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MT000164

UniProt Annotations

Entry Information
Gene Namecytochrome P450, family 1, subfamily B, polypeptide 1
Protein EntryCP1B1_HUMAN
UniProt IDQ16678
SpeciesHuman
Comments
Comment typeDescription
Biophysicochemical Properties Kinetic parameters: KM=6.0 uM for 17-beta-estradiol {ECO:0000269|PubMed:10426814, ECO:0000269|PubMed:15258110}; KM=17.0 uM for testosterone {ECO:0000269|PubMed:10426814, ECO:0000269|PubMed:15258110}; KM=24.0 uM for progesterone {ECO:0000269|PubMed:10426814, ECO:0000269|PubMed:15258110}; KM=18.5 uM for retinol {ECO:0000269|PubMed:10426814, ECO:0000269|PubMed:15258110}; KM=8.5 uM for retinal {ECO:0000269|PubMed:10426814, ECO:0000269|PubMed:15258110}; KM=29.8 uM for arachidonic acid {ECO:0000269|PubMed:10426814, ECO:0000269|PubMed:15258110}; KM=212.8 uM for 7,12-dimethyltetraphene {ECO:0000269|PubMed:10426814, ECO:0000269|PubMed:15258110}; Vmax=14.95 nmol/min/mg enzyme for 17-beta-estradiol 4- hydroxylation {ECO:0000269|PubMed:10426814, ECO:0000269|PubMed:15258110}; Vmax=6.9 nmol/min/mg enzyme for 17-beta-estradiol 2- hydroxylation {ECO:0000269|PubMed:10426814, ECO:0000269|PubMed:15258110}; Vmax=36.16 nmol/min/mg enzyme for testosterone 6-beta- hydroxylation {ECO:0000269|PubMed:10426814, ECO:0000269|PubMed:15258110}; Vmax=9.86 nmol/min/mg enzyme for progesterone 6-beta- hydroxylation {ECO:0000269|PubMed:10426814, ECO:0000269|PubMed:15258110}; Vmax=37.80 nmol/min/mg enzyme for progesterone 16-alpha- hydroxylation {ECO:0000269|PubMed:10426814, ECO:0000269|PubMed:15258110}; Note=kcat is 0.15 min(-1) for retinol, 0.77 min(-1) for retinal, 2.86 min(-1) for 7,12-dimethyltetraphene, 0.48 min(-1) for arachidonic acid.;
Catalytic Activity RH + reduced flavoprotein + O(2) = ROH + oxidized flavoprotein + H(2)O. {ECO:0000269|PubMed:10426814, ECO:0000269|PubMed:22888116}.
Cofactor Name=heme; Xref=ChEBI:CHEBI:30413; Evidence={ECO:0000269|PubMed:21147782};
Disease Glaucoma 1, open angle, A (GLC1A) [MIM:137750]: A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. {ECO:0000269|PubMed:11774072}. Note=The gene represented in this entry acts as a disease modifier. Digenic mutations in CYP1B1 and MYOC have been found in a family segregating both primary adult- onset and juvenile forms of open angle glaucoma (PubMed:11774072). All affected family members with mutations in both MYOC and CYP1B1 had juvenile glaucoma, whereas those with only the MYOC mutation had the adult-onset form (PubMed:11774072). {ECO:0000269|PubMed:11774072}.
Disease Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]: An autosomal recessive form of primary congenital glaucoma (PCG). PCG is characterized by marked increase of intraocular pressure at birth or early childhood, large ocular globes (buphthalmos) and corneal edema. It results from developmental defects of the trabecular meshwork and anterior chamber angle of the eye that prevent adequate drainage of aqueous humor. {ECO:0000269|PubMed:10227395, ECO:0000269|PubMed:10655546, ECO:0000269|PubMed:11184479, ECO:0000269|PubMed:11527932, ECO:0000269|PubMed:11980847, ECO:0000269|PubMed:12036985, ECO:0000269|PubMed:12525557, ECO:0000269|PubMed:14635112, ECO:0000269|PubMed:14640114, ECO:0000269|PubMed:15255109, ECO:0000269|PubMed:15342693, ECO:0000269|PubMed:15475877, ECO:0000269|PubMed:16490498, ECO:0000269|PubMed:16735994, ECO:0000269|PubMed:9463332, ECO:0000269|PubMed:9497261}. Note=The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry.
Disease Glaucoma, primary open angle (POAG) [MIM:137760]: A complex and genetically heterogeneous ocular disorder characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. In some cases, POAG shows digenic inheritance involving mutations in CYP1B1 and MYOC genes. {ECO:0000269|PubMed:11774072, ECO:0000269|PubMed:15342693, ECO:0000269|PubMed:16688110, ECO:0000269|PubMed:16862072}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. CYP1B1 mutations have been reported to pose a significant risk for early-onset POAG and also modify glaucoma phenotype in patients who do not carry a MYOC mutation (PubMed:15342693). {ECO:0000269|PubMed:15342693}.
Disease Peters anomaly (PETAN) [MIM:604229]: Consists of a central corneal leukoma, absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iris and lenticular attachments to the central aspect of the posterior cornea. {ECO:0000269|PubMed:11403040}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Enzyme Regulation Enzyme activity is increased by liposomes containing anionic phospholipids, phosphatidic acid and cardiolipin. Inhibited by naringenin with an IC(50) of 5 uM. {ECO:0000269|PubMed:22888116, ECO:0000269|PubMed:22935222}.
Function Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, retinoid and xenobiotics. Preferentially oxidizes 17beta- estradiol to the carcinogenic 4-hydroxy derivative, and a variety of procarcinogenic compounds to their activated forms, including polycyclic aromatic hydrocarbons. Promotes angiogenesis by removing cellular oxygenation products, thereby decreasing oxidative stress, release of antiangiogenic factor THBS2, then allowing endothelial cells migration, cell adhesion and capillary morphogenesis. These changes are concommitant with the endothelial nitric oxide synthase activity and nitric oxide synthesis. Plays an important role in the regulation of perivascular cell proliferation, migration, and survival through modulation of the intracellular oxidative state and NF-kappa-B expression and/or activity, during angiogenesis. Contributes to oxidative homeostasis and ultrastructural organization and function of trabecular meshwork tissue through modulation of POSTN expression. {ECO:0000269|PubMed:10426814, ECO:0000269|PubMed:15258110, ECO:0000269|PubMed:22888116, ECO:0000269|PubMed:23821647}.
Induction By polycyclic aromatic hydrocarbons (PAH) and 2,3,7,8- tetrachlorodibenzo-p-dioxin (TCDD). {ECO:0000269|PubMed:8175734}.
Polymorphism Various CYP1B1 alleles are known. The sequence shown is that of allele CYP1B1*1.
Similarity Belongs to the cytochrome P450 family. {ECO:0000305}.
Subcellular Location Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral membrane protein. Mitochondrion {ECO:0000250}.
Tissue Specificity Expressed in many tissues. {ECO:0000269|PubMed:8175734}.
Web Resource Name=Cytochrome P450 Allele Nomenclature Committee; Note=CYP1B1 alleles; URL="http://www.cypalleles.ki.se/cyp1b1.htm";
Web Resource Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/cyp1b1/";