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Gene Symbol |
CYP1B1 |
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Aliases |
ASGD6, CP1B, CYPIB1, GLC3A, P4501B1 |
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Entrez Gene ID |
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Gene Name |
Cytochrome P450 family 1 subfamily B member 1 |
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Chromosomal Location |
2p22.2 |
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HGNC ID |
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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. The enzyme encoded by this gene localizes to the endoplasmic reticulum and metabolizes procarcinogens such as polycyclic aromatic hydrocarbons and 17beta-estradiol. Mutations in this gene have been associated with primary congenital glaucoma; therefore it is thought that the enzyme also metabolizes a signaling molecule involved in eye development, possibly a steroid. [provided by RefSeq, Jul 2008]
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RefSeq DNA |
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RefSeq mRNA |
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e!Ensembl
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| Protein Information |
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Protein Name |
Cytochrome P450 1B1, aryl hydrocarbon hydroxylase, cytochrome P450, family 1, subfamily B, polypeptide 1, cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile), dioxin-inducible cytochrome p450, flavoprotein-linked monooxygenase, hydroperoxy icosatetraenoate dehydratase, microsomal monooxygenase, xenobiotic monooxygenase |
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Function |
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A cytochrome P450 monooxygenase involved in the metabolism of various endogenous substrates, including fatty acids, steroid hormones and vitamins (PubMed:20972997, PubMed:11555828, PubMed:12865317, PubMed:10681376, PubMed:15258110). 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 (NADPH--hemoprotein reductase) (PubMed:20972997, PubMed:11555828, PubMed:12865317, PubMed:10681376, PubMed:15258110). Exhibits catalytic activity for the formation of hydroxyestrogens from estrone (E1) and 17beta-estradiol (E2), namely 2- and 4-hydroxy E1 and E2. Displays a predominant hydroxylase activity toward E2 at the C-4 position (PubMed:11555828, PubMed:12865317). Metabolizes testosterone and progesterone to B or D ring hydroxylated metabolites (PubMed:10426814). May act as a major enzyme for all-trans retinoic acid biosynthesis in extrahepatic tissues. Catalyzes two successive oxidative transformation of all-trans retinol to all-trans retinal and then to the active form all-trans retinoic acid (PubMed:10681376, PubMed:15258110). Catalyzes the epoxidation of double bonds of certain PUFA. Converts arachidonic acid toward epoxyeicosatrienoic acid (EpETrE) regioisomers, 8,9-, 11,12-, and 14,15- EpETrE, that function as lipid mediators in the vascular system (PubMed:20972997). Additionally, displays dehydratase activity toward oxygenated eicosanoids hydroperoxyeicosatetraenoates (HpETEs). This activity is independent of cytochrome P450 reductase, NADPH, and O2 (PubMed:21068195). Also involved in the oxidative metabolism of xenobiotics, particularly converting polycyclic aromatic hydrocarbons and heterocyclic aryl amines procarcinogens to DNA-damaging products (PubMed:10426814). Plays an important role in retinal vascular development. Under hyperoxic O2 conditions, promotes retinal angiogenesis and capillary morphogenesis, likely by metabolizing the oxygenated products generated during the oxidative stress. Also, contributes to oxidative homeostasis and ultrastructural organization and function of trabecular meshwork tissue through modulation of POSTN expression (By similarity). |
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UniProt |
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PDB |
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Pfam |
| Pfam Accession |
Pfam ID |
| PF00067 |
p450 |
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Interactions |
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| STRING |
MINT |
IntAct |
| ENSP00000239223 |
P28562 |
P28562 |
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View interactions
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Associated Diseases
| Disease group | Disease Name | References |
| Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| Hydrophthalmos |
15255109, 14635112, 11184479, 16490498, 12036985, 16862072, 15342693, 16735994, 11527932, 11774072, 15475877, 11980847, 10655546, 14640114, 16688110, 18470941, 9463332, 9497261, 12525557 |
| Irido-corneo-trabecular dysgenesis |
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| Congenital ocular coloboma |
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| Digestive System Diseases |
| Fatty Liver |
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| Endocrine System Diseases |
| PCOS |
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| Eye Diseases |
| Glaucoma |
14640114, 12036985, 10655546, 9463332, 9497261, 14635112, 15342693, 11527932, 11184479, 15475877, 15255109, 12525557, 16490498, 11774072, 16735994, 18470941, 16862072, 16688110, 11980847, 27243976, 11403040, 23218183, 10227395, 28492532, 27272408, 21600657, 220040 |
| Anterior Segment Dysgenesis |
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| Neoplasms |
| Lung Cancer |
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| Adenoma |
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| Colorectal Cancer |
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| Leukemia |
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| Breast Cancer |
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| Lymphoma |
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| Carcinoma |
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| Prostate cancer |
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| Mouth Neoplasms |
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| Ovarian Cancer |
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| Nutritional and Metabolic Diseases |
| Obesity |
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| Skin and Connective Tissue Diseases |
| Dermatitis |
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References |
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| Kokosar Milana, Benrick Anna, Perfilyev Alexander, Fornes Romina, Nilsson Emma, Maliqueo Manuel, Behre Carl Johan, Sazonova Antonina, Ohlsson Claes, Ling Charlotte, Stener-Victorin Elisabet |
| Department of Physiology, Institute of Neuroscience and Physiology, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.| Department of Physiology, Institute of Neuroscience and Physiology, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.| Epigenetics and Diabetes, Department of Clinical Sciences, Lund University Diabetes Centre, Lund University, Clinical Research Centre, Malmo, Sweden.| Department of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden.| Epigenetics and Diabetes, Department of Clinical Sciences, Lund University Diabetes Centre, Lund University, Clinical Research Centre, Malmo, Sweden.| Department of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden.| Endocrinology and Metabolism Laboratory, Department of Medicine, West division, University of Chile, Santiago, Chile.| The Wallenberg Laboratory and Sahlgrenska Center for Cardiovascular and Metabolic Research, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.| Department of Obstetrics and Gynecology, Reproductive Medicine, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.| Department of Internal Medicine, Centre for Bone and Arthritis Research, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.| Epigenetics and Diabetes, Department of Clinical Sciences, Lund University Diabetes Centre, Lund University, Clinical Research Centre, Malmo, Sweden.| Department of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden. |
| Sci Rep. 2016 Mar 15;6:22883. doi: 10.1038/srep22883. |
Abstract
Genetic and epigenetic factors may predispose women to polycystic ovary syndrome (PCOS), a common heritable disorder of unclear etiology. Here we investigated differences in genome-wide gene expression and DNA methylation in adipose tissue from 64 women with PCOS and 30 controls. In total, 1720 unique genes were differentially expressed (Q < 0.05). Six out of twenty selected genes with largest expression difference (CYP1B1, GPT), genes linked to PCOS (RAB5B) or type 2 diabetes (PPARG, SVEP1), and methylation (DMAP1) were replicated in a separate case-control study. In total, 63,213 sites (P < 0.05) and 440 sites (Q < 0.15) were differently methylated. Thirty differentially expressed genes had corresponding changes in 33 different DNA methylation sites. Moreover, a total number of 1913 pairs of differentially expressed "gene-CpG" probes were significantly correlated after correction for multiple testing and corresponded with 349 unique genes. In conclusion, we identified a large number of genes and pathways that are affected in adipose tissue from women with PCOS. We also identified specific DNA methylation pathways that may affect mRNA expression. Together, these novel findings show that women with PCOS have multiple transcriptional and epigenetic changes in adipose tissue that are relevant for development of the disease. |
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