{ "uniprot_canonical_ac": "O75881-1", "uniprot_ac": "O75881", "uniprot_id": "CP7B1_HUMAN", "mass": { "chemical_mass": 58256.0, "monoisotopic_mass": 58256.0 }, "refseq": { "ac": "NP_004811", "name": "cytochrome P450 7B1 isoform 1", "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 endoplasmic reticulum membrane protein catalyzes the first reaction in the cholesterol catabolic pathway of extrahepatic tissues, which converts cholesterol to bile acids. This enzyme likely plays a minor role in total bile acid synthesis, but may also be involved in the development of atherosclerosis, neurosteroid metabolism and sex hormone synthesis. Mutations in this gene have been associated with hereditary spastic paraplegia (SPG5 or HSP), an autosomal recessive disorder. [provided by RefSeq, Apr 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004811" }, "gene_names": [ { "name": "CYP7B1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75881", "id": "O75881" }, { "name": "CBAS3; CP7B; SPG5A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004811", "id": "NP_004811" }, { "name": "CYP7B1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004811", "id": "NP_004811" } ], "protein_names": [ { "name": "Cytochrome P450 7B1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75881" }, { "name": "1.14.14.26", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75881" }, { "name": "1.14.14.29", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75881" }, { "name": "24-hydroxycholesterol 7-alpha-hydroxylase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75881" }, { "name": "25/26-hydroxycholesterol 7-alpha-hydroxylase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75881" }, { "name": "3-hydroxysteroid 7-alpha hydroxylase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75881" }, { "name": "Oxysterol 7-alpha-hydroxylase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75881" }, { "name": "cytochrome P450 7B1 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004811", "id": "NP_004811" }, { "name": "cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1; 25-hydroxycholesterol 7-alpha-hydroxylase; cytochrome P450 7B1; oxysterol 7-alpha-hydroxylase; 3-hydroxysteroid 7-alpha hydroxylase; 24-hydroxycholesterol 7-alpha-hydroxylase; 25/26-hydroxycholesterol 7-alpha-hydroxylase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004811", "id": "NP_004811" } ], "function": [ { "annotation": "A cytochrome P450 monooxygenase involved in the metabolism of endogenous oxysterols and steroid hormones, including neurosteroids (PubMed:10588945, PubMed:24491228). 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:10588945, PubMed:24491228). Catalyzes the hydroxylation of carbon hydrogen bonds of steroids with a preference for 7-alpha position (PubMed:10588945, PubMed:24491228). Usually metabolizes steroids carrying a hydroxy group at position 3, functioning as a 3-hydroxy steroid 7-alpha hydroxylase (PubMed:24491228). Hydroxylates oxysterols, including 25-hydroxycholesterol and (25R)-cholest-5-ene-3beta,26-diol toward 7-alpha hydroxy derivatives, which may be transported to the liver and converted to bile acids (PubMed:9802883, PubMed:10588945). Via its product 7-alpha,25-dihydroxycholesterol, a ligand for the chemotactic G protein-coupled receptor GPR183/EBI2, regulates B cell migration in germinal centers of lymphoid organs, thus guiding efficient maturation of plasma B cells and overall antigen-specific humoral immune response (By similarity). 7-alpha hydroxylates neurosteroids, including 3beta-hydroxyandrost-5-en-17-one (dehydroepiandrosterone) and pregnenolone, both involved in hippocampus-associated memory and learning (PubMed:24491228). Metabolizes androstanoids toward 6- or 7-alpha hydroxy derivatives (PubMed:24491228).", "evidence": [ { "database": "UniProtKB", "id": "O75881", "url": "https://www.uniprot.org/uniprot/O75881#function" }, { "database": "PubMed", "id": "10588945", "url": "https://glygen.org/publication/PubMed/10588945" }, { "database": "UniProtKB", "id": "Q60991", "url": "https://www.uniprot.org/uniprot/Q60991#function" }, { "database": "PubMed", "id": "9802883", "url": "https://glygen.org/publication/PubMed/9802883" }, { "database": "PubMed", "id": "24491228", "url": "https://glygen.org/publication/PubMed/24491228" } ] }, { "annotation": "AKR1D1 and CYP7B1 mutations in patients with inborn errors of bile acid metabolism: Possibly underdiagnosed diseases.", "evidence": [ { "database": "RefSeq", "id": "NP_004811", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004811" }, { "database": "PubMed", "id": "31337596", "url": "https://glygen.org/publication/PubMed/31337596" } ] }, { "annotation": "Clinical characteristics of Taiwanese patients with Hereditary spastic paraplegia type 5.", "evidence": [ { "database": "RefSeq", "id": "NP_004811", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004811" }, { "database": "PubMed", "id": "32202070", "url": "https://glygen.org/publication/PubMed/32202070" } ] }, { "annotation": "Description of clinical features and genetic analysis of one ultra-rare (SPG64) and two common forms (SPG5A and SPG15) of hereditary spastic paraplegia families.", "evidence": [ { "database": "RefSeq", "id": "NP_004811", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004811" }, { "database": "PubMed", "id": "33771085", "url": "https://glygen.org/publication/PubMed/33771085" } ] }, { "annotation": "Phenoconversion from Spastic Paraplegia to ALS/FTD Associated with CYP7B1 Compound Heterozygous Mutations. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004811", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004811" }, { "database": "PubMed", "id": "34946825", "url": "https://glygen.org/publication/PubMed/34946825" } ] }, { "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 endoplasmic reticulum membrane protein catalyzes the first reaction in the cholesterol catabolic pathway of extrahepatic tissues, which converts cholesterol to bile acids. This enzyme likely plays a minor role in total bile acid synthesis, but may also be involved in the development of atherosclerosis, neurosteroid metabolism and sex hormone synthesis. Mutations in this gene have been associated with hereditary spastic paraplegia (SPG5 or HSP), an autosomal recessive disorder. [provided by RefSeq, Apr 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_004811", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004811" } ] } ], "disease": [ { "disease_id": "DOID:0110810", "recommended_name": { "id": "DOID:0110810", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110810", "name": "hereditary spastic paraplegia 5A", "description": "A hereditary spastic paraplegia that is characterized by progressive muscle weakness and paraplegia and has_material_basis_in mutation in the CYP7B1 gene on chromosome 8q12." }, "synonyms": [ { "id": "DOID:0110810", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110810", "name": "SPG5A", "description": "" }, { "id": "DOID:0110810", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110810", "name": "autosomal recessive spastic paraplegia 5A", "description": "" }, { "id": "DOID:0110810", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110810", "name": "autosomal recessive spastic paraplegia type 5A", "description": "" }, { "id": "MONDO:0010047", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010047", "name": "hereditary spastic paraplegia 5A", "description": "Autosomal recessive spastic paraplegia type 5A (SPG5A) is a form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients." }, { "id": "MONDO:0010047", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010047", "name": "CYP7B1 pure or complex autosomal recessive spastic paraplegia", "description": "" }, { "id": "MONDO:0010047", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010047", "name": "SPG5A", "description": "" }, { "id": "MONDO:0010047", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010047", "name": "autosomal recessive spastic paraplegia 5A", "description": "" }, { "id": "MONDO:0010047", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010047", "name": "autosomal recessive spastic paraplegia type 5A", "description": "" }, { "id": "MONDO:0010047", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010047", "name": "hereditary spastic paraplegia type 5A", "description": "" }, { "id": "MONDO:0010047", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010047", "name": "pure or complex autosomal recessive spastic paraplegia caused by mutation in CYP7B1", "description": "" }, { "id": "MONDO:0010047", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010047", "name": "spastic paraplegia type 5B, recessive", "description": "" }, { "id": "MONDO:0010047", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010047", "name": "autosomal recessive spastic paraplegia", "description": "" }, { "id": "MONDO:0010047", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010047", "name": "spastic paraplegia 5A", "description": "" }, { "id": "MONDO:0010047", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010047", "name": "spastic paraplegia 5A, autosomal recessive", "description": "" }, { "id": "MONDO:0010047", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010047", "name": "spastic paraplegia type 5A", "description": "" }, { "id": "MIM:270800", "resource": "MIM", "url": "https://www.omim.org/entry/270800", "name": "Spastic paraplegia 5A, autosomal recessive", "description": "Spastic paraplegia 5A, autosomal recessive" } ], "evidence": [ { "id": "270800", "database": "MIM", "url": "https://www.omim.org/entry/270800" } ] }, { "disease_id": "DOID:0111070", "recommended_name": { "id": "DOID:0111070", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111070", "name": "congenital bile acid synthesis defect 3", "description": "A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, and increased serum bilirubin that has_material_basis_in homozygous mutation in the CYP7B1 gene on chromosome 8q12." }, "synonyms": [ { "id": "DOID:0111070", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111070", "name": "CBAS3", "description": "" }, { "id": "DOID:0111070", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111070", "name": "oxysterol 7-alpha-hydroxylase deficiency", "description": "" }, { "id": "MONDO:0013439", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013439", "name": "congenital bile acid synthesis defect 3", "description": "Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis characterized by severe neonatal cholestatic liver disease." }, { "id": "MONDO:0013439", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013439", "name": "BASD3", "description": "" }, { "id": "MONDO:0013439", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013439", "name": "CBAS3", "description": "" }, { "id": "MONDO:0013439", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013439", "name": "CYP7B1 congenital bile acid synthesis defect", "description": "" }, { "id": "MONDO:0013439", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013439", "name": "bile acid synthesis defect, congenital, type 3", "description": "" }, { "id": "MONDO:0013439", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013439", "name": "congenital bile acid synthesis defect caused by mutation in CYP7B1", "description": "" }, { "id": "MONDO:0013439", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013439", "name": "congenital bile acid synthesis defect type 3", "description": "" }, { "id": "MONDO:0013439", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013439", "name": "oxysterol 7-alpha-hydroxylase deficiency", "description": "" }, { "id": "MONDO:0013439", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013439", "name": "bile acid synthesis defect, congenital, 3", "description": "" }, { "id": "MIM:613812", "resource": "MIM", "url": "https://www.omim.org/entry/613812", "name": "Congenital bile acid synthesis defect 3", "description": "Congenital bile acid synthesis defect 3" } ], "evidence": [ { "id": "613812", "database": "MIM", "url": "https://www.omim.org/entry/613812" } ] } ], "snv": [ { "evidence": [ { "id": "O75881", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75881" } ], "glycoeffect": [], "start_pos": 310, "end_pos": 310, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "8", "chr_pos": "64615154", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R310", "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": "" } ] }, { "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" } ] }, { "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, 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"database": "Bgee", "id": "ENSG00000172817", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172817" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "67.61", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000172817", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172817" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "71.28", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000172817", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172817" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75881", "url": 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"" }, { "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": 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"Human cholesterol side-chain cleavage enzyme, P450scc: cDNA cloning, assignment of the gene to chromosome 15, and expression in the placenta.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1986", "authors": "Chung BC, Matteson KJ, Voutilainen R, Mohandas TK, Miller WL", "evidence": [ { "database": "Reactome", "id": "R-HSA-211976", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211976" } ], "reference": [ { "type": "PubMed", "id": "3024157", "url": "https://glygen.org/publication/PubMed/3024157" } ] }, { "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-211976", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211976" } ], "reference": [ { "type": 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"https://www.ncbi.nlm.nih.gov/protein/NP_004811" } ], "reference": [ { "type": "PubMed", "id": "32202070", "url": "https://glygen.org/publication/PubMed/32202070" } ] }, { "title": "Description of clinical features and genetic analysis of one ultra-rare (SPG64) and two common forms (SPG5A and SPG15) of hereditary spastic paraplegia families.", "journal": "Journal of neurogenetics", "date": "2021", "authors": "Pashaei M, Davarzani A, Hajati R, Zamani B, Nafissi S, Larti F, Nilipour Y, Rohani M, Alavi A", "evidence": [ { "database": "RefSeq", "id": "NP_004811", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004811" } ], "reference": [ { "type": "PubMed", "id": "33771085", "url": "https://glygen.org/publication/PubMed/33771085" } ] }, { "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-211976", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211976" } ], "reference": [ { "type": "PubMed", "id": "3487786", "url": "https://glygen.org/publication/PubMed/3487786" } ] }, { "title": "Phenoconversion from Spastic Paraplegia to ALS/FTD Associated with CYP7B1 Compound Heterozygous Mutations.", "journal": "Genes", "date": "2021", "authors": "Theuriet J, Pegat A, Leblanc P, Vukusic S, Cazeneuve C, Millecamps S, Banneau G, Guillaud-Bataille M, Bernard E", "evidence": [ { "database": "RefSeq", "id": "NP_004811", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004811" } ], "reference": [ { "type": "PubMed", "id": "34946825", "url": "https://glygen.org/publication/PubMed/34946825" } ] }, { "title": "Cloning and expression of cDNA of human delta 4-3-oxosteroid 5 beta-reductase and substrate specificity of the expressed enzyme.", "journal": "European journal of biochemistry", "date": "1994", "authors": "Kondo KH, Kai MH, Setoguchi Y, Eggertsen G, Sjoblom P, Setoguchi T, Okuda KI, Bjorkhem I", "evidence": [ { "database": "Reactome", "id": "R-HSA-193368", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193368" } ], "reference": [ { "type": "PubMed", "id": "7508385", "url": "https://glygen.org/publication/PubMed/7508385" } ] }, { "title": "Purification and characterization of an alpha-methylacyl-CoA racemase from human liver.", "journal": "European journal of biochemistry", "date": "1995", "authors": "Schmitz W, Albers C, Fingerhut R, Conzelmann E", "evidence": [ { "database": "Reactome", "id": "R-HSA-193368", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193368" } ], "reference": [ { "type": "PubMed", "id": "7649182", "url": "https://glygen.org/publication/PubMed/7649182" } ] }, { "title": "Glycine and taurine conjugation of bile acids by a single enzyme. Molecular cloning and expression of human liver bile acid CoA:amino acid N-acyltransferase.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Falany CN, Johnson MR, Barnes S, Diasio RB", "evidence": [ { "database": "Reactome", "id": "R-HSA-193368", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193368" } ], "reference": [ { "type": "PubMed", "id": "8034703", "url": "https://glygen.org/publication/PubMed/8034703" } ] }, { "title": "The CoA esters of 2-methyl-branched chain fatty acids and of the bile acid intermediates di- and trihydroxycoprostanic acids are oxidized by one single peroxisomal branched chain acyl-CoA oxidase in human liver and kidney.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Vanhove GF, Van Veldhoven PP, Fransen M, Denis S, Eyssen HJ, Wanders RJ, Mannaerts GP", "evidence": [ { "database": "Reactome", "id": "R-HSA-193368", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193368" } ], "reference": [ { "type": "PubMed", "id": "8387517", "url": "https://glygen.org/publication/PubMed/8387517" } ] }, { "title": "The ubiquitously expressed human CYP51 encodes lanosterol 14 alpha-demethylase, a cytochrome P450 whose expression is regulated by oxysterols.", "journal": "Archives of biochemistry and biophysics", "date": "1996", "authors": "Stromstedt M, Rozman D, Waterman MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-211976", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211976" } ], "reference": [ { "type": "PubMed", "id": "8619637", "url": "https://glygen.org/publication/PubMed/8619637" } ] }, { "title": "Purification and properties of human D-3-hydroxyacyl-CoA dehydratase: medium-chain enoyl-CoA hydratase is D-3-hydroxyacyl-CoA dehydratase.", "journal": "Journal of biochemistry", "date": "1996", "authors": "Jiang LL, Kobayashi A, Matsuura H, Fukushima H, Hashimoto T", "evidence": [ { "database": "Reactome", "id": "R-HSA-193368", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193368" } ], "reference": [ { "type": "PubMed", "id": "8902629", "url": "https://glygen.org/publication/PubMed/8902629" } ] }, { "title": "Molecular characterization of the human peroxisomal branched-chain acyl-CoA oxidase: cDNA cloning, chromosomal assignment, tissue distribution, and evidence for the absence of the protein in Zellweger syndrome.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1996", "authors": "Baumgart E, Vanhooren JC, Fransen M, Marynen P, Puype M, Vandekerckhove J, Leunissen JA, Fahimi HD, Mannaerts GP, van Veldhoven PP", "evidence": [ { "database": "Reactome", "id": "R-HSA-193368", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193368" } ], "reference": [ { "type": "PubMed", "id": "8943006", "url": "https://glygen.org/publication/PubMed/8943006" } ] }, { "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-211976", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211976" } ], "reference": [ { "type": "PubMed", "id": "9536209", "url": "https://glygen.org/publication/PubMed/9536209" } ] }, { "title": "Expression of catalytically active human cytochrome p450scc in Escherichia coli and mutagenesis of isoleucine-462.", "journal": "Archives of biochemistry and biophysics", "date": "1998", "authors": "Woods ST, Sadleir J, Downs T, Triantopoulos T, Headlam MJ, Tuckey RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-211976", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211976" } ], "reference": [ { "type": "PubMed", "id": "9578606", "url": "https://glygen.org/publication/PubMed/9578606" } ] }, { "title": "Activities of recombinant human cytochrome P450c27 (CYP27) which produce intermediates of alternative bile acid biosynthetic pathways.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Pikuleva IA, Babiker A, Waterman MR, Bjorkhem I", "evidence": [ { "database": "Reactome", "id": "R-HSA-193368", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193368" } ], "reference": [ { "type": "PubMed", "id": "9660774", "url": "https://glygen.org/publication/PubMed/9660774" } ] }, { "title": "Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7alpha-hydroxylase gene causes severe neonatal liver disease.", "journal": "The Journal of clinical investigation", "date": "1998", "authors": "Setchell KD, Schwarz M, O'Connell NC, Lund EG, Davis DL, Lathe R, Thompson HR, Weslie Tyson R, Sokol RJ, Russell DW", "evidence": [ { "database": "UniProtKB", "id": "O75881", "url": "https://www.uniprot.org/uniprot/O75881" }, { "database": "Reactome", "id": "R-HSA-5579013", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5579013" } ], "reference": [ { "type": "PubMed", "id": "9802883", "url": "https://glygen.org/publication/PubMed/9802883" } ] }, { "title": "cDNA cloning of mouse and human cholesterol 25-hydroxylases, polytopic membrane proteins that synthesize a potent oxysterol regulator of lipid metabolism.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Lund EG, Kerr TA, Sakai J, Li WP, Russell DW", "evidence": [ { "database": "Reactome", "id": "R-HSA-192105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-192105" } ], "reference": [ { "type": "PubMed", "id": "9852097", "url": "https://glygen.org/publication/PubMed/9852097" } ] } ], "pathway": [ { "id": "hsa:9420", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9420", "resource": "KEGG Pathway" }, { "id": "R-HSA-192105", "name": "Synthesis of bile acids and bile salts", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-192105", "resource": "Reactome", "description": "Synthesis of 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"orthologs": [ { "uniprot_canonical_ac": "Q60991-1", "protein_name": "Cytochrome P450 7B1", "gene_name": "Cyp7b1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MQGATTLDAASPGPLALLGLLFAATLLLSALFLLTRRTRRPREPPLIKGWLPYLGMALKFFKDPLTFLKTLQRQHGDTFTVFLVGKYITFVLNPFQYQYVTKNPKQLSFQKFSSRLSAKAFSVKKLLTDDDLNEDVHRAYLLLQGKPLDALLETMIQEVKELFESQLLKITDWNTERIFAFCGSLVFEITFATLYGKILAGNKKQIISELRDDFFKFDDMFPYLVSDIPIQLLRNEESMQKKIIKCLTSEKVAQMQGQSKIVQERQDLLKRYYRHDDPEIGAHHLGFLWASLANTIPAMFWAMYYILRHPEAMEALRDEIDSFLQSTGQKKGPGISVHFTREQLDSLVCLESTILEVLRLCSYSSIIREVQEDMNLSLESKSFSLRKGDFVALFPPLIHNDPEIFDAPKEFRFDRFIEDGKKKSTFFKGGKKLKTYVMPFGLGTSKCPGRYFAVNEMKLLLIMLLTYFDLEIIDRKPIGLNHSRMFLGIQHPDSAVSFRYKAKSWRS", "length": 507 }, "evidence": [ { "id": "45927057", "url": "http://www.informatics.jax.org/homology/45927057", "database": "MGI" }, { "id": "O75881", "url": "https://omabrowser.org/oma/group/O75881/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q63688-1", "protein_name": "25-hydroxycholesterol 7-alpha-hydroxylase", "gene_name": "Cyp7b1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "ALEYQYVMKNPKQLSFEKFSRRLSAKAFSVKKLLTNDDLSNDIHRGYLLLQGKSLDGLLETMIQEVKEIFESRLLKLTDWNTARVFDFCSSLVFEITFTTIYGKILAANKKQIISELRDDFLKFDDHFPYLVSDIPIQLLRNAEFMQKKIIKCLTPEKVAQMQRRSEIVQERQEMLKKYYGHEEFEIGAHHLGLLWASLANTIPAMFWAMYYLLQHPEAMEVLRDEIDSFLQSTGQKKGPGISVHFTREQLDSLVCLESAILEVLRLCSYSSIIREVQEDMDFSSESRSYRLRKGDFVAVFPPMIHNDPEVFDAPKDFRFDRFVEDGKKKTTFFKGGKKLKSYIIPFGLGTSKCPGRYFAINEMKLLVIILLTYFDLEVIDTKPIGLNHSRMFLGIQHPDSDISFRYKAKSWRS", "length": 414 }, "evidence": [ { "id": "45927057", "url": "http://www.informatics.jax.org/homology/45927057", "database": "MGI" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 6, "go_terms": [ { "name": "oxysterol 7-alpha-hydroxylase activity", "id": "GO:0008396", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008396", "evidence": [ { "database": "UniProtKB", "id": "O75881", "url": "https://www.uniprot.org/uniprot/O75881" } ], "pmid": "" }, { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "O75881", "url": "https://www.uniprot.org/uniprot/O75881" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "O75881", "url": "https://www.uniprot.org/uniprot/O75881" } ], "pmid": "" }, { "name": "24-hydroxycholesterol 7alpha-hydroxylase activity", "id": "GO:0033782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033782", "evidence": [ { "database": "UniProtKB", "id": "O75881", "url": "https://www.uniprot.org/uniprot/O75881" } ], "pmid": "" }, { "name": "25-hydroxycholesterol 7alpha-hydroxylase activity", "id": "GO:0033783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033783", "evidence": [ { "database": "UniProtKB", "id": "O75881", "url": "https://www.uniprot.org/uniprot/O75881" } ], "pmid": "" }, { "name": "27-hydroxycholesterol 7-alpha-monooxygenase activity", "id": "GO:0047092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047092", "evidence": [ { "database": "UniProtKB", "id": "O75881", "url": "https://www.uniprot.org/uniprot/O75881" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 10, "go_terms": [ { "name": "bile acid biosynthetic process", "id": "GO:0006699", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006699", "evidence": [ { "database": "UniProtKB", "id": "O75881", "url": "https://www.uniprot.org/uniprot/O75881" } ], "pmid": "" }, { "name": "cholesterol metabolic process", "id": "GO:0008203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008203", "evidence": [ { "database": "UniProtKB", "id": "O75881", "url": "https://www.uniprot.org/uniprot/O75881" } ], "pmid": "" }, { "name": "cholesterol homeostasis", "id": "GO:0042632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042632", "evidence": [ { "database": "UniProtKB", "id": "O75881", "url": "https://www.uniprot.org/uniprot/O75881" } ], "pmid": "" }, { "name": "B cell chemotaxis", "id": "GO:0035754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035754", "evidence": [ { "database": "UniProtKB", "id": "O75881", "url": "https://www.uniprot.org/uniprot/O75881" } ], "pmid": "" }, { "name": "sterol metabolic process", "id": "GO:0016125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016125", "evidence": [ { "database": "UniProtKB", "id": "O75881", "url": "https://www.uniprot.org/uniprot/O75881" } ], "pmid": "" }, { "name": "prostate gland epithelium morphogenesis", "id": "GO:0060740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060740", "evidence": [ { "database": "UniProtKB", "id": "O75881", "url": "https://www.uniprot.org/uniprot/O75881" } ], "pmid": "" }, { "name": "positive regulation of epithelial cell proliferation", "id": "GO:0050679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050679", "evidence": [ { "database": "UniProtKB", "id": "O75881", "url": "https://www.uniprot.org/uniprot/O75881" } ], "pmid": "" }, { "name": "intracellular estrogen receptor signaling pathway", "id": "GO:0030520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030520", "evidence": [ { "database": "UniProtKB", "id": "O75881", "url": "https://www.uniprot.org/uniprot/O75881" } ], "pmid": "" }, { "name": "negative regulation of intracellular estrogen receptor signaling pathway", "id": "GO:0033147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033147", "evidence": [ { "database": "UniProtKB", "id": "O75881", "url": "https://www.uniprot.org/uniprot/O75881" } ], "pmid": "" }, { "name": "epithelial cell proliferation", "id": "GO:0050673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050673", "evidence": [ { "database": "UniProtKB", "id": "O75881", "url": "https://www.uniprot.org/uniprot/O75881" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 1, "go_terms": [ { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "O75881", "url": "https://www.uniprot.org/uniprot/O75881" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 483, "end_pos": 485, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "19041", "name": "", "equation": "(25R)-cholest-5-ene-3beta,26-diol + O2 + reduced [NADPH--hemoprotein reductase] = (25R)-cholest-5-en-3beta,7alpha,26-triol + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q63688-1", "O75881-1", "Q60991-1" ], "evidence": [ { "id": "19041", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/19041" } ] }, { "id": "24308", "name": "", "equation": "25-hydroxycholesterol + O2 + reduced [NADPH--hemoprotein reductase] = 7alpha,25-dihydroxycholesterol + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q63688-1", "O75881-1", "Q60991-1" ], "evidence": [ { "id": "24308", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/24308" } ] }, { "id": "43896", "name": "", "equation": "3beta-hydroxy-5alpha-androstan-17-one + O2 + reduced [NADPH--hemoprotein reductase] = 3beta,7alpha-dihydroxy-5alpha-androstan-17-one + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O75881-1", "Q60991-1" ], "evidence": [ { "id": "43896", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/43896" } ] }, { "id": "46124", "name": "", "equation": "(24S)-hydroxycholesterol + O2 + reduced [NADPH--hemoprotein reductase] = (24S)-7alpha-dihydroxycholesterol + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P18125-1", "Q9NYL5-1", "O75881-1", "P22680-1", "Q60991-1", "Q64505-1", "Q9JKJ9-1" ], "evidence": [ { "id": "46124", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/46124" } ] }, { "id": "46192", "name": "", "equation": "3beta-hydroxyandrost-5-en-17-one + O2 + reduced [NADPH--hemoprotein reductase] = 3beta,7alpha-dihydroxyandrost-5-en-17-one + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O75881-1", "Q60991-1" ], "evidence": [ { "id": "46192", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/46192" } ] }, { "id": "46196", "name": "", "equation": "O2 + pregnenolone + reduced [NADPH--hemoprotein reductase] = 7alpha-hydroxypregnenolone + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O75881-1", "Q60991-1" ], "evidence": [ { "id": "46196", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/46196" } ] }, { "id": "46200", "name": "", "equation": "5alpha-androstane-3beta,17beta-diol + O2 + reduced [NADPH--hemoprotein reductase] = 5alpha-androstane-3beta,6alpha,17beta-triol + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O75881-1", "Q60991-1" ], "evidence": [ { "id": "46200", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/46200" } ] }, { "id": "46204", "name": "", "equation": "androst-5-en-3beta,17beta-diol + O2 + reduced [NADPH--hemoprotein reductase] = androst-5-en-3beta,7alpha,17beta-triol + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O75881-1", "Q60991-1" ], "evidence": [ { "id": "46204", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/46204" } ] }, { "id": "46460", "name": "", "equation": "(22R)-hydroxycholesterol + O2 + reduced [NADPH--hemoprotein reductase] = (22R,7alpha)-dihydroxycholesterol + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O75881-1", "Q60991-1" ], "evidence": [ { "id": "46460", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/46460" } ] }, { "id": "46464", "name": "", "equation": "(24S)-25-epoxycholesterol + O2 + reduced [NADPH--hemoprotein reductase] = (24S,25)-epoxy-7alpha-hydroxycholesterol + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O75881-1", "Q60991-1" ], "evidence": [ { "id": "46464", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/46464" } ] }, { "id": "R-HSA-191972", "name": "27-hydroxycholesterol is 7alpha-hydroxylated", "equation": "", "summary": "27-hydroxycholesterol, NADPH + H+, and O2 react to form cholest-5-ene-3beta,7alpha,27-triol, H2O, and NADP+. This reaction is catalyzed by CYP7B1 in the endoplasmic reticulum membrane. Defects in CYB7B1 are associated with failure of 7alpha-hydroxylation in vivo, and with liver damage, confirming both the function of the enzyme and the central role of the liver in this metabolic process (Setchell et al. 1998).", "cellular_location": "cytosol, endoplasmic reticulum membrane", "input_participant_list": [ "R-ALL-176617" ], "output_participant_list": [], "enzyme_list": [ "O75881-1", "P22680-1", "Q15788-1" ], "evidence": [ { "id": "R-HSA-191972", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-191972" } ] }, { "id": "R-HSA-192051", "name": "CYP7A1 7-hydroxylates CHOL", "equation": "", "summary": "Cholesterol, NADPH + H+, and O2 form 7alpha-cholesterol (5-cholesten-3beta, 7alpha-diol), NADP+,and H2O, in a reaction catalysed by CYP7A1 (cholesterol 7alpha-hydroylase) in the endoplasmic reticulum membrane. In the body, this enzyme is expressed only in liver, and its expression is tightly regulated at the level of transcription to determine the overall rate of bile acid and bile salt production (Noshiro et al. 1990).", "cellular_location": "cytosol, endoplasmic reticulum membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O75881-1", "P22680-1", "Q15788-1" ], "evidence": [ { "id": "R-HSA-192051", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-192051" } ] }, { "id": "R-HSA-192065", "name": "CYP7B1 7-hydroxylates 25OH-CHOL", "equation": "", "summary": "25-hydroxycholesterol (25OH-CHOL) is 7alpha-hydroxylated to cholest-5-ene-3beta,7alpha,25-triol (CHOL3b,7a,25TRIOL) by CYP7B1 (cytochrome P450 7B1) (Wu et al. 1999).", "cellular_location": "cytosol, endoplasmic reticulum membrane", "input_participant_list": [ "R-ALL-192148" ], "output_participant_list": [ "R-ALL-192184" ], "enzyme_list": [ "O75881-1", "P22680-1", "Q15788-1" ], "evidence": [ { "id": "R-HSA-192065", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-192065" } ] }, { "id": "R-HSA-5602885", "name": "Defective CYP7B1 does not 7-hydroxylate 25OH-CHOL", "equation": "", "summary": "25-hydroxycholesterol 7-alpha-hydroxylase (CYP7B1) normally 7alpha-hydroxylates 25-hydroxycholesterol (25OH-CHOL) to cholest-5-ene-3beta,7alpha,25-triol (CHOL3b,7a,25TRIOL). Defects in CYP7B1 can cause spastic paraplegia 5A, autosomal recessive (SPG5A; MIM:270800), a neurodegenerative disorder characterised by a slow, gradual, progressive weakness and spasticity of the lower limbs (Tsaousidou et al. 2008). Mutations causing SPG5A include S363F, G57R, R417H, F216S, Y275*, F470I, G87V and T297A (Tsaousidou et al. 2008, Schule et al. 2009, Goizet et al. 2009, Arnoldi et al. 2012). Defects in CYP7B1 can also cause congenital bile acid synthesis defect 3 (CBAS3; MIM:613812), a disorder resulting in severe cholestasis, cirrhosis and liver synthetic failure. Hepatic CYP7B1 activity is undetectable (Setchell et al. 1998). A mutation causing CBAS3 is R388* (Setchell et al. 1998).", "cellular_location": "cytosol, endoplasmic reticulum membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O75881-1" ], "evidence": [ { "id": "R-HSA-5602885", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5602885" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-176617", "participant_name": "27HCHOL [endoplasmic reticulum membrane]", "crossref": [ { "id": "17703", "database": "ChEBI", "url": "" }, { "id": "000004097086", "database": "ZINC", "url": "" }, { "id": "000004097085", "database": "ZINC", "url": "" }, { "id": "C06340", "database": "COMPOUND", "url": "" }, { "id": "8144045", "database": "PubChem Substance", "url": "" }, { "id": "C06340", "database": "COMPOUND", "url": "" }, { "id": "17703", "database": "ChEBI", "url": "" }, { "id": "8144045", "database": "PubChem Substance", "url": "" }, { "id": "000004097086", "database": "ZINC", "url": "" }, { "id": "000004097085", "database": "ZINC", "url": "" }, { "id": "C06340", "database": "COMPOUND", "url": "" }, { "id": "17703", "database": "ChEBI", "url": "" }, { "id": "8144045", "database": "PubChem Substance", "url": "" }, { "id": "000004097086", "database": "ZINC", "url": "" }, { "id": "000004097085", "database": "ZINC", "url": "" }, { "id": "C06340", "database": "COMPOUND", "url": "" }, { "id": "8144045", "database": "PubChem Substance", "url": "" }, { "id": "000004097085", "database": "ZINC", "url": "" }, { "id": "17703", "database": "ChEBI", "url": "" }, { "id": "000004097086", "database": "ZINC", "url": "" }, { "id": "17703", "database": "ChEBI", "url": "" }, { "id": "000004097086", "database": "ZINC", "url": "" }, { "id": "000004097085", "database": "ZINC", "url": "" }, { "id": "8144045", "database": "PubChem Substance", "url": "" }, { "id": "C06340", "database": "COMPOUND", "url": "" } ] }, { "participant_id": "R-ALL-192148", "participant_name": "25OH-CHOL [cytosol]", "crossref": [ { "id": "2885", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "C15519", "database": "COMPOUND", "url": "" }, { "id": "42977", "database": "ChEBI", "url": "" }, { "id": "000005751264", "database": "ZINC", "url": "" }, { "id": "C15519", "database": "COMPOUND", "url": "" }, { "id": "42977", "database": "ChEBI", "url": "" }, { "id": "2885", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "000005751264", "database": "ZINC", "url": "" }, { "id": "C15519", "database": "COMPOUND", "url": "" }, { "id": "42977", "database": "ChEBI", "url": "" }, { "id": "2885", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "000005751264", "database": "ZINC", "url": "" }, { "id": "C15519", "database": "COMPOUND", "url": "" }, { "id": "42977", "database": "ChEBI", "url": "" }, { "id": "2885", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "000005751264", "database": "ZINC", "url": "" }, { "id": "C15519", "database": "COMPOUND", "url": "" }, { "id": "42977", "database": "ChEBI", "url": "" }, { "id": "2885", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "000005751264", "database": "ZINC", "url": "" }, { "id": "C15519", "database": "COMPOUND", "url": "" }, { "id": "42977", "database": "ChEBI", "url": "" }, { "id": "2885", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "000005751264", "database": "ZINC", "url": "" } ] }, { "participant_id": "R-ALL-192184", "participant_name": "CHOL3b,7a,25TRIOL [cytosol]", "crossref": [ { "id": "37623", "database": "ChEBI", "url": "" }, { "id": "000006036327", "database": "ZINC", "url": "" }, { "id": "4350", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "4350", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "37623", "database": "ChEBI", "url": "" }, { "id": "000006036327", "database": "ZINC", "url": "" }, { "id": "000006036327", "database": "ZINC", "url": "" }, { "id": "4350", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "37623", "database": "ChEBI", "url": "" }, { "id": "37623", "database": "ChEBI", "url": "" }, { "id": "000006036327", "database": "ZINC", "url": "" }, { "id": "4350", "database": "Guide to Pharmacology - Ligands", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "O75881", "gene_name": "CYP7B1", "activity": [ { "ec_number": "1.14.14.26", "activity": "(24S)-hydroxycholesterol + O2 + reduced [NADPH--hemoprotein reductase] = (24S)-7alpha-dihydroxycholesterol + H(+) + H2O + oxidized [NADPH--hemoprotein reductase].", "evidence": [ { "id": "O75881", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75881" } ] }, { "ec_number": "1.14.14.29", "activity": "25-hydroxycholesterol + O2 + reduced [NADPH--hemoprotein reductase] = 7alpha,25-dihydroxycholesterol + H(+) + H2O + oxidized [NADPH--hemoprotein reductase].", "evidence": [ { "id": "O75881", "database": "UniProtKB", "url": 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