ID:CP1B1_HUMAN DESCRIPTION: RecName: Full=Cytochrome P450 1B1; EC=1.14.14.1; AltName: Full=CYPIB1; 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, and xenobiotics. FUNCTION: Participates in the metabolism of an as-yet-unknown biologically active molecule that is a participant in eye development. CATALYTIC ACTIVITY: RH + reduced flavoprotein + O(2) = ROH + oxidized flavoprotein + H(2)O. COFACTOR: Heme group (By similarity). BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=6.0 uM for 17-beta-estradiol; KM=17.0 uM for testosterone; KM=24.0 uM for progesterone; Vmax=14.95 nmol/min/mg enzyme for 17-beta-estradiol 4- hydroxylation; Vmax=6.9 nmol/min/mg enzyme for 17-beta-estradiol 2- hydroxylation; Vmax=36.16 nmol/min/mg enzyme for testosterone 6-beta- hydroxylation; Vmax=9.86 nmol/min/mg enzyme for progesterone 6-beta- hydroxylation; Vmax=37.80 nmol/min/mg enzyme for progesterone 16-alpha- hydroxylation; SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral membrane protein. TISSUE SPECIFICITY: Expressed in many tissues. INDUCTION: By polycyclic aromatic hydrocarbons (PAH) and 2,3,7,8- tetrachlorodibenzo-p-dioxin (TCDD). POLYMORPHISM: Various CYP1B1 alleles are known. The sequence shown is that of allele CYP1B1*1. DISEASE: Defects in CYP1B1 are the cause of primary congenital glaucoma type 3A (GLC3A) [MIM:231300]. GLC3A is 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. DISEASE: Defects in CYP1B1 are a cause of primary open angle glaucoma (POAG) [MIM:137760]. POAG is 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. The disease is 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. DISEASE: Defects in CYP1B1 are a cause of Peters anomaly (PAN) [MIM:604229]. Peters anomaly is a congenital defect of the anterior chamber of the eye. SIMILARITY: Belongs to the cytochrome P450 family. WEB RESOURCE: Name=Cytochrome P450 Allele Nomenclature Committee; Note=CYP1B1 alleles; URL="http://www.cypalleles.ki.se/cyp1b1.htm"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CYP1B1"; WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/cyp1b1/";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q16678
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0004497 monooxygenase activity GO:0005506 iron ion binding GO:0016491 oxidoreductase activity GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016712 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 GO:0019825 oxygen binding GO:0020037 heme binding GO:0046872 metal ion binding GO:0070330 aromatase activity
Biological Process: GO:0001525 angiogenesis GO:0002930 trabecular meshwork development GO:0006725 cellular aromatic compound metabolic process GO:0006805 xenobiotic metabolic process GO:0006809 nitric oxide biosynthetic process GO:0007155 cell adhesion GO:0007601 visual perception GO:0008202 steroid metabolic process GO:0008210 estrogen metabolic process GO:0008285 negative regulation of cell proliferation GO:0008631 intrinsic apoptotic signaling pathway in response to oxidative stress GO:0009404 toxin metabolic process GO:0009636 response to toxic substance GO:0010575 positive regulation of vascular endothelial growth factor production GO:0016125 sterol metabolic process GO:0019369 arachidonic acid metabolic process GO:0019373 epoxygenase P450 pathway GO:0030199 collagen fibril organization GO:0030336 negative regulation of cell migration GO:0032088 negative regulation of NF-kappaB transcription factor activity GO:0033629 negative regulation of cell adhesion mediated by integrin GO:0042572 retinol metabolic process GO:0042574 retinal metabolic process GO:0043065 positive regulation of apoptotic process GO:0043542 endothelial cell migration GO:0045766 positive regulation of angiogenesis GO:0046427 positive regulation of JAK-STAT cascade GO:0046466 membrane lipid catabolic process GO:0048514 blood vessel morphogenesis GO:0055114 oxidation-reduction process GO:0061298 retina vasculature development in camera-type eye GO:0061304 retinal blood vessel morphogenesis GO:0070301 cellular response to hydrogen peroxide GO:0071407 cellular response to organic cyclic compound GO:0071603 endothelial cell-cell adhesion GO:0097267 omega-hydroxylase P450 pathway GO:2000377 regulation of reactive oxygen species metabolic process
BioCyc Knowledge Library PWY-6398 - melatonin degradation I PWY-6402 - superpathway of melatonin degradation PWY66-401 - superpathway of L-tryptophan utilization
Reactome (by CSHL, EBI, and GO)
Protein Q16678 (Reactome details) participates in the following event(s):
R-HSA-211951 CYP1B1 4-hydroxylates EST17b R-HSA-2161814 Arachidonic acid is hydroxylated to 19-HETE by CYP(2) R-HSA-2161890 Arachidonic acid is epoxidated to 5,6-EET by CYP(4) R-HSA-2161940 Arachidonic acid is hydroxylated to 20-HETE by CYP(3) R-HSA-2161899 Arachidonic acid is epoxidated to 8,9/11,12/14,15-EET by CYP(5) R-HSA-2161795 Arachidonic acid is hydroxylated to 16/17/18-HETE by CYP(1) R-HSA-211976 Endogenous sterols R-HSA-2142816 Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE) R-HSA-2142670 Synthesis of epoxy (EET) and dihydroxyeicosatrienoic acids (DHET) R-HSA-211897 Cytochrome P450 - arranged by substrate type R-HSA-2142753 Arachidonic acid metabolism R-HSA-211945 Phase I - Functionalization of compounds R-HSA-8978868 Fatty acid metabolism R-HSA-211859 Biological oxidations R-HSA-556833 Metabolism of lipids R-HSA-1430728 Metabolism
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
