQEIRALFRTFGRKHEEELSKLQTKAKVRVLKGDILDAQCLKRACQGMSAVIHTAAAIDPLGAASRQTILDVNLKGTQLLLDACVEASVPTFIYSSSVLVAGPNSYKEIILNAHEEEHRESTWPNPYPYSKRMAEKAVLATNGRLLKNGGTLHTCALRLPFIYGEECQVTSTTVKTALKNNSIIKKNATFSIANPVYVGNAAWAHILAARSLQDPKKSPSIQGQFYYISDNTPHQSYDDLNYTLSKEWGLCLDSGWSLPLSLLYWLAFLLETVSFLLRPVYNYRPPFNRLLITVLNSVFTISYKKAQRDLGYQPLVSWEEAKQKTSEWIGTLVKQHRETLHKKSQ", "length": 373 }, "evidence": [ { "id": "45919846", "url": "http://www.informatics.jax.org/homology/45919846", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q61767-1", "protein_name": "NADPH-dependent 3-keto-steroid reductase Hsd3b4", "gene_name": "Hsd3b4", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MPGWSCLVTGAGGFLGQRIVRMLVQEEELQEIRALFRTFGRKQEEELSKLQTKTKVTVLKGDILDAQCLKRACQGMSAVIHTAAAIDPLGAASRQTILDVNLKGTQLLLDACVEANVPTFIYSSSVLVAGPNSYKEIILNAHEEEHHESTWSNPYPYSKKMAEKAVLAANGSILKNGGTLHTCALRLSFIYGEECQVTSTTVKTALKNNSIIKKNATFSIANPVYVGNAAWAHILAARSLQDPKKSPSIQGQFYYITDDTPHQSYDDLKCTLSKEWGLRLDTSWSLPLPLLYWLAFLLETVSFLLRPVYNYRPPFNRLLITVLNSVFTFSYKKAQRDLGYEPLVSWEEAKQKTSEWIGTLVMQHREIGNKKSQ", "length": 373 }, "evidence": [ { "id": "45919839", "url": "http://www.informatics.jax.org/homology/45919839", "database": "MGI" }, { "id": "45919844", "url": "http://www.informatics.jax.org/homology/45919844", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q62878-1", "protein_name": "3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 4", "gene_name": "Hsd3b6", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MPGWSCLVTGAGGFLGQRIVQLLVQEKDLKEVRVLDKVFRPETREEFFNLGTSIKVTVLEGDILDTQCLRRACQGISVVIHTAALIDVTGVNPRQTILDVNLKGTQNLLEACVQASVPAFIYCSTVDVAGPNSYKKIILNGHEEEHHESTWSNPYPYSKKMAEKAVLAANGSILKNGGTLHTCALRPMYIYGERSPFLSVMILAALKSKGILNVTGKFSIANPVYVGNVAWAHILAARGLRDPKKSQNVQGQFYYISDDTPHQSYDDLNYTLSKEWGLHLDSSWSLPLPLLYWLAFLLEIVSFFLHPVYNYRPSFNRHLVTLSNSKFTFSYKKAQRDLGYKPLVSWEEAKQKTSEWIGTLVEQHRETLDTKSQ", "length": 373 }, "evidence": [ { "id": "45919842", "url": "http://www.informatics.jax.org/homology/45919842", "database": "MGI" }, { "id": "45919843", "url": "http://www.informatics.jax.org/homology/45919843", "database": "MGI" }, { "id": "45919845", "url": "http://www.informatics.jax.org/homology/45919845", "database": "MGI" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 6, "go_terms": [ { "name": "3-beta-hydroxy-delta5-steroid dehydrogenase activity", "id": "GO:0003854", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003854", "evidence": [ { "database": "UniProtKB", "id": "P14060", "url": "https://www.uniprot.org/uniprot/P14060" } ], "pmid": "" }, { "name": "steroid delta-isomerase activity", "id": "GO:0004769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004769", "evidence": [ { "database": "UniProtKB", "id": "P14060", "url": "https://www.uniprot.org/uniprot/P14060" } ], "pmid": "" }, { "name": "cholesterol dehydrogenase activity", "id": "GO:0102294", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0102294", "evidence": [ { "database": "UniProtKB", "id": "P14060", "url": "https://www.uniprot.org/uniprot/P14060" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor", "id": "GO:0016616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016616", "evidence": [ { "database": "UniProtKB", "id": "P14060", "url": "https://www.uniprot.org/uniprot/P14060" } ], "pmid": "" }, { "name": "3-keto sterol reductase activity", "id": "GO:0000253", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000253", "evidence": [ { "database": "UniProtKB", "id": "P14060", "url": "https://www.uniprot.org/uniprot/P14060" } ], "pmid": "" }, { "name": "5alpha-androstane-3beta,17beta-diol dehydrogenase activity", "id": "GO:0047024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047024", "evidence": [ { "database": "UniProtKB", "id": "P14060", "url": "https://www.uniprot.org/uniprot/P14060" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 6, "go_terms": [ { "name": "steroid biosynthetic process", "id": "GO:0006694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006694", "evidence": [ { "database": "UniProtKB", "id": "P14060", "url": "https://www.uniprot.org/uniprot/P14060" } ], "pmid": "" }, { "name": "hippocampus development", "id": "GO:0021766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021766", "evidence": [ { "database": "UniProtKB", "id": "P14060", "url": "https://www.uniprot.org/uniprot/P14060" } ], "pmid": "" }, { "name": "androgen biosynthetic process", "id": "GO:0006702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006702", "evidence": [ { "database": "UniProtKB", "id": "P14060", "url": "https://www.uniprot.org/uniprot/P14060" } ], "pmid": "" }, { "name": "estrogen biosynthetic process", "id": "GO:0006703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006703", "evidence": [ { "database": "UniProtKB", "id": "P14060", "url": "https://www.uniprot.org/uniprot/P14060" } ], "pmid": "" }, { "name": "C21-steroid hormone metabolic process", "id": "GO:0008207", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008207", "evidence": [ { "database": "UniProtKB", "id": "P14060", "url": "https://www.uniprot.org/uniprot/P14060" } ], "pmid": "" }, { "name": "response to corticosterone", "id": "GO:0051412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051412", "evidence": [ { "database": "UniProtKB", "id": "P14060", "url": "https://www.uniprot.org/uniprot/P14060" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 9, "go_terms": [ { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "P14060", "url": "https://www.uniprot.org/uniprot/P14060" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P14060", "url": "https://www.uniprot.org/uniprot/P14060" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "P14060", "url": "https://www.uniprot.org/uniprot/P14060" } ], "pmid": "" }, { "name": "mitochondrial intermembrane space", "id": "GO:0005758", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005758", "evidence": [ { "database": "UniProtKB", "id": "P14060", "url": "https://www.uniprot.org/uniprot/P14060" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P14060", "url": "https://www.uniprot.org/uniprot/P14060" } ], "pmid": "" }, { "name": "intracellular membrane-bounded organelle", "id": "GO:0043231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043231", "evidence": [ { "database": "UniProtKB", "id": "P14060", "url": "https://www.uniprot.org/uniprot/P14060" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "P14060", "url": "https://www.uniprot.org/uniprot/P14060" } ], "pmid": "" }, { "name": "intercellular bridge", "id": "GO:0045171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045171", "evidence": [ { "database": "UniProtKB", "id": "P14060", "url": "https://www.uniprot.org/uniprot/P14060" } ], "pmid": "" }, { "name": "smooth endoplasmic reticulum membrane", "id": "GO:0030868", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030868", "evidence": [ { "database": "UniProtKB", "id": "P14060", "url": "https://www.uniprot.org/uniprot/P14060" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 269, "end_pos": 271, "annotation": "n_glycosylation_sequon" }, { "start_pos": 52, "end_pos": 54, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "14709", "name": "", "equation": "a 3-oxo-Delta(5)-steroid = a 3-oxo-Delta(4)-steroid", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P22072-1", "P22071-1", "Q62878-1", "P14060-1", "P26439-1", "P24815-1", "O35469-1", "P26150-1", "P26149-1" ], "evidence": [ { "id": "14709", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/14709" } ] }, { "id": "16297", "name": "", "equation": "5alpha-androstane-3beta,17beta-diol + NADP(+) = 17beta-hydroxy-5alpha-androstan-3-one + H(+) + NADPH", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P22071-1", "P27364-1", "Q62904-1", "P14060-1", "P17516-1", "Q04828-1", "P42330-1", "P56937-1", "P24815-1", "Q61694-1", "Q61767-1", "O88736-1" ], "evidence": [ { "id": "16297", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/16297" } ] }, { "id": "24076", "name": "", "equation": "a 3beta-hydroxy-Delta(5)-steroid + NAD(+) = a 3-oxo-Delta(5)-steroid + H(+) + NADH", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P22072-1", "P22071-1", "Q62878-1", "P14060-1", "P26439-1", "P24815-1", "O35469-1", "P26150-1", "P26149-1" ], "evidence": [ { "id": "24076", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/24076" } ] }, { "id": "34787", "name": "", "equation": "a 3beta-hydroxysteroid + NADP(+) = a 3-oxosteroid + H(+) + NADPH", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P22071-1", "P27364-1", "Q62904-1", "P14060-1", "Q6UWP2-1", "P56937-1", "P24815-1", "Q61694-1", "Q61767-1", "O88736-1", "Q3U0B3-1" ], "evidence": [ { "id": "34787", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/34787" } ] }, { "id": "42184", "name": "", "equation": "5alpha-androstane-3beta,17beta-diol + NAD(+) = 17beta-hydroxy-5alpha-androstan-3-one + H(+) + NADH", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P22071-1", "O54753-1", "P14060-1", "O14756-1", "P24815-1", "Q9R092-1" ], "evidence": [ { "id": "42184", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/42184" } ] }, { "id": "43924", "name": "", "equation": "NAD(+) + pregnenolone = H(+) + NADH + pregn-5-ene-3,20-dione", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P22071-1", "P14060-1", "P26439-1", "P24815-1", "P26149-1" ], "evidence": [ { "id": "43924", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/43924" } ] }, { "id": "43928", "name": "", "equation": "pregn-5-ene-3,20-dione = progesterone", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P22071-1", "P04904-1", "P14060-1", "P26439-1", "Q16772-1", "P24815-1", "P30115-1", "P26149-1" ], "evidence": [ { "id": "43928", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/43928" } ] }, { "id": "43932", "name": "", "equation": "3beta-hydroxyandrost-5-en-17-one + NAD(+) = androst-5-ene-3,17-dione + H(+) + NADH", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P22071-1", "P14060-1", "P26439-1", "P24815-1", "P26149-1" ], "evidence": [ { "id": "43932", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/43932" } ] }, { "id": "43936", "name": "", "equation": "androst-5-ene-3,17-dione = androst-4-ene-3,17-dione", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P22071-1", "P00502-1", "P04904-1", "P14060-1", "P08263-1", "P26439-1", "Q16772-1", "P24815-1", "P13745-1", "P30115-1", "P26149-1" ], "evidence": [ { "id": "43936", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/43936" } ] }, { "id": "56916", "name": "", "equation": "3beta-hydroxy-5alpha-androstan-17-one + NADP(+) = 5alpha-androstan-3,17-dione + H(+) + NADPH", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P22071-1", "P27364-1", "P14060-1", "P24815-1" ], "evidence": [ { "id": "56916", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/56916" } ] }, { "id": "56932", "name": "", "equation": "androst-5-en-3beta,17beta-diol + NAD(+) = 17beta-hydroxy-androst-5-en-3-one + H(+) + NADH", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P22071-1", "P14060-1", "P24815-1" ], "evidence": [ { "id": "56932", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/56932" } ] }, { "id": "56936", "name": "", "equation": "17beta-hydroxy-androst-5-en-3-one = testosterone", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P22071-1", "P14060-1", "P24815-1" ], "evidence": [ { "id": "56936", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/56936" } ] }, { "id": "R-HSA-193052", "name": "Pregn-5-ene-3,20-dione isomerizes to progesterone", "equation": "", "summary": "Pregn-5-ene-3,20-dione isomerizes to progesterone. This reaction is catalyzed by the isomerase activity of 3 beta-HSD, associated with the endoplasmic reticulum membrane. The active form of the enzyme is a homodimer. The enzyme occurs in two isoforms that are similar in their biochemical properties but differ in their tissue expression: type I (HSD3B1) is found in placenta and skin, while type II (HSD3B2) is found in the adrenal glands and gonads.
The hormone lutropin (LH) triggers ovulation and development of the corpus luteum, that in turn increases production of progesterone.", "cellular_location": "cytosol, endoplasmic reticulum membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P14060-1" ], "evidence": [ { "id": "R-HSA-193052", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193052" } ] }, { "id": "R-HSA-193073", "name": "HSD2B1 dimer, HSD3B2 dimer isomerise DHA to ANDST", "equation": "", "summary": "In this two-step reaction catalyzed by 3beta-HSD associated with the endoplasmic reticulum membrane, the 3-hydroxyl group of DHA is oxidized to a keto group and the double bond in the steroid nucleus is then isomerized from the five to the 4 position. Corticotropin (Adrenocorticotropic hormone, ACTH) acts through the ACTH receptor called melanocortin receptor type 2 (MC2R) to stimulate steroidogenesis, increasing the production of androgens (McKenna et al, 1997).", "cellular_location": "cytosol, endoplasmic reticulum membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P14060-1" ], "evidence": [ { "id": "R-HSA-193073", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193073" } ] }, { "id": "R-HSA-193961", "name": "Pregn-5-ene-3,20-dione-17-ol isomerizes to 17-hydroxyprogesterone", "equation": "", "summary": "Pregn-5-ene-3,20-dione-17-ol isomerizes to 17-hydroxyprogesterone. This reaction is catalyzed by the isomerase activity of 3 beta-HSD, associated with the endoplasmic reticulum membrane. The active form of the enzyme is a homodimer. The enzyme occurs in two isoforms that are similar in their biochemical properties but differ in their tissue expression: type I (HSD3B1) is found in placenta and skin, while type II (HSD3B2) is found in the adrenal glands and gonads.", "cellular_location": "cytosol, endoplasmic reticulum membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P14060-1" ], "evidence": [ { "id": "R-HSA-193961", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193961" } ] }, { "id": "R-HSA-196350", "name": "Pregnenolone is dehydrogenated to form pregn-5-ene-3,20-dione", "equation": "", "summary": "Pregnenolone and NAD+ react to form pregn-5-ene-3,20-dione and NADH + H+. This reaction is catalyzed by the 3 beta-hydroxysteroid activity of 3-beta-hydroxysteroid dehydrogenase/isomerase (HSD3B) enzyme associated with the endoplasmic reticulum membrane. The active form of the enzyme is a homodimer. The enzyme occurs in two isoforms that are similar in their biochemical properties but differ in their tissue expression: type I (HSD3B1) is found in placenta and skin, while type II (HSD3B2) is found in the adrenal glands and gonads.", "cellular_location": "cytosol, endoplasmic reticulum membrane", "input_participant_list": [], "output_participant_list": [ "R-ALL-196344" ], "enzyme_list": [ "P14060-1" ], "evidence": [ { "id": "R-HSA-196350", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196350" } ] }, { "id": "R-HSA-196372", "name": "17-Hydroxypregnenolone is dehydrogenated to form pregn-5-ene-3,20-dione-17-ol", "equation": "", "summary": "17-Hydroxypregnenolone and NAD+ react to form pregn-5-ene-3,20-dione-17-ol and NADH + H+. This reaction is catalyzed by the 3 beta-hydroxysteroid activity of 3-beta-hydroxysteroid dehydrogenase/isomerase (HSD3B) enzyme associated with the endoplasmic reticulum membrane. The active form of the enzyme is a homodimer. The enzyme occurs in two isoforms that are similar in their biochemical properties but differ in their tissue expression: type I (HSD3B1) is found in placenta and skin, while type II (HSD3B2) is found in the adrenal glands and gonads.", "cellular_location": "cytosol, endoplasmic reticulum membrane", "input_participant_list": [ "R-ALL-193124" ], "output_participant_list": [ "R-ALL-196366" ], "enzyme_list": [ "P14060-1" ], "evidence": [ { "id": "R-HSA-196372", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196372" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-193124", "participant_name": "17aHPREG [cytosol]", "crossref": [ { "id": "C05138", "database": "COMPOUND", "url": "" }, { "id": "28750", "database": "ChEBI", "url": "" }, { "id": "5103", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "HMDB0000363", "database": "HMDB Metabolite", "url": "" }, { "id": "000004096634", "database": "ZINC", "url": "" }, { "id": "C05138", "database": "COMPOUND", "url": "" }, { "id": "28750", "database": "ChEBI", "url": "" }, { "id": "5103", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "HMDB0000363", "database": "HMDB Metabolite", "url": "" }, { "id": "000004096634", "database": "ZINC", "url": "" }, { "id": "C05138", "database": "COMPOUND", "url": "" }, { "id": "28750", "database": "ChEBI", "url": "" }, { "id": "5103", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "HMDB0000363", "database": "HMDB Metabolite", "url": "" }, { "id": "000004096634", "database": "ZINC", "url": "" }, { "id": "C05138", "database": "COMPOUND", "url": "" }, { "id": "28750", "database": "ChEBI", "url": "" }, { "id": "5103", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "HMDB0000363", "database": "HMDB Metabolite", "url": "" }, { "id": "000004096634", "database": "ZINC", "url": "" } ] }, { "participant_id": "R-ALL-196344", "participant_name": "pregn-5-ene-3,20-dione [cytosol]", "crossref": [ { "id": "63837", "database": "ChEBI", "url": "" }, { "id": "000096085295", "database": "ZINC", "url": "" }, { "id": "HMDB0062521", "database": "HMDB Metabolite", "url": "" }, { "id": "000096085295", "database": "ZINC", "url": "" }, { "id": "63837", "database": "ChEBI", "url": "" }, { "id": "HMDB0062521", "database": "HMDB Metabolite", "url": "" }, { "id": "000096085295", "database": "ZINC", "url": "" }, { "id": "HMDB0062521", "database": "HMDB Metabolite", "url": "" }, { "id": "63837", "database": "ChEBI", "url": "" }, { "id": "63837", "database": "ChEBI", "url": "" }, { "id": "000096085295", "database": "ZINC", "url": "" }, { "id": "HMDB0062521", "database": "HMDB Metabolite", "url": "" } ] }, { "participant_id": "R-ALL-196366", "participant_name": "pregn-5-ene-3,20-dione-17-ol [cytosol]", "crossref": [ { "id": "63843", "database": "ChEBI", "url": "" }, { "id": "000096085296", "database": "ZINC", "url": "" }, { "id": "HMDB0062522", "database": "HMDB Metabolite", "url": "" }, { "id": "000096085296", "database": "ZINC", "url": "" }, { "id": "63843", "database": "ChEBI", "url": "" }, { "id": "HMDB0062522", "database": "HMDB Metabolite", "url": "" }, { "id": "HMDB0062522", "database": "HMDB Metabolite", "url": "" }, { "id": "63843", "database": "ChEBI", "url": "" }, { "id": "000096085296", "database": "ZINC", "url": "" }, { "id": "63843", "database": "ChEBI", "url": "" }, { "id": "000096085296", "database": "ZINC", "url": "" }, { "id": "HMDB0062522", "database": "HMDB Metabolite", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "O14756", "gene_name": "HSD17B6", "activity": [ { "ec_number": "1.1.1.62", "activity": "17beta-estradiol + NAD(+) = estrone + H(+) + NADH.", "evidence": [ { "id": "O14756", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14756" } ] }, { "ec_number": "1.1.1.239", "activity": "NAD(+) + testosterone = androst-4-ene-3,17-dione + H(+) + NADH.", "evidence": [ { "id": "O14756", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14756" } ] }, { "ec_number": "1.1.1.105", "activity": "all-trans-retinol + NAD(+) = all-trans-retinal + H(+) + NADH.", "evidence": [ { "id": "O14756", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14756" } ] }, { "ec_number": "1.1.1.209", "activity": "androsterone + NADP(+) = 5alpha-androstan-3,17-dione + H(+) + NADPH.", "evidence": [ { "id": "O14756", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14756" } ] }, { "ec_number": "1.1.1.53", "activity": "5alpha-androstane-3alpha,17beta-diol + NAD(+) = 17beta-hydroxy-5alpha-androstan-3-one + H(+) + NADH.", "evidence": [ { "id": "O14756", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14756" } ] }, { "ec_number": "1.1.1.62", "activity": "", "evidence": [ { "id": "O14756", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14756" } ] }, { "ec_number": "1.1.1.105", "activity": "", "evidence": [ { "id": "O14756", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14756" } ] }, { "ec_number": "1.1.1.53", "activity": "", "evidence": [ { "id": "O14756", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14756" } ] }, { "ec_number": "1.1.1.209", "activity": "", "evidence": [ { "id": "O14756", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14756" } ] }, { "ec_number": "1.1.1.239", "activity": "", "evidence": [ { "id": "O14756", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14756" } ] } ] }, { "uniprot_ac": "O35469", "gene_name": "Hsd3b6", "activity": [ { "ec_number": "5.3.3.1", "activity": "a 3-oxo-Delta(5)-steroid = a 3-oxo-Delta(4)-steroid.", "evidence": [ { "id": "O35469", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O35469" } ] }, { "ec_number": "1.1.1.145", "activity": "3beta-hydroxyandrost-5-en-17-one + NAD(+) = androst-5-ene-3,17-dione + H(+) + NADH.", "evidence": [ { "id": "O35469", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O35469" } ] }, { "ec_number": "1.1.1.-", "activity": "", "evidence": [ { "id": "O35469", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O35469" } ] } ] }, { "uniprot_ac": "O54753", "gene_name": "Hsd17b6", "activity": [ { "ec_number": "1.1.1.62", "activity": "17beta-estradiol + NAD(+) = estrone + H(+) + NADH.", "evidence": [ { "id": "O54753", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O54753" } ] }, { "ec_number": "1.1.1.239", "activity": "NAD(+) + testosterone = androst-4-ene-3,17-dione + H(+) + 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": "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": "P00502", "gene_name": "Gsta1", "activity": [ { "ec_number": "1.11.1.-", "activity": "", "evidence": [ { "id": "P00502", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00502" } ] }, { "ec_number": "5.3.3.-", "activity": "", "evidence": [ { "id": "P00502", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00502" } ] }, { "ec_number": "2.5.1.18", "activity": "glutathione + RX = a halide anion + an S-substituted glutathione + H(+).", "evidence": [ { "id": "P00502", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00502" } ] }, { "ec_number": "2.5.1.18", "activity": "", "evidence": [ { "id": "P00502", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00502" } ] } ] }, { "uniprot_ac": "P04904", "gene_name": "Gsta3", "activity": [ { "ec_number": "2.5.1.18", "activity": "glutathione + RX = a halide anion + an S-substituted glutathione + H(+).", "evidence": [ { "id": "P04904", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04904" } ] }, { "ec_number": "2.5.1.18", "activity": "", "evidence": [ { "id": "P04904", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04904" } ] } ] }, { "uniprot_ac": "P08263", "gene_name": "GSTA1", "activity": [ { "ec_number": "1.11.1.-", "activity": "", "evidence": [ { "id": "P08263", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08263" } ] }, { "ec_number": "5.3.3.-", "activity": "", "evidence": [ { "id": "P08263", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08263" } ] }, { "ec_number": "2.5.1.18", "activity": "glutathione + RX = a halide anion + an S-substituted glutathione + H(+).", "evidence": [ { "id": "P08263", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08263" } ] }, { "ec_number": "2.5.1.18", "activity": "", "evidence": [ { "id": "P08263", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08263" } ] } ] }, { "uniprot_ac": "P13745", "gene_name": "Gsta1", "activity": [ { "ec_number": "1.11.1.-", "activity": "", "evidence": [ { "id": "P13745", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13745" } ] }, { "ec_number": "5.3.3.-", "activity": "", "evidence": [ { "id": "P13745", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13745" } ] }, { "ec_number": "2.5.1.18", "activity": "glutathione + RX = a halide anion + an S-substituted glutathione + H(+).", "evidence": [ { "id": "P13745", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13745" } ] }, { "ec_number": "2.5.1.18", "activity": "", "evidence": [ { "id": "P13745", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13745" } ] } ] }, { "uniprot_ac": "P14060", "gene_name": "HSD3B1", "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": "P14060", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14060" } ] }, { "ec_number": "1.1.1.145", "activity": "3beta-hydroxyandrost-5-en-17-one + NAD(+) = androst-5-ene-3,17-dione + H(+) + NADH.", "evidence": [ { "id": "P14060", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14060" } ] }, { "ec_number": "5.3.3.1", "activity": "a 3-oxo-Delta(5)-steroid = a 3-oxo-Delta(4)-steroid.", "evidence": [ { "id": "P14060", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14060" } ] }, { "ec_number": "1.1.1.210", "activity": "5alpha-androstane-3beta,17beta-diol + NADP(+) = 17beta-hydroxy-5alpha-androstan-3-one + H(+) + NADPH.", "evidence": [ { "id": "P14060", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14060" } ] } ] }, { "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": "P22071", "gene_name": "Hsd3b1", "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": "P22071", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22071" } ] }, { "ec_number": "1.1.1.145", "activity": "3beta-hydroxyandrost-5-en-17-one + NAD(+) = androst-5-ene-3,17-dione + H(+) + NADH.", "evidence": [ { "id": "P22071", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22071" } ] }, { "ec_number": "5.3.3.1", "activity": "a 3-oxo-Delta(5)-steroid = a 3-oxo-Delta(4)-steroid.", "evidence": [ { "id": "P22071", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22071" } ] }, { "ec_number": "1.1.1.210", "activity": "5alpha-androstane-3beta,17beta-diol + NADP(+) = 17beta-hydroxy-5alpha-androstan-3-one + H(+) + NADPH.", "evidence": [ { "id": "P22071", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22071" } ] } ] }, { "uniprot_ac": "P22072", "gene_name": "Hsd3b", "activity": [ { "ec_number": "5.3.3.1", "activity": "a 3-oxo-Delta(5)-steroid = a 3-oxo-Delta(4)-steroid.", "evidence": [ { "id": "P22072", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22072" } ] }, { "ec_number": "1.1.1.145", "activity": "3beta-hydroxyandrost-5-en-17-one + NAD(+) = androst-5-ene-3,17-dione + H(+) + NADH.", "evidence": [ { "id": "P22072", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22072" } ] } ] }, { "uniprot_ac": "P24815", "gene_name": "Hsd3b1", "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": "P24815", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P24815" } ] }, { "ec_number": "1.1.1.145", "activity": "3beta-hydroxyandrost-5-en-17-one + NAD(+) = androst-5-ene-3,17-dione + H(+) + NADH.", "evidence": [ { "id": "P24815", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P24815" } ] }, { "ec_number": "5.3.3.1", "activity": "a 3-oxo-Delta(5)-steroid = a 3-oxo-Delta(4)-steroid.", "evidence": [ { "id": "P24815", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P24815" } ] }, { "ec_number": "1.1.1.210", "activity": "5alpha-androstane-3beta,17beta-diol + NADP(+) = 17beta-hydroxy-5alpha-androstan-3-one + H(+) + NADPH.", "evidence": [ { "id": "P24815", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P24815" } ] } ] }, { "uniprot_ac": "P26149", "gene_name": "Hsd3b2", "activity": [ { "ec_number": "5.3.3.1", "activity": "a 3-oxo-Delta(5)-steroid = a 3-oxo-Delta(4)-steroid.", "evidence": [ { "id": "P26149", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P26149" } ] }, { "ec_number": "1.1.1.145", "activity": "3beta-hydroxyandrost-5-en-17-one + NAD(+) = androst-5-ene-3,17-dione + H(+) + NADH.", "evidence": [ { "id": "P26149", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P26149" } ] } ] }, { "uniprot_ac": "P26150", "gene_name": "Hsd3b3", "activity": [ { "ec_number": "5.3.3.1", "activity": "a 3-oxo-Delta(5)-steroid = a 3-oxo-Delta(4)-steroid.", "evidence": [ { "id": "P26150", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P26150" } ] }, { "ec_number": "1.1.1.145", "activity": "3beta-hydroxyandrost-5-en-17-one + NAD(+) = androst-5-ene-3,17-dione + H(+) + NADH.", "evidence": [ { "id": "P26150", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P26150" } ] } ] }, { "uniprot_ac": "P26439", "gene_name": "HSD3B2", "activity": [ { "ec_number": "5.3.3.1", "activity": "a 3-oxo-Delta(5)-steroid = a 3-oxo-Delta(4)-steroid.", "evidence": [ { "id": "P26439", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P26439" } ] }, { "ec_number": "1.1.1.145", "activity": "3beta-hydroxyandrost-5-en-17-one + NAD(+) = androst-5-ene-3,17-dione + H(+) + NADH.", "evidence": [ { "id": "P26439", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P26439" } ] } ] }, { "uniprot_ac": "P27364", "gene_name": "Hsd3b5", "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": "P27364", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P27364" } ] }, { "ec_number": "1.1.1.210", "activity": "5alpha-androstane-3beta,17beta-diol + NADP(+) = 17beta-hydroxy-5alpha-androstan-3-one + H(+) + NADPH.", "evidence": [ { "id": "P27364", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P27364" } ] } ] }, { "uniprot_ac": "P30115", "gene_name": "Gsta3", "activity": [ { "ec_number": "2.5.1.18", "activity": "glutathione + RX = a halide anion + an S-substituted glutathione + H(+).", "evidence": [ { "id": "P30115", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P30115" } ] }, { "ec_number": "2.5.1.18", "activity": "", "evidence": [ { "id": "P30115", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P30115" } ] } ] }, { "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": "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": "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": "Q16772", "gene_name": "GSTA3", "activity": [ { "ec_number": "2.5.1.18", "activity": "glutathione + RX = a halide anion + an S-substituted glutathione + H(+).", "evidence": [ { "id": "Q16772", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16772" } ] }, { "ec_number": "2.5.1.18", "activity": "", "evidence": [ { "id": "Q16772", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16772" } ] } ] }, { "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": "Q61694", "gene_name": "Hsd3b5", "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": "Q61694", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q61694" } ] }, { "ec_number": "1.1.1.210", "activity": "5alpha-androstane-3beta,17beta-diol + NADP(+) = 17beta-hydroxy-5alpha-androstan-3-one + H(+) + NADPH.", "evidence": [ { "id": "Q61694", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q61694" } ] } ] }, { "uniprot_ac": "Q61767", "gene_name": "Hsd3b4", "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": "Q61767", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q61767" } ] }, { "ec_number": "1.1.1.210", "activity": "5alpha-androstane-3beta,17beta-diol + NADP(+) = 17beta-hydroxy-5alpha-androstan-3-one + H(+) + NADPH.", "evidence": [ { "id": "Q61767", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q61767" } ] } ] }, { "uniprot_ac": "Q62878", "gene_name": "Hsd3b6", "activity": [ { "ec_number": "5.3.3.1", "activity": "a 3-oxo-Delta(5)-steroid = a 3-oxo-Delta(4)-steroid.", "evidence": [ { "id": "Q62878", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q62878" } ] }, { "ec_number": "1.1.1.145", "activity": "3beta-hydroxyandrost-5-en-17-one + NAD(+) = androst-5-ene-3,17-dione + H(+) + NADH.", "evidence": [ { "id": "Q62878", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q62878" } ] } ] }, { "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": "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": "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": "1.1.1.105", "activity": "all-trans-retinol + NAD(+) = all-trans-retinal + H(+) + NADH.", "evidence": [ { "id": "Q9R092", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9R092" } ] }, { "ec_number": "1.1.1.209", "activity": "androsterone + NADP(+) = 5alpha-androstan-3,17-dione + H(+) + NADPH.", "evidence": [ { "id": "Q9R092", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9R092" } ] }, { "ec_number": "1.1.1.53", "activity": "5alpha-androstane-3alpha,17beta-diol + NAD(+) = 17beta-hydroxy-5alpha-androstan-3-one + H(+) + NADH.", "evidence": [ { "id": "Q9R092", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9R092" } ] }, { "ec_number": "1.1.1.62", "activity": "", "evidence": [ { "id": "Q9R092", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9R092" } ] }, { "ec_number": "1.1.1.105", "activity": "", "evidence": [ { "id": "Q9R092", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9R092" } ] }, { "ec_number": "1.1.1.53", "activity": "", "evidence": [ { "id": "Q9R092", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9R092" } ] }, { "ec_number": "1.1.1.209", "activity": "", "evidence": [ { "id": "Q9R092", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9R092" } ] }, { "ec_number": "1.1.1.239", "activity": "", "evidence": [ { "id": "Q9R092", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9R092" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [ 339 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 269, "end_pos": 271 }, { "start_pos": 52, "end_pos": 54 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 41 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }