{ "uniprot_canonical_ac": "P11509-1", "uniprot_ac": "P11509", "uniprot_id": "CP2A6_HUMAN", "mass": { "chemical_mass": 56517.0, "monoisotopic_mass": 56517.0 }, "refseq": { "ac": "NP_000753", "name": "cytochrome P450 2A6", "summary": "This gene, CYP2A6, 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 and its expression is induced by phenobarbital. The enzyme is known to hydroxylate coumarin, and also metabolizes nicotine, aflatoxin B1, nitrosamines, and some pharmaceuticals. Individuals with certain allelic variants are said to have a poor metabolizer phenotype, meaning they do not efficiently metabolize coumarin or nicotine. This gene is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. The gene was formerly referred to as CYP2A3; however, it has been renamed CYP2A6. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000753" }, "gene_names": [ { "name": "CYP2A6", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P11509", "id": "P11509" }, { "name": "CPA6; CYP2A; CYP2A3; CYPIIA6; P450C2A; P450PB", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000753", "id": "NP_000753" }, { "name": "CYP2A3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P11509", "id": "P11509" }, { "name": "CYP2A6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000753", "id": "NP_000753" } ], "protein_names": [ { "name": "Cytochrome P450 2A6", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P11509" }, { "name": "1,4-cineole 2-exo-monooxygenase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11509" }, { "name": "1.14.14.-", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11509" }, { "name": "CYPIIA6", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11509" }, { "name": "Coumarin 7-hydroxylase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11509" }, { "name": "Cytochrome P450 IIA3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11509" }, { "name": "Cytochrome P450(I)", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11509" }, { "name": "cytochrome P450 2A6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000753", "id": "NP_000753" }, { "name": "xenobiotic monooxygenase; flavoprotein-linked monooxygenase; coumarin 7-hydroxylase; cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6; cytochrome P450(I); cytochrome P450 IIA3; 1,4-cineole 2-exo-monooxygenase; cytochrome P450, family 2, subfamily A, polypeptide 6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000753", "id": "NP_000753" } ], "function": [ { "annotation": "Accuracy and applications of sequencing and genotyping approaches for CYP2A6 and homologous genes.", "evidence": [ { "database": "RefSeq", "id": "NP_000753", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000753" }, { "database": "PubMed", "id": "35190513", "url": "https://glygen.org/publication/PubMed/35190513" } ] }, { "annotation": "CYP2A6 gene polymorphism and severity of coronary atherosclerosis in Indonesian male smokers: A pilot study.", "evidence": [ { "database": "RefSeq", "id": "NP_000753", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000753" }, { "database": "PubMed", "id": "36123879", "url": "https://glygen.org/publication/PubMed/36123879" } ] }, { "annotation": "Cigarette Smoking and Intracranial Aneurysms: A Pilot Analysis of SNPs in the CYP2A6 Gene in the Italian Population.", "evidence": [ { "database": "RefSeq", "id": "NP_000753", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000753" }, { "database": "PubMed", "id": "37689358", "url": "https://glygen.org/publication/PubMed/37689358" } ] }, { "annotation": "Exhibits a high coumarin 7-hydroxylase activity. Can act in the hydroxylation of the anti-cancer drugs cyclophosphamide and ifosphamide. Competent in the metabolic activation of aflatoxin B1. Constitutes the major nicotine C-oxidase. Acts as a 1,4-cineole 2-exo-monooxygenase. Possesses low phenacetin O-deethylation activity.", "evidence": [ { "database": "UniProtKB", "id": "P11509", "url": "https://www.uniprot.org/uniprot/P11509#function" }, { "database": "PubMed", "id": "1944238", "url": "https://glygen.org/publication/PubMed/1944238" }, { "database": "PubMed", "id": "16086027", "url": "https://glygen.org/publication/PubMed/16086027" }, { "database": "PubMed", "id": "11695850", "url": "https://glygen.org/publication/PubMed/11695850" }, { "database": "PubMed", "id": "1889415", "url": "https://glygen.org/publication/PubMed/1889415" }, { "database": "PubMed", "id": "17125252", "url": "https://glygen.org/publication/PubMed/17125252" }, { "database": "PubMed", "id": "18779312", "url": "https://glygen.org/publication/PubMed/18779312" } ] }, { "annotation": "Genotyping, characterization, and imputation of known and novel CYP2A6 structural variants using SNP array data.", "evidence": [ { "database": "RefSeq", "id": "NP_000753", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000753" }, { "database": "PubMed", "id": "37059825", "url": "https://glygen.org/publication/PubMed/37059825" } ] }, { "annotation": "Recurrent CYP2A6 gene mutation in biphasic hyalinizing psammomatous renal cell carcinoma: Additional support of three cases.", "evidence": [ { "database": "RefSeq", "id": "NP_000753", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000753" }, { "database": "PubMed", "id": "37104959", "url": "https://glygen.org/publication/PubMed/37104959" } ] }, { "annotation": "This gene, CYP2A6, 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 and its expression is induced by phenobarbital. The enzyme is known to hydroxylate coumarin, and also metabolizes nicotine, aflatoxin B1, nitrosamines, and some pharmaceuticals. Individuals with certain allelic variants are said to have a poor metabolizer phenotype, meaning they do not efficiently metabolize coumarin or nicotine. This gene is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. The gene was formerly referred to as CYP2A3; however, it has been renamed CYP2A6. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000753", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000753" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "P11509", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P11509" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 225, "end_pos": 225, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "40847032", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S225", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix uteri cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID:1115", "recommended_name": { "id": "DOID:1115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1115", "name": "sarcoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm." }, "synonyms": [ { "id": "DOID:1115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1115", "name": "connective and soft tissue neoplasm", "description": "" }, { "id": "DOID:1115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1115", "name": "tumor of soft tissue and skeleton", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [ { "start_pos": 208, "end_pos": 208, "sequence_org": "I", "sequence_mut": "S", "comment": "Increases phenacetin O-deethylation activity 10 fold; when associated with F-300 and A-301. Increases phenacetin O-deethylation activity 38 fold; when associated with F-300; A-301 and G-369.", "evidence": [ { "database": "UniProtKB", "id": "P11509", "url": "https://www.uniprot.org/uniprot/P11509" }, { "database": "PubMed", "id": "18779312", "url": "https://glygen.org/publication/PubMed/18779312" } ] }, { "start_pos": 213, "end_pos": 213, "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on phenacetin O-deethylation activity.", "evidence": [ { "database": "UniProtKB", "id": "P11509", "url": "https://www.uniprot.org/uniprot/P11509" }, { "database": "PubMed", "id": "18779312", "url": "https://glygen.org/publication/PubMed/18779312" } ] }, { "start_pos": 300, "end_pos": 300, "sequence_org": "I", "sequence_mut": "F", "comment": "Increases phenacetin O-deethylation activity 3 fold. Increases phenacetin O-deethylation activity 8 fold; when associated with A-301. Increases phenacetin O-deethylation activity 10 fold; when associated with S-208 and A-301. Increases phenacetin O-deethylation activity 12 fold; when associated with A-301 and G-369. Increases phenacetin O-deethylation activity 38 fold; when associated with S-208; A-301 and G-369.", "evidence": [ { "database": "UniProtKB", "id": "P11509", "url": "https://www.uniprot.org/uniprot/P11509" }, { "database": "PubMed", "id": "18779312", "url": "https://glygen.org/publication/PubMed/18779312" } ] }, { "start_pos": 301, "end_pos": 301, "sequence_org": "G", "sequence_mut": "A", "comment": "Slightly decreases phenacetin O-deethylation activity. Increases phenacetin O-deethylation activity 8 fold; when associated with F-300. Increases phenacetin O-deethylation activity 10 fold; when associated with S-208 and F-300. Increases phenacetin O-deethylation activity 12 fold; when associated with F-300 and G-369. Increases phenacetin O-deethylation activity 38 fold; when associated with S-208; F-300 and G-369.", "evidence": [ { "database": "UniProtKB", "id": "P11509", "url": "https://www.uniprot.org/uniprot/P11509" }, { "database": "PubMed", "id": "18779312", "url": "https://glygen.org/publication/PubMed/18779312" } ] }, { "start_pos": 369, "end_pos": 369, "sequence_org": "S", "sequence_mut": "G", "comment": "Increases phenacetin O-deethylation activity 3 fold. Increases phenacetin O-deethylation activity 38 fold; when associated with S-208; F-300 and A-301.", "evidence": [ { "database": "UniProtKB", "id": "P11509", "url": "https://www.uniprot.org/uniprot/P11509" }, { "database": "PubMed", "id": "18779312", "url": "https://glygen.org/publication/PubMed/18779312" } ] }, { "start_pos": 372, "end_pos": 372, "sequence_org": "R", "sequence_mut": "H", "comment": "Increases phenacetin O-deethylation activity 2 fold.", "evidence": [ { "database": "UniProtKB", "id": "P11509", "url": "https://www.uniprot.org/uniprot/P11509" }, { "database": "PubMed", "id": "18779312", "url": "https://glygen.org/publication/PubMed/18779312" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "58.24", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000255974", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000255974" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "69.28", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000255974", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000255974" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "63.19", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000255974", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000255974" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "82.22", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000255974", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000255974" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "53.26", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000255974", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000255974" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "42.29", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000255974", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000255974" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "80.53", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000255974", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000255974" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, 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"Cytochrome P450 2E1 is the primary enzyme responsible for low-dose carbon tetrachloride metabolism in human liver microsomes.", "journal": "Chemico-biological interactions", "date": "2000", "authors": "Zangar RC, Benson JM, Burnett VL, Springer DL", "evidence": [ { "database": "Reactome", "id": "R-HSA-211999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211999" } ], "reference": [ { "type": "PubMed", "id": "10731522", "url": "https://glygen.org/publication/PubMed/10731522" } ] }, { "title": "Contribution of CYP2E1 and CYP3A to acetaminophen reactive metabolite formation.", "journal": "Clinical pharmacology and therapeutics", "date": "2000", "authors": "Manyike PT, Kharasch ED, Kalhorn TF, Slattery JT", "evidence": [ { "database": "Reactome", "id": "R-HSA-211999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211999" } ], "reference": [ { "type": "PubMed", "id": "10741631", "url": "https://glygen.org/publication/PubMed/10741631" } ] }, { "title": "A novel single nucleotide polymorphism altering stability and activity of CYP2a6.", "journal": "Biochemical and biophysical research communications", "date": "2001", "authors": "Ariyoshi N, Sawamura Y, Kamataki T", "evidence": [ { "database": "UniProtKB", "id": "P11509", "url": "https://www.uniprot.org/uniprot/P11509" } ], "reference": [ { "type": "PubMed", "id": "11237731", "url": "https://glygen.org/publication/PubMed/11237731" } ] }, { "title": "CYP2A6*6, a novel polymorphism in cytochrome p450 2A6, has a single amino acid substitution (R128Q) that inactivates enzymatic activity.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Kitagawa K, Kunugita N, Kitagawa M, Kawamoto T", "evidence": [ { "database": "UniProtKB", "id": "P11509", "url": "https://www.uniprot.org/uniprot/P11509" } ], "reference": [ { "type": "PubMed", "id": "11278503", "url": "https://glygen.org/publication/PubMed/11278503" } ] }, { "title": "Roles of cytochrome P450 3A enzymes in the 2-hydroxylation 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"PubMed", "id": "8975785", "url": "https://glygen.org/publication/PubMed/8975785" } ] }, { "title": "Ethanol metabolism, cirrhosis and alcoholism.", "journal": "Clinica chimica acta; international journal of clinical chemistry", "date": "1997", "authors": "Lieber CS", "evidence": [ { "database": "Reactome", "id": "R-HSA-211999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211999" } ], "reference": [ { "type": "PubMed", "id": "9028626", "url": "https://glygen.org/publication/PubMed/9028626" } ] }, { "title": "Cytochrome P450 2E1 is the principal catalyst of human oxidative halothane metabolism in vitro.", "journal": "The Journal of pharmacology and experimental therapeutics", "date": "1997", "authors": "Spracklin DK, Hankins DC, Fisher JM, Thummel KE, Kharasch ED", "evidence": [ { "database": "Reactome", "id": "R-HSA-211999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211999" } ], "reference": [ { "type": "PubMed", "id": "9103523", "url": "https://glygen.org/publication/PubMed/9103523" } ] }, { "title": "A single amino acid substitution (Leu160His) in cytochrome P450 CYP2A6 causes switching from 7-hydroxylation to 3-hydroxylation of coumarin.", "journal": "Food and chemical toxicology : an international journal published for the British Industrial Biological Research Association", "date": "1997", "authors": "Hadidi H, Zahlsen K, Idle JR, Cholerton S", "evidence": [ { "database": "UniProtKB", "id": "P11509", "url": "https://www.uniprot.org/uniprot/P11509" } ], "reference": [ { "type": "PubMed", "id": "9409631", "url": "https://glygen.org/publication/PubMed/9409631" } ] }, { "title": "Steroid hydroxylation by human fetal CYP3A7 and human NADPH-cytochrome P450 reductase coexpressed in insect cells using baculovirus.", "journal": "Research communications in molecular pathology and pharmacology", "date": "1998", "authors": "Ohmori S, Fujiki N, Nakasa H, Nakamura H, Ishii I, Itahashi K, Kitada M", "evidence": [ { "database": "Reactome", "id": "R-HSA-211981", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211981" } ], "reference": [ { "type": "PubMed", "id": "9644715", "url": "https://glygen.org/publication/PubMed/9644715" } ] }, { "title": "Human liver microsomal metabolism of paclitaxel and drug interactions.", "journal": "European journal of drug metabolism and pharmacokinetics", "date": "1998", "authors": "Desai PB, Duan JZ, Zhu YW, Kouzi S", "evidence": [ { "database": "Reactome", "id": "R-HSA-211981", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211981" } ], "reference": [ { "type": "PubMed", "id": "9842986", "url": "https://glygen.org/publication/PubMed/9842986" } ] }, { "title": "Respective roles of human cytochrome P-4502E1, 1A2, and 3A4 in the hepatic microsomal ethanol oxidizing system.", "journal": "Alcoholism, clinical and experimental research", "date": "1998", "authors": "Salmela KS, Kessova IG, Tsyrlov IB, Lieber CS", "evidence": [ { "database": "Reactome", "id": "R-HSA-211999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211999" } ], "reference": [ { "type": "PubMed", "id": "9884161", "url": "https://glygen.org/publication/PubMed/9884161" } ] } ], "pathway": [ { "id": "hsa:1548", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:1548", "resource": "KEGG Pathway" }, { "id": "R-HSA-211981", "name": "Xenobiotics", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211981", "resource": "Reactome", "description": "Xenobiotics" }, { "id": "R-HSA-211999", "name": "CYP2E1 reactions", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211999", "resource": "Reactome", "description": "CYP2E1 reactions" } ], "orthologs": [ { "uniprot_canonical_ac": "P15392-1", "protein_name": "Cytochrome P450 2A4", "gene_name": "Cyp2a4", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MLTSGLLLVAAVAFLSVLVLMSVWKQRKLSGKLPPGPTPLPFVGNFLQLNTEQMYNSLMKISQRYGPVFTIYLGSRRIVVLCGQETVKEALVDQAEEFSGRGEQATFDWLFKGYGIAFSSGERAKQLRRFSITTLRDFGVGKRGIEERIQEEAGFLIDSFRKTNGAFIDPTFYLSRTVSNVISSIVFGDRFDYEDKEFLSLLRMMLGSLQFTATSMGQVYEMFSSVMKHLPGPQQQAFKELQGLEDFITKKVEHNQRTLDPNSPRDFIDSFLIRMLEEKKNPNTEFYMKNLVLTTLNLFFAGTETVSTTLRYGFLLLMKYPDIEAKVHEEIDRVIGRNRQPKYEDRMKMPYTEAVIHEIQRFADLIPMGLARRVTKDTKFRDFLLPKGTEVFPMLGSVLKDPKFFSNPKDFNPKHFLDDKGQFKKSDAFVPFSIGKRYCFGEGLARMELFLFLTNIMQNFHFKSTQEPQDIDVSPRLVGFVTIPPTYTMSFLSR", "length": 494 }, "evidence": [ { "id": "45923536", "url": "http://www.informatics.jax.org/homology/45923536", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "P20812-1", "protein_name": "Cytochrome P450 2A3", "gene_name": "Cyp2a3", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MLASGLLLVASVAFLSVLVLMSVWKQRKLSGKLPPGPTPLPFIGNYLQLNTEKMYSSLMKISQRYGPVFTIHLGPRRVVVLCGQEAVKEALVDQAEEFSGRGEQATFDWLFKGYGVAFSSGERAKQLRRFSIATLRDFGVGKRGIEERIQEEAGFLIESFRKTNGALIDPTFYLSRTVSNVISSIVFGDRFDYEDKEFLSLLRMMLGSFQFTATSTGQLYEMFSSVMKHLPGPQQQAFKELQGLEDFITKKVEQNQRTLDPNSPRDFIDSFLIRMLEEKKNPNTEFYMKNLVLTTLNLFFAGTETVSTTLRYGFLLLMKHPDIEAKVHEEIDRVIGRNRQAKYEDRMKMPYTEAVIHEIQRFADMIPMGLARRVTKDTKFREFLLPKGTEVFPMLGSVLKDPKFFSNPNDFNPKHFLDDKGQFKKSDAFVPFSIGKRYCFGEGLARMELFLFLTNIMQNFCFKSPQAPQDIDVSPRLVGFATIPPNYTMSFLSR", "length": 494 }, "evidence": [ { "id": "45923526", "url": "http://www.informatics.jax.org/homology/45923526", "database": "MGI" }, { "id": "45923536", "url": "http://www.informatics.jax.org/homology/45923536", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P20852-1", "protein_name": "Cytochrome P450 2A5", "gene_name": "Cyp2a5", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MLTSGLLLVAAVAFLSVLVLMSVWKQRKLSGKLPPGPTPLPFIGNFLQLNTEQMYNSLMKISQRYGPVFTIYLGPRRIVVLCGQEAVKEALVDQAEEFSGRGEQATFDWLFKGYGVVFSSGERAKQLRRFSIATLRDFGVGKRGIEERIQEEAGFLIDSFRKTNGAFIDPTFYLSRTVSNVISSIVFGDRFDYEDKEFLSLLRMMLGSFQFTATSMGQLYEMFSSVMKHLPGPQQQAFKELQGLEDFITKKVEHNQRTLDPNSPRDFIDSFLIRMLEEKKNPNTEFYMKNLVLTTLNLFFAGTETVSTTLRYGFLLLMKHPDIEAKVHEEIDRVIGRNRQPKYEDRMKMPYTEAVIHEIQRFADMIPMGLARRVTKDTKFRDFLLPKGTEVFPMLGSVLKDPKFFSNPKDFNPKHFLDDKGQFKKNDAFVPFSIGKRYCFGEGLARMELFLFLTNIMQNFHFKSTQAPQDIDVSPRLVGFATIPPTYTMSFLSR", "length": 494 }, "evidence": [ { "id": "45923526", "url": "http://www.informatics.jax.org/homology/45923526", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "P20853-1", "protein_name": "Cytochrome P450 2A7", "gene_name": "CYP2A7", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MLASGLLLVALLACLTVMVLMSVWQQRKSRGKLPPGPTPLPFIGNYLQLNTEHICDSIMKFSECYGPVFTIHLGPRRVVVLCGHDAVREALVDQAEEFSGRGEQATFDWVFKGYGVAFSNGERAKQLLRFAIATLRDFGVGKRGIEERIQEESGFLIEAIRSTHGANIDPTFFLSRTVSNVISSIVFGDRFDYEDKEFLSLLSMMLGIFQFTSTSTGQLYEMFSSVMKHLPGPQQQAFKLLQGLEDFIAKKVEHNQRTLDPNSPQDFIDSFLIHMQEEEKNPNTEFYLKNLMMSTLNLFIAGTETVSTTLRYGFLLLMKHPEVEAKVHEEIDRVIGKNRQPKFEDRTKMPYMEAVIHEIQRFGDVIPMSLARRVKKDTKFRDFFLPKGTEVFPMLGSVLRDPSFFSNPQDFNPQHFLDDKGQFKKSDAFVPFSIGKRNCFGEGLARMELFLFFTTVMQNFRLKSSQSPKDIDVSPKHVVFATIPRNYTMSFLPR", "length": 494 }, "evidence": [ { "id": "45923526", "url": "http://www.informatics.jax.org/homology/45923526", "database": "MGI" }, { "id": "45923536", "url": "http://www.informatics.jax.org/homology/45923536", "database": "MGI" } ], "common_name": "Human" }, { "uniprot_canonical_ac": "Q16696-1", "protein_name": "Cytochrome P450 2A13", "gene_name": "CYP2A13", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MLASGLLLVTLLACLTVMVLMSVWRQRKSRGKLPPGPTPLPFIGNYLQLNTEQMYNSLMKISERYGPVFTIHLGPRRVVVLCGHDAVKEALVDQAEEFSGRGEQATFDWLFKGYGVAFSNGERAKQLRRFSIATLRGFGVGKRGIEERIQEEAGFLIDALRGTHGANIDPTFFLSRTVSNVISSIVFGDRFDYEDKEFLSLLRMMLGSFQFTATSTGQLYEMFSSVMKHLPGPQQQAFKELQGLEDFIAKKVEHNQRTLDPNSPRDFIDSFLIRMQEEEKNPNTEFYLKNLVMTTLNLFFAGTETVSTTLRYGFLLLMKHPEVEAKVHEEIDRVIGKNRQPKFEDRAKMPYTEAVIHEIQRFGDMLPMGLAHRVNKDTKFRDFFLPKGTEVFPMLGSVLRDPRFFSNPRDFNPQHFLDKKGQFKKSDAFVPFSIGKRYCFGEGLARMELFLFFTTIMQNFRFKSPQSPKDIDVSPKHVGFATIPRNYTMSFLPR", "length": 494 }, "evidence": [ { "id": "45923526", "url": "http://www.informatics.jax.org/homology/45923526", "database": "MGI" }, { "id": "45923536", "url": "http://www.informatics.jax.org/homology/45923536", "database": "MGI" } ], "common_name": "Human" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 8, "go_terms": [ { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "P11509", "url": "https://www.uniprot.org/uniprot/P11509" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "P11509", "url": "https://www.uniprot.org/uniprot/P11509" } ], "pmid": "" }, { "name": "monooxygenase activity", "id": "GO:0004497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004497", "evidence": [ { "database": "UniProtKB", "id": "P11509", "url": "https://www.uniprot.org/uniprot/P11509" } ], "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": "P11509", "url": "https://www.uniprot.org/uniprot/P11509" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "P11509", "url": "https://www.uniprot.org/uniprot/P11509" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen", "id": "GO:0016712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016712", "evidence": [ { "database": "UniProtKB", "id": "P11509", "url": "https://www.uniprot.org/uniprot/P11509" } ], "pmid": "" }, { "name": "arachidonic acid epoxygenase activity", "id": "GO:0008392", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008392", "evidence": [ { "database": "UniProtKB", "id": "P11509", "url": "https://www.uniprot.org/uniprot/P11509" } ], "pmid": "" }, { "name": "coumarin 7-hydroxylase activity", "id": "GO:0008389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008389", "evidence": [ { "database": "UniProtKB", "id": "P11509", "url": "https://www.uniprot.org/uniprot/P11509" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 5, "go_terms": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P11509", "url": "https://www.uniprot.org/uniprot/P11509" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P11509", "url": "https://www.uniprot.org/uniprot/P11509" } ], "pmid": "" }, { "name": "intracellular membrane-bounded organelle", "id": "GO:0043231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043231", "evidence": [ { "database": "UniProtKB", "id": "P11509", "url": "https://www.uniprot.org/uniprot/P11509" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "P11509", "url": "https://www.uniprot.org/uniprot/P11509" } ], "pmid": "" }, { "name": "cytoplasmic microtubule", "id": "GO:0005881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005881", "evidence": [ { "database": "UniProtKB", "id": "P11509", "url": "https://www.uniprot.org/uniprot/P11509" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 6, "go_terms": [ { "name": "xenobiotic metabolic process", "id": "GO:0006805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006805", "evidence": [ { "database": "UniProtKB", "id": "P11509", "url": "https://www.uniprot.org/uniprot/P11509" } ], "pmid": "" }, { "name": "xenobiotic catabolic process", "id": "GO:0042178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042178", "evidence": [ { "database": "UniProtKB", "id": "P11509", "url": "https://www.uniprot.org/uniprot/P11509" } ], "pmid": "" }, { "name": "steroid metabolic process", "id": "GO:0008202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008202", "evidence": [ { "database": "UniProtKB", "id": "P11509", "url": "https://www.uniprot.org/uniprot/P11509" } ], "pmid": "" }, { "name": "coumarin catabolic process", "id": "GO:0046226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046226", "evidence": [ { "database": "UniProtKB", "id": "P11509", "url": "https://www.uniprot.org/uniprot/P11509" } ], "pmid": "" }, { "name": "epoxygenase P450 pathway", "id": "GO:0019373", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019373", "evidence": [ { "database": "UniProtKB", "id": "P11509", "url": "https://www.uniprot.org/uniprot/P11509" } ], "pmid": "" }, { "name": "coumarin metabolic process", "id": "GO:0009804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009804", "evidence": [ { "database": "UniProtKB", "id": "P11509", "url": "https://www.uniprot.org/uniprot/P11509" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 486, "end_pos": 488, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "49160", "name": "", "equation": "1,4-cineole + O2 + reduced [NADPH--hemoprotein reductase] = 2-exo-hydroxy-1,4-cineole + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P08684-1", "P20813-1", "P11509-1" ], "evidence": [ { "id": "49160", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/49160" } ] }, { "id": "R-HSA-143468", "name": "MEOS oxidizes ethanol to acetaldehyde", "equation": "", "summary": "The MEOS (microsomal ethanol oxidizing system) is an accessory pathway in the liver which increases in activity on chronic alcohol induction. The MEOS utilizes a cytochrome P450 which has since been deciphered to be CYP2E1, an ethanol-inducible form of P450. CYP2E1 also increases acetaldehyde formation and free radicals which can initiate lipid peroxidation. CYP2E1 can also activate many over-the-counter medicines and solvents to toxic metabolites and deplete retinoids resulting in their depletion and deletrious effects. This is because, being a cytochrome P450 and using NADPH and oxygen, it has the ability to biotransform drugs when it has been induced by ethanol.", "cellular_location": "endoplasmic reticulum lumen, endoplasmic reticulum membrane", "input_participant_list": [ "R-ALL-113748" ], "output_participant_list": [ "R-ALL-113745" ], "enzyme_list": [ "P05181-1", "P10635-1", "P20813-1", "P20853-1", "P33261-1", "P11509-1", "Q96SQ9-1", "P10632-1", "P11712-1", "P24903-1", "Q16696-1" ], "evidence": [ { "id": "R-HSA-143468", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-143468" } ] }, { "id": "R-HSA-211881", "name": "Coumarin is 7-hydroxylated by CYP2A13", "equation": "", "summary": "CYP2A13 can also 7-hydroxylate coumarin. It shares a 93.5% identity with CYP2A6 in the amino acid sequence but it is only about one-tenth as active as CYP2A6 in catalyzing coumarin 7-hydroxylation.", "cellular_location": "endoplasmic reticulum lumen, endoplasmic reticulum membrane, smooth endoplasmic reticulum", "input_participant_list": [ "R-ALL-76328" ], "output_participant_list": [ "R-ALL-76452" ], "enzyme_list": [ "P05181-1", "P20813-1", "P20853-1", "P33261-1", "P51589-1", "P11509-1", "P10632-1", "P11712-1", "P24903-1", "Q16696-1" ], "evidence": [ { "id": "R-HSA-211881", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211881" } ] }, { "id": "R-HSA-212005", "name": "CYP2F1 dehydrogenates 3-methylindole", "equation": "", "summary": "3-methylindole (3MI) is a fermentation product of tryptophan. It is usually formed in the rumen of goats and cattle and in the large intestine of humans. CYP2F1 shows the highest activity towards the dehydrogenation of 3MI to form a methylene imine-reactive intermediate.", "cellular_location": "endoplasmic reticulum lumen, endoplasmic reticulum membrane", "input_participant_list": [ "R-ALL-213162" ], "output_participant_list": [ "R-ALL-213163" ], "enzyme_list": [ "P05181-1", "P20813-1", "P20853-1", "P33261-1", "P51589-1", "P11509-1", "Q96SQ9-1", "P10632-1", "P11712-1", "P24903-1", "Q16696-1" ], "evidence": [ { "id": "R-HSA-212005", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-212005" } ] }, { "id": "R-HSA-76354", "name": "Vinyl chloride is oxidized to 2-Chloroethylene oxide", "equation": "", "summary": "CYP2E1 can catalyze the oxidation of the vinyl halide vinyl chloride to the epoxide 2-chloroethylene oxide. The epoxide is very unstable and rearranges quickly to 2-chloroacetaldehyde. Both these products can interact with DNA and proteins.", "cellular_location": "smooth endoplasmic reticulum", "input_participant_list": [ "R-ALL-39417" ], "output_participant_list": [ "R-ALL-156524" ], "enzyme_list": [ "P05181-1", "P10635-1", "P20813-1", "P20853-1", "P33261-1", "P11509-1", "Q96SQ9-1", "P10632-1", "P11712-1", "P24903-1", "Q16696-1" ], "evidence": [ { "id": "R-HSA-76354", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-76354" } ] }, { "id": "R-HSA-76397", "name": "Acetaminophen oxidised to N-acetylbenzoquinoneimine (NAPQI)", "equation": "", "summary": "N-acetyl-p-benzoquinone imine (NAPQI) is the reactive intermediate of the analgesic and antipyretic, acetaminophen (INN, paracetamol). At usual doses, NAPQI is quickly detoxified by conjugation but in overdose situations, NAPQI is extremely toxic to liver tissue.", "cellular_location": "endoplasmic reticulum lumen, endoplasmic reticulum membrane", "input_participant_list": [ "R-ALL-113555", "R-ALL-113564", "R-ALL-39427" ], "output_participant_list": [ "R-ALL-76396" ], "enzyme_list": [ "P05181-1", "P10635-1", "P20813-1", "P20853-1", "P33261-1", "P11509-1", "Q96SQ9-1", "P10632-1", "P11712-1", "P24903-1", "Q16696-1" ], "evidence": [ { "id": "R-HSA-76397", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-76397" } ] }, { "id": "R-HSA-76416", "name": "Benzene is hydroxylated to phenol", "equation": "", "summary": "Benzene is an occupational and environmental toxicant and is implicated in myelogenous leukemia. For toxicity to occur, benzene is oxidised to phenol and subsequently to catechol and hydroquinone. CYP2E1 is the enzyme responsible for oxidation of benzene to phenol.", "cellular_location": "smooth endoplasmic reticulum", "input_participant_list": [ "R-ALL-31711" ], "output_participant_list": [ "R-ALL-29630" ], "enzyme_list": [ "P05181-1", "P10635-1", "P20813-1", "P20853-1", "P33261-1", "P11509-1", "Q96SQ9-1", "P10632-1", "P11712-1", "P24903-1", "Q16696-1" ], "evidence": [ { "id": "R-HSA-76416", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-76416" } ] }, { "id": "R-HSA-76434", "name": "Dehalogenation of carbon tetrachloride to form a free radical", "equation": "", "summary": "Carbon tetrachloride (CCl4) has been widely used as a dry-cleaning agent, in fire extinguishers and in the manufacture of other halogenated hydrocarbons. At toxic doses, CCl4 exposure can damage the liver and kidneys. This toxicity results from CYP2E1-dependant reduction of CCl4 to the reactive trichloromethyl radical (CCl3.).", "cellular_location": "smooth endoplasmic reticulum", "input_participant_list": [ "R-ALL-40887" ], "output_participant_list": [ "R-ALL-29572", "R-ALL-76433" ], "enzyme_list": [ "P05181-1", "P10635-1", "P20813-1", "P20853-1", "P33261-1", "P11509-1", "Q96SQ9-1", "P10632-1", "P11712-1", "P24903-1", "Q16696-1" ], "evidence": [ { "id": "R-HSA-76434", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-76434" } ] }, { "id": "R-HSA-76453", "name": "Coumarin is 7-hydroxylated by CYP2A6", "equation": "", "summary": "The 7-hydroxylation of coumarin is used as an assay of P450 activity in animal and human liver microsomes. CYP2A6 is the major coumarin 7-hydroxylase in human liver.", "cellular_location": "endoplasmic reticulum lumen, endoplasmic reticulum membrane, smooth endoplasmic reticulum", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P05181-1", "P20853-1", "P11509-1", "P24903-1", "Q16696-1" ], "evidence": [ { "id": "R-HSA-76453", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-76453" } ] }, { "id": "R-HSA-76475", "name": "Dehalogenation of the poly-halogenated hydrocarbon Halothane to form the acylhalide Trifluoroacetlychloride and hydrogen bromide", "equation": "", "summary": "The volatile anesthetic halothane can undergo CYP2E1-catalyzed oxidation to form a reactive intermediate which can acetylate liver proteins. 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[NADPH--hemoprotein reductase] = (4S)-perillyl alcohol + H(+) + H2O + oxidized [NADPH--hemoprotein reductase].", "evidence": [ { "id": "P11712", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11712" } ] }, { "ec_number": "1.14.14.53", "activity": "(4R)-limonene + O2 + reduced [NADPH--hemoprotein reductase] = (1R,5S)-carveol + H(+) + H2O + oxidized [NADPH--hemoprotein reductase].", "evidence": [ { "id": "P11712", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11712" } ] }, { "ec_number": "1.14.14.1", "activity": "", "evidence": [ { "id": "P11712", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11712" } ] } ] }, { "uniprot_ac": "P20813", "gene_name": "CYP2B6", "activity": [ { "ec_number": "1.14.13.-", "activity": "", "evidence": [ { "id": "P20813", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20813" } ] } ] }, { "uniprot_ac": "P20853", "gene_name": "CYP2A7", "activity": [ { "ec_number": "1.14.14.1", "activity": "an organic molecule + O2 + reduced [NADPH--hemoprotein reductase] = an alcohol + H(+) + H2O + oxidized [NADPH--hemoprotein reductase].", "evidence": [ { "id": "P20853", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20853" } ] }, { "ec_number": "1.14.14.1", "activity": "", "evidence": [ { "id": "P20853", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20853" } ] } ] }, { "uniprot_ac": "P24903", "gene_name": "CYP2F1", "activity": [ { "ec_number": "1.14.14.1", "activity": "an organic molecule + O2 + reduced [NADPH--hemoprotein reductase] = an alcohol + H(+) + H2O + oxidized [NADPH--hemoprotein reductase].", "evidence": [ { "id": "P24903", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P24903" } ] }, { "ec_number": "1.14.14.1", "activity": "", "evidence": [ { "id": "P24903", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P24903" } ] } ] }, { "uniprot_ac": "P33261", "gene_name": "CYP2C19", "activity": [ { "ec_number": "1.14.14.1", "activity": "an organic molecule + O2 + reduced [NADPH--hemoprotein reductase] = an alcohol + H(+) + H2O + oxidized [NADPH--hemoprotein reductase].", "evidence": [ { "id": "P33261", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P33261" } ] }, { "ec_number": "1.14.14.51", "activity": "(4S)-limonene + O2 + reduced [NADPH--hemoprotein reductase] = (1S,5R)-carveol + H(+) + H2O + oxidized [NADPH--hemoprotein reductase].", "evidence": [ { "id": "P33261", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P33261" } ] }, { "ec_number": "1.14.14.52", "activity": "(4S)-limonene + O2 + reduced [NADPH--hemoprotein reductase] = (4S)-perillyl alcohol + H(+) + H2O + oxidized [NADPH--hemoprotein reductase].", "evidence": [ { "id": "P33261", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P33261" } ] }, { "ec_number": "1.14.14.53", "activity": "(4R)-limonene + O2 + reduced [NADPH--hemoprotein reductase] = (1R,5S)-carveol + H(+) + H2O + oxidized [NADPH--hemoprotein reductase].", "evidence": [ { "id": "P33261", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P33261" } ] }, { "ec_number": "1.14.14.75", "activity": "fenbendazole + O2 + reduced [NADPH--hemoprotein reductase] = 4'-hydroxyfenbendazole + H(+) + H2O + oxidized [NADPH--hemoprotein reductase].", "evidence": [ { "id": "P33261", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P33261" } ] }, { "ec_number": "1.14.14.1", "activity": "", "evidence": [ { "id": "P33261", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P33261" } ] } ] }, { "uniprot_ac": "P51589", "gene_name": "CYP2J2", "activity": [ { "ec_number": "1.14.14.-", "activity": "", "evidence": [ { "id": "P51589", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51589" } ] }, { "ec_number": "5.4.4.7", "activity": "a hydroperoxyeicosatetraenoate = a hydroxy-epoxy-eicosatetraenoate.", "evidence": [ { "id": "P51589", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51589" } ] }, { "ec_number": "1.14.14.73", "activity": "albendazole + O2 + reduced [NADPH--hemoprotein reductase] = albendazole S-oxide + H(+) + H2O + oxidized [NADPH--hemoprotein reductase].", "evidence": [ { "id": "P51589", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51589" } ] }, { "ec_number": "1.14.14.74", "activity": "albendazole + O2 + reduced [NADPH--hemoprotein reductase] = H(+) + H2O + hydroxyalbendazole + oxidized [NADPH--hemoprotein reductase].", "evidence": [ { "id": "P51589", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51589" } ] } ] }, { "uniprot_ac": "Q16696", "gene_name": "CYP2A13", "activity": [ { "ec_number": "1.14.14.1", "activity": "an organic molecule + O2 + reduced [NADPH--hemoprotein reductase] = an alcohol + H(+) + H2O + oxidized [NADPH--hemoprotein reductase].", "evidence": [ { "id": "Q16696", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16696" } ] }, { "ec_number": "1.14.14.1", "activity": "", "evidence": [ { "id": "Q16696", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16696" } ] } ] }, { "uniprot_ac": "Q96SQ9", "gene_name": "CYP2S1", "activity": [ { "ec_number": "1.14.14.-", "activity": "", "evidence": [ { "id": "Q96SQ9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96SQ9" } ] }, { "ec_number": "4.2.1.152", "activity": "(12R)-hydroperoxy-(5Z,8Z,10E,14Z)-eicosatetraenoate = 12-oxo-(5Z,8Z,10E,14Z)-eicosatetraenoate + H2O.", "evidence": [ { "id": "Q96SQ9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96SQ9" } ] }, { "ec_number": "5.3.99.5", "activity": "prostaglandin H2 = thromboxane A2.", "evidence": [ { "id": "Q96SQ9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96SQ9" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [ 225 ], "glycation_sites": [], "phosphorylation_sites": [ 131 ], "sequon_annotation_sites": [ { "start_pos": 486, "end_pos": 488 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 52 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }