{ "uniprot_canonical_ac": "P05093-1", "uniprot_ac": "P05093", "uniprot_id": "CP17A_HUMAN", "mass": { "chemical_mass": 57371.0, "monoisotopic_mass": 57371.0 }, "refseq": { "ac": "NP_000093", "name": "steroid 17-alpha-hydroxylase/17,20 lyase", "summary": "This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. It has both 17alpha-hydroxylase and 17,20-lyase activities and is a key enzyme in the steroidogenic pathway that produces progestins, mineralocorticoids, glucocorticoids, androgens, and estrogens. Mutations in this gene are associated with isolated steroid-17 alpha-hydroxylase deficiency, 17-alpha-hydroxylase/17,20-lyase deficiency, pseudohermaphroditism, and adrenal hyperplasia. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000093" }, "gene_names": [ { "name": "CYP17A1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P05093", "id": "P05093" }, { "name": "CPT7; CYP17; P450C17; S17AH", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000093", "id": "NP_000093" }, { "name": "CYP17A1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000093", "id": "NP_000093" }, { "name": "CYP17", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P05093", "id": "P05093" }, { "name": "S17AH", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P05093", "id": "P05093" } ], "protein_names": [ { "name": "Steroid 17-alpha-hydroxylase/17,20 lyase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P05093" }, { "name": "1.14.14.19", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05093" }, { "name": "1.14.14.32", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05093" }, { "name": "17-alpha-hydroxyprogesterone aldolase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05093" }, { "name": "CYPXVII", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05093" }, { "name": "Cytochrome P450 17A1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05093" }, { "name": "Cytochrome P450-C17", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05093" }, { "name": "Cytochrome P450c17", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05093" }, { "name": "Steroid 17-alpha-monooxygenase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05093" }, { "name": "cytochrome p450 XVIIA1; steroid 17-alpha-monooxygenase; cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia; CYPXVII; cytochrome P450c17; cytochrome P450-C17; cytochrome P450 17A1; 17-alpha-hydroxyprogesterone aldolase; cytochrome P450, family 17, subfamily A, polypeptide 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000093", "id": "NP_000093" }, { "name": "steroid 17-alpha-hydroxylase/17,20 lyase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000093", "id": "NP_000093" } ], "function": [ { "annotation": "A cytochrome P450 monooxygenase involved in corticoid and androgen biosynthesis (PubMed:9452426, PubMed:27339894, PubMed:22266943, PubMed:25301938). Catalyzes 17-alpha hydroxylation of C21 steroids, which is common for both pathways. A second oxidative step, required only for androgen synthesis, involves an acyl-carbon cleavage. The 17-alpha hydroxy intermediates, as part of adrenal glucocorticoids biosynthesis pathway, are precursors of cortisol (PubMed:9452426, PubMed:25301938) (Probable). Hydroxylates steroid hormones, pregnenolone and progesterone to form 17-alpha hydroxy metabolites, followed by the cleavage of the C17-C20 bond to form C19 steroids, dehydroepiandrosterone (DHEA) and androstenedione (PubMed:9452426, PubMed:27339894, PubMed:22266943, PubMed:25301938, PubMed:36640554). Has 16-alpha hydroxylase activity. Catalyzes 16-alpha hydroxylation of 17-alpha hydroxy pregnenolone, followed by the cleavage of the C17-C20 bond to form 16-alpha-hydroxy DHEA (PubMed:36640554). Also 16-alpha hydroxylates androgens, relevant for estriol synthesis (PubMed:27339894, PubMed:25301938). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase) (PubMed:9452426, PubMed:27339894, PubMed:22266943, PubMed:25301938).", "evidence": [ { "database": "UniProtKB", "id": "P05093", "url": "https://www.uniprot.org/uniprot/P05093#function" }, { "database": "PubMed", "id": "22266943", "url": "https://glygen.org/publication/PubMed/22266943" }, { "database": "PubMed", "id": "25301938", "url": "https://glygen.org/publication/PubMed/25301938" }, { "database": "PubMed", "id": "8027220", "url": "https://glygen.org/publication/PubMed/8027220" }, { "database": "PubMed", "id": "27339894", "url": "https://glygen.org/publication/PubMed/27339894" }, { "database": "PubMed", "id": "9452426", "url": "https://glygen.org/publication/PubMed/9452426" }, { "database": "PubMed", "id": "36640554", "url": "https://glygen.org/publication/PubMed/36640554" } ] }, { "annotation": "CYP17A1 (rs74357) polymorphism and polycystic ovary syndrome risk: a systemic review and meta-analysis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000093", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000093" }, { "database": "PubMed", "id": "37539608", "url": "https://glygen.org/publication/PubMed/37539608" } ] }, { "annotation": "Clinical characteristics and molecular etiology of partial 17alpha-hydroxylase deficiency diagnosed in 46,XX patients. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000093", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000093" }, { "database": "PubMed", "id": "36589849", "url": "https://glygen.org/publication/PubMed/36589849" } ] }, { "annotation": "Mutated CYP17A1 promotes atherosclerosis and early-onset coronary artery disease. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000093", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000093" }, { "database": "PubMed", "id": "37370070", "url": "https://glygen.org/publication/PubMed/37370070" } ] }, { "annotation": "Prostate cancer androgen biosynthesis relies solely on CYP17A1 downstream metabolites.", "evidence": [ { "database": "RefSeq", "id": "NP_000093", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000093" }, { "database": "PubMed", "id": "38104728", "url": "https://glygen.org/publication/PubMed/38104728" } ] }, { "annotation": "This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. It has both 17alpha-hydroxylase and 17,20-lyase activities and is a key enzyme in the steroidogenic pathway that produces progestins, mineralocorticoids, glucocorticoids, androgens, and estrogens. Mutations in this gene are associated with isolated steroid-17 alpha-hydroxylase deficiency, 17-alpha-hydroxylase/17,20-lyase deficiency, pseudohermaphroditism, and adrenal hyperplasia. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000093", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000093" } ] } ], "disease": [ { "disease_id": "DOID:0050811", "recommended_name": { "id": "DOID:0050811", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050811", "name": "congenital adrenal hyperplasia", "description": "A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations resulting from steroidogenic enzyme deficiency." }, "synonyms": [ { "id": "DOID:0050811", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050811", "name": "adrenal hyperplasia 1", "description": "" }, { "id": "DOID:0050811", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050811", "name": "congenital lipoid adrenal hyperplasia", "description": "" }, { "id": "DOID:0050811", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050811", "name": "lipoid CAH", "description": "" }, { "id": "MONDO:0008730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008730", "name": "congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency", "description": "A very rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension." }, { "id": "MONDO:0008730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008730", "name": "17-alpha-hydroxylase/17,20-lyase deficiency", "description": "" }, { "id": "MONDO:0008730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008730", "name": "CAH due to 17-alpha-hydroxylase deficiency", "description": "" }, { "id": "MONDO:0008730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008730", "name": "combined 17-hydroxylase/17,20-lyase deficiency", "description": "" }, { "id": "MONDO:0008730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008730", "name": "17,20-lyase deficiency, isolated", "description": "" }, { "id": "MONDO:0008730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008730", "name": "17-Alpha-Hydroxylase deficiency", "description": "" }, { "id": "MONDO:0008730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008730", "name": "17-Alpha-Hydroxylase/17,20-lyase deficiency, combined complete", "description": "" }, { "id": "MONDO:0008730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008730", "name": "17-Alpha-Hydroxylase/17,20-lyase deficiency, combined partial", "description": "" }, { "id": "MONDO:0008730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008730", "name": "adrenal hyperplasia 5", "description": "" }, { "id": "MONDO:0008730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008730", "name": "adrenal hyperplasia, congenital, due to 17-ALPHA-HYDROXYLASE deficiency", "description": "" }, { "id": "MONDO:0008730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008730", "name": "congenital adrenal hyperplasia type 5", "description": "" }, { "id": "MONDO:0008728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008728", "name": "classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency", "description": "The most common form of congenital adrenal hyperplasia (CAH), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females and with adrenal insufficiency (in both sexes), and that presents with dehydration, hypoglycemia in the neonatal period (that can be lethal if untreated), and hyperandrogenia." }, { "id": "MONDO:0008728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008728", "name": "21-OHD", "description": "" }, { "id": "MONDO:0008728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008728", "name": "classic 21-OHD CAH", "description": "" }, { "id": "MONDO:0008728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008728", "name": "classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency", "description": "" }, { "id": "MONDO:0008728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008728", "name": "21 hydroxylase deficiency", "description": "" }, { "id": "MONDO:0008728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008728", "name": "21-hydroxylase deficiency", "description": "" }, { "id": "MONDO:0008728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008728", "name": "CYP21 deficiency", "description": "" }, { "id": "MONDO:0008728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008728", "name": "adrenal hyperplasia 3", "description": "" }, { "id": "MONDO:0008728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008728", "name": "adrenal hyperplasia, congenital, due to 21-HYDROXYLASE deficiency", "description": "" }, { "id": "MONDO:0008728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008728", "name": "adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency", "description": "" }, { "id": "MONDO:0008728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008728", "name": "congenital adrenal hyperplasia 1", "description": "" }, { "id": "MONDO:0008728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008728", "name": "congenital adrenal hyperplasia due to 21-hydroxylase deficiency", "description": "" }, { "id": "MONDO:0008728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008728", "name": "hyperandrogenism, Nonclassic type, due to 21-Hydroxylase deficiency", "description": "" }, { "id": "MONDO:0008725", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008725", "name": "congenital lipoid adrenal hyperplasia due to STAR deficency", "description": "Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males." }, { "id": "MONDO:0008725", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008725", "name": "CLAH", "description": "" }, { "id": "MONDO:0008725", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008725", "name": "lipoid adrenal hyperplasia", "description": "" }, { "id": "MONDO:0008725", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008725", "name": "LCAH", "description": "" }, { "id": "MONDO:0008725", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008725", "name": "adrenal hyperplasia 1", "description": "" }, { "id": "MONDO:0008725", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008725", "name": "congenital adrenal hyperplasia lipoid", "description": "" }, { "id": "MONDO:0008725", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008725", "name": "lipoid congenital adrenal hyperplasia", "description": "" }, { "id": "MONDO:0008725", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008725", "name": "lipoid hyperplasia, congenital, of adrenal cortex with Male pseudohermaphroditism", "description": "" }, { "id": "MONDO:0008729", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008729", "name": "congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency", "description": "Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females." }, { "id": "MONDO:0008729", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008729", "name": "CAH due to 11-beta-hydroxylase deficiency", "description": "" }, { "id": "MONDO:0008729", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008729", "name": "CYP11B1 deficiency", "description": "" }, { "id": "MONDO:0008729", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008729", "name": "adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency", "description": "" }, { "id": "MONDO:0008729", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008729", "name": "11-Beta-Hydroxylase deficiency", "description": "" }, { "id": "MONDO:0008729", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008729", "name": "P450C11B1 deficiency", "description": "" }, { "id": "MONDO:0008729", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008729", "name": "adrenal hyperplasia 4", "description": "" }, { "id": "MONDO:0008729", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008729", "name": "adrenal hyperplasia IV", "description": "" }, { "id": "MONDO:0008729", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008729", "name": "adrenal hyperplasia hypertensive form", "description": "" }, { "id": "MONDO:0008729", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008729", "name": "adrenal hyperplasia, congenital, due to steroid 11-BETA-HYDROXYLASE deficiency", "description": "" }, { "id": "MONDO:0008729", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008729", "name": "adrenal hyperplasia, hypertensive form", "description": "" }, { "id": "MONDO:0008729", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008729", "name": "steroid 11-Beta-Hydroxylase deficiency", "description": "" }, { "id": "MONDO:0008727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008727", "name": "congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency", "description": "Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias." }, { "id": "MONDO:0008727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008727", "name": "3-beta HSD deficiency", "description": "" }, { "id": "MONDO:0008727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008727", "name": "CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency", "description": "" }, { "id": "MONDO:0008727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008727", "name": "3-BETA-hydroxysteroid dehydrogenase, type II, deficiency OF", "description": "" }, { "id": "MONDO:0008727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008727", "name": "3-Beta-HSD deficiency", "description": "" }, { "id": "MONDO:0008727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008727", "name": "3-Beta-hydroxysteroid dehydrogenase deficiency", "description": "" }, { "id": "MONDO:0008727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008727", "name": "3b-hydroxysteroid dehydrogenase deficiency", "description": "" }, { "id": "MONDO:0008727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008727", "name": "HSD3B deficiency", "description": "" }, { "id": "MONDO:0008727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008727", "name": "adrenal hyperplasia 2", "description": "" }, { "id": "MONDO:0008727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008727", "name": "adrenal hyperplasia II", "description": "" }, { "id": "MONDO:0008727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008727", "name": "adrenal hyperplasia, congenital, due to 3-BETA-hydroxysteroid dehydrogenase 2 deficiency", "description": "" }, { "id": "MONDO:0008727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008727", "name": "adrenal hyperplasia, congenital, due to 3-Beta-hydroxysteroid dehydrogenase 2 deficiency", "description": "" }, { "id": "MONDO:0008727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008727", "name": "type II 3-beta-hydroxysteroid dehydrogenase deficiency", "description": "" }, { "id": "MIM:202110", "resource": "MIM", "url": "https://www.omim.org/entry/202110", "name": "Adrenal hyperplasia 5", "description": "Adrenal hyperplasia 5" }, { "id": "MIM:201910", "resource": "MIM", "url": "https://www.omim.org/entry/201910", "name": "Adrenal hyperplasia 3", "description": "Adrenal hyperplasia 3" }, { "id": "MIM:201710", "resource": "MIM", "url": "https://www.omim.org/entry/201710", "name": "Adrenal hyperplasia 1", "description": "Adrenal hyperplasia 1" }, { "id": "MIM:202010", "resource": "MIM", "url": "https://www.omim.org/entry/202010", "name": "Adrenal hyperplasia 4", "description": "Adrenal hyperplasia 4" }, { "id": "MIM:201810", "resource": "MIM", "url": "https://www.omim.org/entry/201810", "name": "Adrenal hyperplasia 2", "description": "Adrenal hyperplasia 2" } ], "evidence": [ { "id": "202110", "database": "MIM", "url": "https://www.omim.org/entry/202110" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 105, "end_pos": 105, "sequence_org": "A", "sequence_mut": "L", "comment": "Increases the affinity for progesterone, resulting in preferential hydroxylation of progesterone at C17 over C16; increases the catalytic efficiency in the 17,20 lyase reaction.", "evidence": [ { "database": "UniProtKB", "id": "P05093", "url": "https://www.uniprot.org/uniprot/P05093" }, { "database": "PubMed", "id": "25301938", "url": "https://glygen.org/publication/PubMed/25301938" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "84.22", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000148795", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000148795" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "43.13", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000148795", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000148795" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "53.98", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000148795", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000148795" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000148795", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000148795" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "76.87", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000148795", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000148795" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "60.84", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000148795", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000148795" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000148795", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000148795" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "63.33", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000148795", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000148795" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": 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"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", 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"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": 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"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", 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P05093", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05093" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"MWELVALLLLTLAYLFWPKRRCPGAKYPKSLLSLPLVGSLPFLPRHGHMHNNFFKLQKKYGPIYSVRMGTKTTVIVGHHQLAKEVLIKKGKDFSGRPQMATLDIASNNRKGIAFADSGAHWQLHRRLAMATFALFKDGDQKLEKIICQEISTLCDMLATHNGQSIDISFPVFVAVTNVISLICFNTSYKNGDPELNVIQNYNEGIIDNLSKDSLVDLVPWLKEKFRSDSITNMLDTLMQAKMNSDNGNAGPDQDSELLSDNHILTTIGDIFGAGVETTTSVVKWTLAFLLHNPQVKKKLYEEIDQNVGFSRTPTISDRNRLLLLEATIREVLRLRPVAPMLIPHKANVDSSIGEFAVDKGTEVIINLWALHHNEKEWHQPDQFMPERFLNPAGTQLISPSVSYLPFGAGPRSCIGEILARQELFLIMAWLLQRFDLEVPDDGQLPSLEGIPKVVFLIDSFKVKIKVRQAWREAQAEGST", "length": 479, "header": "tr|A0A1W2PQT5-1|A0A1W2PQT5_HUMAN Computationally mapped isoform of Cytochrome P450 family 17 subfamily A member 1 OS=Homo sapiens OX=9606 GN=CYP17A1 PE=1 SV=1 CANONICAL=P05093-1" }, "locus": { "chromosome": "10", "start_pos": 102837361, "end_pos": 102830705, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000638971.1", "url": "https://www.ensembl.org/id/ENST00000638971.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000492313.1", "url": "https://www.ensembl.org/id/ENSP00000492313.1" } ] } }, { "isoform_ac": "A0A1W2PRK7-1", "url": "", "sequence": { "sequence": "MWELVALLLLTLAYLFWPKRRCPGAKYPKSLLSLPLVGSLPFLPRHGHMHNNFFKLQKKYGPIYSVRMGTKTTVIVGHHQLAKEVLIKKGKDFSGRPQMATLDIASNNRKGIAFADSGAHWQLHRRLAMATFALFKDGDQKLEKIICQEISTLCDMLATHNGQSIDISFPVFVAVTNVISLICFNTSYKNGDPELNVIQNYNEGIIDNLSKDSLVDLVPWLKIFPNKTLEKLKSHVKIRNDLLNKILENYKEKFRSDSITNMLDTLMQAKMNSDNGNAGPDQDSELLSDNHILTTIGDIFGAGVETTTSVVKWTLAFLLHNPQVKKKLYEEIDQNVGFSRTPTISDRNRLLLLEATIREVLRLRPVAPMLIPHKANVDSSSIGEFAVDKGTEVIINLWALHHNEKEWHQPDQFMPERFLNPAGTQLISPSVSYLPFGAGPRSCIGEILARQELFLIMAWLLQRFDLEVPDDGQLPSLEGIPKVVFLIDSFKVKIKVRQAWREAQAEGST", "length": 509, "header": "tr|A0A1W2PRK7-1|CP17A_HUMAN Computationally mapped isoform of Steroid 17-alpha-hydroxylase/17,20 lyase OS=Homo sapiens OX=9606 GN=CYP17A1 PE=1 SV=1 CANONICAL=P05093-1" }, "locus": { "chromosome": "10", "start_pos": 102837361, "end_pos": 102830705, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000639393.1", "url": "https://www.ensembl.org/id/ENST00000639393.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000492651.1", "url": "https://www.ensembl.org/id/ENSP00000492651.1" } ] } }, { "isoform_ac": "A0A1W2PRY0-1", "url": "", "sequence": { "sequence": "MWELVALLLLTLAYLFWPKRRCPGAKYPKSLLSLPLVGSLPFLPRHGHMHNNFFKLQKKYGPIYSVRMGTKTTVIVGHHQLAKEVLIKKGKDFSGRPQMATLDIASNNRKGIAFADSGAHWQLHRRLAMATFALFKDGDQKLEKIICQEISTLCDMLATHNGQSIDISFPVFVAVTNVISLICFNTSYKNGDPELNVIQNYNEGIIDNLSKDSLVDLVPWLKVKKKLYEEIDQNVGFSRTPTISDRNRLLLLEATIREVLRLRPVAPMLIPHKANVDSSIGEFAVDKGTEVIINLWALHHNEKEWHQPDQFMPERFLNPAGTQLISPSVSYLPFGAGPRSCIGEILARQELFLIMAWLLQRFDLEVPDDGQLPSLEGIPKVVFLIDSFKVKIKVRQAWREAQAEGST", "length": 407, "header": "tr|A0A1W2PRY0-1|A0A1W2PRY0_HUMAN Computationally mapped isoform of Cytochrome P450 family 17 subfamily A member 1 OS=Homo sapiens OX=9606 GN=CYP17A1 PE=1 SV=1 CANONICAL=P05093-1" }, "locus": { "chromosome": "10", "start_pos": 102837361, "end_pos": 102830705, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000638190.1", "url": "https://www.ensembl.org/id/ENST00000638190.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000492539.1", "url": "https://www.ensembl.org/id/ENSP00000492539.1" } ] } }, { "isoform_ac": "P05093-1", "url": "", "sequence": { "sequence": "MWELVALLLLTLAYLFWPKRRCPGAKYPKSLLSLPLVGSLPFLPRHGHMHNNFFKLQKKYGPIYSVRMGTKTTVIVGHHQLAKEVLIKKGKDFSGRPQMATLDIASNNRKGIAFADSGAHWQLHRRLAMATFALFKDGDQKLEKIICQEISTLCDMLATHNGQSIDISFPVFVAVTNVISLICFNTSYKNGDPELNVIQNYNEGIIDNLSKDSLVDLVPWLKIFPNKTLEKLKSHVKIRNDLLNKILENYKEKFRSDSITNMLDTLMQAKMNSDNGNAGPDQDSELLSDNHILTTIGDIFGAGVETTTSVVKWTLAFLLHNPQVKKKLYEEIDQNVGFSRTPTISDRNRLLLLEATIREVLRLRPVAPMLIPHKANVDSSIGEFAVDKGTEVIINLWALHHNEKEWHQPDQFMPERFLNPAGTQLISPSVSYLPFGAGPRSCIGEILARQELFLIMAWLLQRFDLEVPDDGQLPSLEGIPKVVFLIDSFKVKIKVRQAWREAQAEGST", "length": 508, "header": "sp|P05093-1|CP17A_HUMAN Isoform 1 of Steroid 17-alpha-hydroxylase/17,20 lyase OS=Homo sapiens OX=9606 GN=CYP17A1 PE=1 SV=1 CANONICAL=P05093-1" }, "locus": { "chromosome": "10", "start_pos": 102837361, "end_pos": 102830705, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000369887.4", "url": "https://www.ensembl.org/id/ENST00000369887.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000358903.3", "url": "https://www.ensembl.org/id/ENSP00000358903.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P05093", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P05093" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "phosphorylation": [ { "start_pos": 258, "end_pos": 258, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P05093", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05093" }, { "database": "PubMed", "id": "20160131", "url": "https://glygen.org/publication/PubMed/20160131" }, { "database": "phospho.ELM", "id": "P05093", "url": "http://phospho.elm.eu.org/byAccession/P05093.html" }, { "database": "PubMed", "id": "16616104", "url": "https://glygen.org/publication/PubMed/16616104" } ], "site_lbl": "Ser258" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Molecular modeling of human P450c17 (17alpha-hydroxylase/17,20-lyase): insights into reaction mechanisms and effects of mutations.", "journal": "Mol. Endocrinol.", "date": "1999", "authors": "Auchus RJ, Miller WL", "evidence": [ { "database": "UniProtKB", "id": "P05093", "url": "https://www.uniprot.org/uniprot/P05093" }, { "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": "17alpha-hydroxylase/17,20-lyase deficiency as a model to study enzymatic activity regulation: role of phosphorylation.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2000", "authors": "Biason-Lauber A, Kempken B, Werder E, Forest MG, Einaudi S, Ranke MB, Matsuo N, Brunelli V, Schonle EJ, Zachmann M", "evidence": [ { "database": "UniProtKB", "id": "P05093", "url": "https://www.uniprot.org/uniprot/P05093" } ], "reference": [ { "type": "PubMed", "id": "10720067", "url": "https://glygen.org/publication/PubMed/10720067" } ] }, { "title": "Pitfalls in characterizing P450c17 mutations associated with isolated 17,20-lyase deficiency.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2001", "authors": "Gupta MK, Geller DH, Auchus RJ", "evidence": [ { "database": "UniProtKB", "id": "P05093", "url": "https://www.uniprot.org/uniprot/P05093" } ], "reference": [ { "type": "PubMed", "id": "11549685", "url": "https://glygen.org/publication/PubMed/11549685" } ] }, { "title": "Combined 17alpha-Hydroxylase/17,20-lyase deficiency caused by Phe93Cys mutation in the CYP17 gene.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2002", "authors": "Di Cerbo A, Biason-Lauber A, Savino M, Piemontese MR, Di Giorgio A, Perona M, Savoia A", "evidence": [ { "database": "UniProtKB", "id": "P05093", "url": "https://www.uniprot.org/uniprot/P05093" } ], "reference": [ { "type": "PubMed", "id": "11836339", "url": "https://glygen.org/publication/PubMed/11836339" } ] }, { "title": "Differential inhibition of 17alpha-hydroxylase and 17,20-lyase activities by three novel missense CYP17 mutations identified in patients with P450c17 deficiency.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2002", "authors": "Van Den Akker EL, Koper JW, Boehmer AL, Themmen AP, Verhoef-Post M, Timmerman MA, Otten BJ, Drop SL, De Jong FH", "evidence": [ { "database": "UniProtKB", "id": "P05093", "url": "https://www.uniprot.org/uniprot/P05093" }, { "database": "Reactome", "id": "R-HSA-5579028", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5579028" } ], "reference": [ { "type": "PubMed", "id": "12466376", "url": "https://glygen.org/publication/PubMed/12466376" } ] }, { "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-194002", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-194002" } ], "reference": [ { "type": "PubMed", "id": "12832414", "url": "https://glygen.org/publication/PubMed/12832414" } ] }, { "title": "P450c17 deficiency in Brazilian patients: biochemical diagnosis through progesterone levels confirmed by CYP17 genotyping.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2003", "authors": "Martin RM, Lin CJ, Costa EM, de Oliveira ML, Carrilho A, Villar H, Longui CA, Mendonca BB", "evidence": [ { "database": "UniProtKB", "id": "P05093", "url": "https://www.uniprot.org/uniprot/P05093" }, { "database": "Reactome", "id": "R-HSA-5579028", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5579028" } ], "reference": [ { "type": "PubMed", "id": "14671162", "url": "https://glygen.org/publication/PubMed/14671162" } ] }, { "title": "Molecular basis of apparent isolated 17,20-lyase deficiency: compound heterozygous mutations in the C-terminal region (Arg(496)----Cys, Gln(461)----Stop) actually cause combined 17 alpha-hydroxylase/17,20-lyase deficiency.", "journal": "Biochimica et biophysica acta", "date": "1992", "authors": "Yanase T, Waterman MR, Zachmann M, Winter JS, Simpson ER, Kagimoto M", "evidence": [ { "database": "UniProtKB", "id": "P05093", "url": "https://www.uniprot.org/uniprot/P05093" } ], "reference": [ { "type": "PubMed", "id": "1515452", "url": "https://glygen.org/publication/PubMed/1515452" } ] }, { "title": "A novel point mutation in P450c17 (CYP17) causing combined 17alpha-hydroxylase/17,20-lyase deficiency.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2006", "authors": "Brooke AM, Taylor NF, Shepherd JH, Gore ME, Ahmad T, Lin L, Rumsby G, Papari-Zareei M, Auchus RJ, Achermann JC, Monson JP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5579028", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5579028" } ], "reference": [ { "type": "PubMed", "id": "16569739", "url": "https://glygen.org/publication/PubMed/16569739" } ] }, { "title": "Mutagenesis of putative serine-threonine phosphorylation sites proximal to Arg255 of human cytochrome P450c17 does not selectively promote its 17,20-lyase activity.", "journal": "Fertility and sterility", "date": "2006", "authors": "Souter I, Munir I, Mallick P, Weitsman SR, Geller DH, Magoffin DA", "evidence": [ { "database": "iPTMnet", "id": "P05093", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05093" } ], "reference": [ { "type": "PubMed", "id": "16616104", "url": "https://glygen.org/publication/PubMed/16616104" } ] }, { "title": "Are CYP17 genotypes a biomarker for ovarian cancer in patients with cancer history in their family?", "journal": "Oncology research", "date": "2006", "authors": "Yazici H, Tigli H, Kadehci Z, Kucucuk S, Saip P, Issever H, Ozcelik H, Dalay N", "evidence": [ { "database": "GlyGen", "id": "A0346", "url": "https://data.glygen.org/GLY_000625" } ], "reference": [ { "type": "PubMed", "id": "16783967", "url": "https://glygen.org/publication/PubMed/16783967" } ] }, { "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": "Missense mutation serine106----proline causes 17 alpha-hydroxylase deficiency.", "journal": "The Journal of biological chemistry", "date": "1991", "authors": "Lin D, Harikrishna JA, Moore CC, Jones KL, Miller WL", "evidence": [ { "database": "UniProtKB", "id": "P05093", "url": "https://www.uniprot.org/uniprot/P05093" }, { "database": "Reactome", "id": "R-HSA-5579028", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5579028" } ], "reference": [ { "type": "PubMed", "id": "1714904", "url": "https://glygen.org/publication/PubMed/1714904" } ] }, { "title": "Compound heterozygous mutations (Arg 239----stop, Pro 342----Thr) in the CYP17 (P45017 alpha) gene lead to ambiguous external genitalia in a male patient with partial combined 17 alpha-hydroxylase/17,20-lyase deficiency.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "1992", "authors": "Ahlgren R, Yanase T, Simpson ER, Winter JS, Waterman MR", "evidence": [ { "database": "UniProtKB", "id": "P05093", "url": "https://www.uniprot.org/uniprot/P05093" } ], "reference": [ { "type": "PubMed", "id": "1740503", "url": "https://glygen.org/publication/PubMed/1740503" } ] }, { "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": "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-194002", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-194002" } ], "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": "Tissue-specific, cyclic adenosine 3',5'-monophosphate-induced, and phorbol ester-repressed transcription from the human P450c17 promoter in mouse cells.", "journal": "Mol. Endocrinol.", "date": "1990", "authors": "Brentano S T, Picado-Leonard J, Mellon S H, Moore C C, Miller W L", "evidence": [ { "database": "UniProtKB", "id": "P05093", "url": "https://www.uniprot.org/uniprot/P05093" } ], "reference": [ { "type": "PubMed", "id": "1964490", "url": "https://glygen.org/publication/PubMed/1964490" } ] }, { "title": "Novel CYP17A1 mutation in a Japanese patient with combined 17alpha-hydroxylase/17,20-lyase deficiency.", "journal": "Metabolism: clinical and experimental", "date": "2010", "authors": "Katsumata N, Ogawa E, Fujiwara I, Fujikura K", "evidence": [ { "database": "UniProtKB", "id": "P05093", "url": "https://www.uniprot.org/uniprot/P05093" } ], "reference": [ { "type": "PubMed", "id": "19793597", "url": "https://glygen.org/publication/PubMed/19793597" } ] }, { "title": "An overview on 5alpha-reductase inhibitors.", "journal": "Steroids", "date": "2010", "authors": "Aggarwal S, Thareja S, Verma A, Bhardwaj TR, Kumar M", "evidence": [ { "database": 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"PubMed", "id": "20160131", "url": "https://glygen.org/publication/PubMed/20160131" } ] }, { "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": "Structures of cytochrome P450 17A1 with prostate cancer drugs abiraterone and TOK-001.", "journal": "Nature", "date": "2012-01-22", "authors": "DeVore Natasha M, Scott Emily E", "evidence": [ { "database": "UniProtKB", "id": "P05093", "url": "https://www.uniprot.org/uniprot/P05093" } ], "reference": [ { "type": 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"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:1586", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:1586", "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-194002", 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"MWELVGLLLLILAYFFWVKSKTPGAKLPRSLPSLPLVGSLPFLPRRGHMHVNFFKLQEKYGPIYSLRLGTTTTVIIGHYQLAREVLIKKGKEFSGRPQMVTQSLLSDQGKGVAFADAGSSWHLHRKLVFSTFSLFKDGQKLEKLICQEAKSLCDMMLAHDKESIDLSTPIFMSVTNIICAICFNISYEKNDPKLTAIKTFTEGIVDATGDRNLVDIFPWLTIFPNKGLEVIKGYAKVRNEVLTGIFEKCREKFDSQSISSLTDILIQAKMNSDNNNSCEGRDPDVFSDRHILATVGDIFGAGIETTTTVLKWILAFLVHNPEVKKKIQKEIDQYVGFSRTPTFNDRSHLLMLEATIREVLRIRPVAPMLIPHKANVDSSIGEFTVPKDTHVVVNLWALHHDENEWDQPDQFMPERFLDPTGSHLITPTQSYLPFGAGPRSCIGEALARQELFVFTALLLQRFDLDVSDDKQLPRLEGDPKVVFLIDPFKVKITVRQAWMDAQAEVST", "length": 507 }, "evidence": [ { "id": "45918136", "url": "http://www.informatics.jax.org/homology/45918136", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P19100-1", "protein_name": "Steroid 17-alpha-hydroxylase/17,20 lyase", "gene_name": "CYP17A1", "tax_id": 9823, "organism": "Sus scrofa", "sequence": { "sequence": "MWVLLVFFLLTLTYLFWPKTKGSGAKYPRSLPVLPVVGSLPFLPRRGHQHMNFFKLQDKYGPIFSFRLGSKTTVVIGDHQLAKEVLLKKGKEFSGRPRVMTLDILSDNQKGIAFADHGTSWQLHRKLALSTFSLFKGGNLKLENIINQEIKVLCDFLATRNGESIDLAQPLSLAMTNIVSFICFNFSFKKGDPALQAIVNFNDGILDAVGKEILYDMFPGIRILPSQTLENMKQCVRMRNELLREILENRKENYSRNSITNLLDIMIQAKTNAESNTGGPDHNLKLLSDRHMLATVADIFGAGVETSASVVKWIVAFLLHYPLLRKKIQDAIDQNIGFNRAPSISDRNQLVLLEATIREVLRFRPVSPTLIPHRAIIDSSIGEFTIDKDTDVVVNLWALHHNEKEWHRPDLFMPERFLDPTGTQLISPSLSYLPFGAGPRSCVGEMLARQELFLFTAGLLQRFDLELPDDGQLPCLVGNPSLVLQIDPFKVKIKERQAWKEAHTEGSTS", "length": 509 }, "evidence": [ { "id": "P05093", "url": "https://omabrowser.org/oma/group/P05093/", "database": "OMA" } ], "common_name": "Pig" }, { "uniprot_canonical_ac": "P27786-1", "protein_name": "Steroid 17-alpha-hydroxylase/17,20 lyase", "gene_name": "Cyp17a1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MWELVGLLLLILAYFFWPKSKTPNAKFPRSLPFLPLVGSLPFLPRRGHMHANFFKLQEKYGPIYSLRLGTTTAVIVGHYQLAREVLVKKGKEFSGRPQMVTLGLLSDQGKGVAFADSSSSWQLHRKLVFSTFSLFRDDQKLEKMICQEANSLCDLILTYDGESRDLSTLIFKSVINIICTICFNISFENKDPILTTIQTFTEGIVDVLGHSDLVDIFPWLKIFPNKNLEMIKEHTKIREKTLVEMFEKCKEKFNSESLSSLTDILIQAKMNAENNNTGEGQDPSVFSDKHILVTVGDIFGAGIETTSSVLNWILAFLVHNPEVKRKIQKEIDQYVGFSRTPSFNDRTHLLMLEATIREVLRIRPVAPLLIPHKANIDSSIGEFAIPKDTHVIINLWALHHDKNEWDQPDRFMPERFLDPTGSHLITPTPSYLPFGAGPRSCIGEALARQELFIFMALLLQRFDFDVSDDKQLPCLVGDPKVVFLIDPFKVKITVRQAWKDAQVEVST", "length": 507 }, "evidence": [ { "id": "45918136", "url": "http://www.informatics.jax.org/homology/45918136", "database": "MGI" }, { "id": "P05093", "url": "https://omabrowser.org/oma/group/P05093/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 7, "go_terms": [ { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "P05093", "url": "https://www.uniprot.org/uniprot/P05093" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "P05093", "url": "https://www.uniprot.org/uniprot/P05093" } ], "pmid": "" }, { "name": "oxygen binding", "id": "GO:0019825", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019825", "evidence": [ { "database": "UniProtKB", "id": "P05093", "url": "https://www.uniprot.org/uniprot/P05093" } ], "pmid": "" }, { "name": "steroid 17-alpha-monooxygenase activity", "id": "GO:0004508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004508", "evidence": [ { "database": "UniProtKB", "id": "P05093", "url": "https://www.uniprot.org/uniprot/P05093" } ], "pmid": "" }, { "name": "17-alpha-hydroxyprogesterone aldolase activity", "id": "GO:0047442", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047442", "evidence": [ { "database": "UniProtKB", "id": "P05093", "url": "https://www.uniprot.org/uniprot/P05093" } ], "pmid": "" }, { "name": "monooxygenase activity", "id": "GO:0004497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004497", "evidence": [ { "database": "UniProtKB", "id": "P05093", "url": "https://www.uniprot.org/uniprot/P05093" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen", "id": "GO:0016705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016705", "evidence": [ { "database": "UniProtKB", "id": "P05093", "url": "https://www.uniprot.org/uniprot/P05093" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P05093", "url": "https://www.uniprot.org/uniprot/P05093" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "P05093", "url": "https://www.uniprot.org/uniprot/P05093" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "P05093", "url": "https://www.uniprot.org/uniprot/P05093" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "P05093", "url": "https://www.uniprot.org/uniprot/P05093" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 7, "go_terms": [ { "name": "hormone biosynthetic process", "id": "GO:0042446", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042446", "evidence": [ { "database": "UniProtKB", "id": "P05093", "url": "https://www.uniprot.org/uniprot/P05093" } ], "pmid": "" }, { "name": "steroid biosynthetic process", "id": "GO:0006694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006694", "evidence": [ { "database": "UniProtKB", "id": "P05093", "url": "https://www.uniprot.org/uniprot/P05093" } ], "pmid": "" }, { "name": "androgen biosynthetic process", "id": "GO:0006702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006702", "evidence": [ { "database": "UniProtKB", "id": "P05093", "url": "https://www.uniprot.org/uniprot/P05093" } ], "pmid": "" }, { "name": "glucocorticoid biosynthetic process", "id": "GO:0006704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006704", "evidence": [ { "database": "UniProtKB", "id": "P05093", "url": "https://www.uniprot.org/uniprot/P05093" } ], "pmid": "" }, { "name": "sex differentiation", "id": "GO:0007548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007548", "evidence": [ { "database": "UniProtKB", "id": "P05093", "url": "https://www.uniprot.org/uniprot/P05093" } ], "pmid": "" }, { "name": "steroid metabolic process", "id": "GO:0008202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008202", "evidence": [ { "database": "UniProtKB", "id": "P05093", "url": "https://www.uniprot.org/uniprot/P05093" } ], "pmid": "" }, { "name": "progesterone metabolic process", "id": "GO:0042448", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042448", "evidence": [ { "database": "UniProtKB", "id": "P05093", "url": "https://www.uniprot.org/uniprot/P05093" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 185, "end_pos": 187, "annotation": "n_glycosylation_sequon" }, { "start_pos": 208, "end_pos": 210, "annotation": "n_glycosylation_sequon" }, { "start_pos": 226, "end_pos": 228, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Phosphorylation is necessary for 17,20-lyase, but not for 17-alpha-hydroxylase activity.", "evidence": [ { "database": "UniProtKB", "id": "P05093", "url": "https://www.uniprot.org/uniprot/P05093" }, { "database": "PubMed", "id": "10720067", "url": "https://glygen.org/publication/PubMed/10720067" } ] } ], "interactions": [], "reactions": [ { "id": "14753", "name": "", "equation": "17alpha-hydroxyprogesterone + O2 + reduced [NADPH--hemoprotein reductase] = acetate + androst-4-ene-3,17-dione + 2 H(+) + H2O + oxidized [NADPH--hemoprotein reductase]", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P11715-1", "P05093-1", "P27786-1" ], "evidence": [ { "id": "14753", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/14753" } ] }, { "id": "46308", "name": "", "equation": "O2 + progesterone + reduced [NADPH--hemoprotein reductase] = 17alpha-hydroxyprogesterone + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P11715-1", "Q9Y6A2-1", "P05093-1", "Q9WVK8-1", "P27786-1" ], "evidence": [ { "id": "46308", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/46308" } ] }, { "id": "47220", "name": "", "equation": "3beta-hydroxyandrost-5-en-17-one + O2 + reduced [NADPH--hemoprotein reductase] = 3beta,16alpha-dihydroxy-androst-5-en-17-one + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P11715-1", "P05093-1", "P24462-1", "P27786-1" ], "evidence": [ { "id": "47220", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/47220" } ] }, { "id": "50236", "name": "", "equation": "O2 + pregnenolone + reduced [NADPH--hemoprotein reductase] = 17alpha-hydroxypregnenolone + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P11715-1", "P05093-1", "P27786-1" ], "evidence": [ { "id": "50236", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/50236" } ] }, { "id": "50244", "name": "", "equation": "17alpha-hydroxypregnenolone + O2 + reduced [NADPH--hemoprotein reductase] = 3beta-hydroxyandrost-5-en-17-one + acetate + 2 H(+) + H2O + oxidized [NADPH--hemoprotein reductase]", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P11715-1", "P05093-1", "P27786-1" ], "evidence": [ { "id": "50244", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/50244" } ] }, { "id": "53216", "name": "", "equation": "17alpha-hydroxyprogesterone + O2 + reduced [NADPH--hemoprotein reductase] = 16alpha,17alpha-dihydroxyprogesterone + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P11715-1", "P05093-1", "P27786-1" ], "evidence": [ { "id": "53216", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/53216" } ] }, { "id": "53220", "name": "", "equation": "16alpha,17alpha-dihydroxyprogesterone + O2 + reduced [NADPH--hemoprotein reductase] = 6beta,16alpha,17alpha-trihydroxyprogesterone + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P11715-1", "P05093-1", "P27786-1" ], "evidence": [ { "id": "53220", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/53220" } ] }, { "id": "53224", "name": "", "equation": "16alpha,17alpha-dihydroxypregnenolone + O2 + reduced [NADPH--hemoprotein reductase] = 3beta,16alpha-dihydroxy-androst-5-en-17-one + acetate + 2 H(+) + H2O + oxidized [NADPH--hemoprotein reductase]", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P11715-1", "P05093-1", "P27786-1" ], "evidence": [ { "id": "53224", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/53224" } ] }, { "id": "53228", "name": "", "equation": "androst-4-ene-3,17-dione + O2 + reduced [NADPH--hemoprotein reductase] = 16alpha-hydroxyandrost-4-ene-3,17-dione + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P11715-1", "P05093-1", "P27786-1" ], "evidence": [ { "id": "53228", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/53228" } ] }, { "id": "65760", "name": "", "equation": "a C21-steroid + O2 + reduced [NADPH--hemoprotein reductase] = a 17alpha-hydroxy-C21-steroid + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P11715-1", "P05093-1", "P27786-1" ], "evidence": [ { "id": "65760", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/65760" } ] }, { "id": "R-HSA-193068", "name": "CYP17A1 17-hydroxylates PREG", "equation": "", "summary": "Pregnenolone (PREG) and NADPH + H+ react to form 17alpha-hydroxypregnenolone (17aHPREG), NADP+, and H2O. Steroid 17 alpha hydroxylase/17,20 lyase (CYP17A1), associated with the endoplasmic reticulum membrane, catalyzes this reaction.", "cellular_location": "cytosol, endoplasmic reticulum membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P05093-1" ], "evidence": [ { "id": "R-HSA-193068", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193068" } ] }, { "id": "R-HSA-193070", "name": "CYP17A1 cleaves 17aHPREG to DHA", "equation": "", "summary": "17-alpha-hydroxypregnenolone, NADPH + H+, and O2 react to form DHA (dehydroepiandrostenedione), NADP+, H2O, and acetaldehyde. CYP17 (which also catalyzes 17-alpha-hydroxylation) catalyzes this lyase reaction. There are marked species differences in which substrate is used for this lyase activity. The human enzyme prefers 17alpha-pregnenolone (delta5 steroid) as substrate (Brock, BJ, Waterman, MR, 1999). 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": [ "P05093-1" ], "evidence": [ { "id": "R-HSA-193070", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193070" } ] }, { "id": "R-HSA-193072", "name": "CYP17A1 17-hydroxylates P4 to 17aHPROG", "equation": "", "summary": "Progesterone (P4), NADPH + H+, and O2 react to form 17alpha-hydroxyprogesterone (17aHPROG), NADP+, and H2O. This reaction is catalyzed by steroid 17 alpha hydroxylase/17,20 lyase (CYP17A1), associated with the endoplasmic reticulum membrane.", "cellular_location": "cytosol, endoplasmic reticulum membrane", "input_participant_list": [ "R-ALL-193055" ], "output_participant_list": [], "enzyme_list": [ "P05093-1" ], "evidence": [ { "id": "R-HSA-193072", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193072" } ] }, { "id": "R-HSA-193099", "name": "CYP17A1 cleaves 17aHPROG to ANDST", "equation": "", "summary": "17Alpha-hydroxyprogesterone (17aHPROG), NADPH + H+, and O2 react to form 4-Androstene-3, 17-dione (ANDST), NADP+, H2O, and acetaldehyde. Steroid 17 alpha hydroxylase/17,20 lyase (CYP17A1), which also catalyzes 17-alpha-hydroxylation, catalyzes this lyase reaction.", "cellular_location": "cytosol, endoplasmic reticulum membrane", "input_participant_list": [ "R-ALL-193092" ], "output_participant_list": [], "enzyme_list": [ "P05093-1" ], "evidence": [ { "id": "R-HSA-193099", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193099" } ] }, { "id": "R-HSA-5601843", "name": "Defective CYP17A1 does not 17-hydroxylate PREG", "equation": "", "summary": "Steroid 17-alpha-hydroxylase/17,20 lyase (CYP17A1) mediates both 17-alpha-hydroxylase and 17,20-lyase activity, allowing the adrenal glands and gonads to synthesise both 17-alpha-hydroxylated glucocorticoids and sex steroids respectively (Kagimoto et al. 1998). Defects in CYP17A1 can cause Adrenal hyperplasia 5 (AH5), a form of congenital adrenal hyperplasia (CAH), a common recessive disease due to defective synthesis of cortisol and sex steroids. Mutations causing combined 17-alpha-hydroxylase/17,20-lyase deficiency include S106P, R96W, W17*, R362C, W406R and R96Q (Lin et al. 1991, Laflamme et al. 1996, Suzuki et al. 1998, Martin et al. 2003, Brooke et al. 2006). Mutations causing isolated 17,20-lyase deficiency are R358Q and R347H (Geller et al. 1997, Van den Akker et al. 2002).", "cellular_location": "cytosol, endoplasmic reticulum membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P05093-1" ], "evidence": [ { "id": "R-HSA-5601843", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5601843" } ] }, { "id": "R-HSA-9035954", "name": "Defective CYP17A1 does not 17-hydroxylate P4", "equation": "", "summary": "Steroid 17-alpha-hydroxylase/17,20 lyase (CYP17A1) mediates both 17-alpha-hydroxylase and 17,20-lyase activity, allowing the adrenal glands and gonads to synthesise both 17-alpha-hydroxylated glucocorticoids and sex steroids respectively (Kagimoto et al. 1998). Defects in CYP17A1 can cause Adrenal hyperplasia 5 (AH5), a form of congenital adrenal hyperplasia (CAH), a common recessive disease due to defective synthesis of cortisol and sex steroids. Mutations causing combined 17-alpha-hydroxylase/17,20-lyase deficiency include S106P, R96W, W17*, R362C, W406R and R96Q (Lin et al. 1991, Laflamme et al. 1996, Suzuki et al. 1998, Martin et al. 2003, Brooke et al. 2006). Mutations causing isolated 17,20-lyase deficiency are R358Q and R347H (Geller et al. 1997, Van den Akker et al. 2002).", "cellular_location": "cytosol, endoplasmic reticulum membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P05093-1" ], "evidence": [ { "id": "R-HSA-9035954", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9035954" } ] }, { "id": "R-HSA-9035956", "name": "Defective CYP17A1 does not cleave 17aHPROG", "equation": "", "summary": "Steroid 17-alpha-hydroxylase/17,20 lyase (CYP17A1) mediates both 17-alpha-hydroxylase and 17,20-lyase activity, allowing the adrenal glands and gonads to synthesise both 17-alpha-hydroxylated glucocorticoids and sex steroids respectively (Kagimoto et al. 1998). Defects in CYP17A1 can cause Adrenal hyperplasia 5 (AH5), a form of congenital adrenal hyperplasia (CAH), a common recessive disease due to defective synthesis of cortisol and sex steroids. Mutations causing combined 17-alpha-hydroxylase/17,20-lyase deficiency include S106P, R96W, W17*, R362C, W406R and R96Q (Lin et al. 1991, Laflamme et al. 1996, Suzuki et al. 1998, Martin et al. 2003, Brooke et al. 2006). Mutations causing isolated 17,20-lyase deficiency are R358Q and R347H (Geller et al. 1997, Van den Akker et al. 2002).", "cellular_location": "cytosol, endoplasmic reticulum membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P05093-1" ], "evidence": [ { "id": "R-HSA-9035956", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9035956" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-193055", "participant_name": "P4 [cytosol]", "crossref": [ { "id": "C00410", "database": "COMPOUND", "url": "" }, { "id": "2377", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "HMDB0001830", "database": "HMDB Metabolite", "url": "" }, { "id": "000004428529", "database": "ZINC", "url": "" }, { "id": "17026", "database": "ChEBI", "url": "" }, { "id": "C00410", "database": "COMPOUND", "url": "" }, { "id": "17026", "database": "ChEBI", "url": "" }, { "id": "2377", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "000004428529", "database": "ZINC", "url": "" }, { "id": "HMDB0001830", "database": "HMDB Metabolite", "url": "" }, { "id": "C00410", "database": "COMPOUND", "url": "" }, { "id": "2377", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "HMDB0001830", "database": "HMDB Metabolite", "url": "" }, { "id": "000004428529", "database": "ZINC", "url": "" }, { "id": "17026", "database": "ChEBI", "url": "" }, { "id": "C00410", "database": "COMPOUND", "url": "" }, { "id": "17026", "database": "ChEBI", "url": "" }, { "id": "2377", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "000004428529", "database": "ZINC", "url": "" }, { "id": "HMDB0001830", "database": "HMDB Metabolite", "url": "" }, { "id": "HMDB0001830", "database": "HMDB Metabolite", "url": "" }, { "id": "2377", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "C00410", "database": "COMPOUND", "url": "" }, { "id": "000004428529", "database": "ZINC", "url": "" }, { "id": "17026", "database": "ChEBI", "url": "" } ] }, { "participant_id": "R-ALL-193092", "participant_name": "17aHPROG [cytosol]", "crossref": [ { "id": "C01176", "database": "COMPOUND", "url": "" }, { "id": "17252", "database": "ChEBI", "url": "" }, { "id": "HMDB0000374", "database": "HMDB Metabolite", "url": "" }, { "id": "000005434436", "database": "ZINC", "url": "" }, { "id": "5104", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "C01176", "database": "COMPOUND", "url": "" }, { "id": "17252", "database": "ChEBI", "url": "" }, { "id": "HMDB0000374", "database": "HMDB Metabolite", "url": "" }, { "id": "000005434436", "database": "ZINC", "url": "" }, { "id": "5104", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "5104", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "HMDB0000374", "database": "HMDB Metabolite", "url": "" }, { "id": "C01176", "database": "COMPOUND", "url": "" }, { "id": "17252", "database": "ChEBI", "url": "" }, { "id": "000005434436", "database": "ZINC", "url": "" }, { "id": "C01176", "database": "COMPOUND", "url": "" }, { "id": "17252", "database": "ChEBI", "url": "" }, { "id": "HMDB0000374", "database": "HMDB Metabolite", "url": "" }, { "id": "000005434436", "database": "ZINC", "url": "" }, { "id": "5104", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "C01176", "database": "COMPOUND", "url": "" }, { "id": "17252", "database": "ChEBI", "url": "" }, { "id": "HMDB0000374", "database": "HMDB Metabolite", "url": "" }, { "id": "000005434436", "database": "ZINC", "url": "" }, { "id": "5104", "database": "Guide to Pharmacology - Ligands", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "P05093", "gene_name": "CYP17A1", "activity": [ { "ec_number": "1.14.14.19", "activity": "O2 + progesterone + reduced [NADPH--hemoprotein reductase] = 17alpha-hydroxyprogesterone + H(+) + H2O + oxidized [NADPH--hemoprotein reductase].", "evidence": [ { "id": "P05093", 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