CYP1B1 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. Defects in CYP1B1 are the cause of primary congenital glaucoma type 3A (GLC3A). 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. Defects in CYP1B1 are a cause of primary open angle glaucoma (POAG). 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. Defects in CYP1B1 are a cause of Peters anomaly (PAN). Peters anomaly is a congenital defect of the anterior chamber of the eye. Belongs to the cytochrome P450 family. Note: This description may include information from UniProtKB.
Protein type: Amino Acid Metabolism - tryptophan; EC; Oxidoreductase; Xenobiotic Metabolism - metabolism by cytochrome P450
Chromosomal Location of Human Ortholog: 17|17 E3
Cellular Component:  endoplasmic reticulum; intracellular membrane-bounded organelle; membrane; mitochondrion; nucleus
Molecular Function:  aromatase activity; heme binding; iron ion binding; metal ion binding; monooxygenase activity; oxidoreductase activity; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen; 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
Biological Process:  angiogenesis; arachidonic acid metabolic process; benzene-containing compound metabolic process; blood vessel morphogenesis; cell adhesion; cellular aromatic compound metabolic process; cellular response to hydrogen peroxide; cellular response to organic cyclic compound; collagen fibril organization; DNA modification; endothelial cell migration; endothelial cell-cell adhesion; estrogen metabolic process; intrinsic apoptotic signaling pathway in response to oxidative stress; membrane lipid catabolic process; negative regulation of cell adhesion mediated by integrin; negative regulation of cell migration; negative regulation of cell proliferation; negative regulation of NF-kappaB transcription factor activity; nitric oxide biosynthetic process; oxidation-reduction process; positive regulation of angiogenesis; positive regulation of apoptotic process; positive regulation of DNA biosynthetic process; positive regulation of JAK-STAT cascade; positive regulation of reactive oxygen species metabolic process; positive regulation of smooth muscle cell migration; positive regulation of translation; positive regulation of vascular endothelial growth factor production; regulation of reactive oxygen species metabolic process; response to toxic substance; retina vasculature development in camera-type eye; retinal blood vessel morphogenesis; retinal metabolic process; retinol metabolic process; steroid metabolic process; toxin metabolic process; trabecular meshwork development; xenobiotic metabolic process
Reference #:  Q64429 (UniProtKB)
Alt. Names/Synonyms: benz[a]anthracene inducible; CP1B; CP1B1; Cyp1-b1; Cyp1b1; CYPIB1; Cytochrome P450 1B1; cytochrome P450, 1b1, benz[a]anthracene inducible; cytochrome P450, family 1, subfamily b, polypeptide 1; Cytochrome P450CMEF; Cytochrome P450EF; P4501b1
Gene Symbols: Cyp1b1
Molecular weight: 60,537 Da
Basal Isoelectric point: 8.7  Predict pI for various phosphorylation states
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Protein Structure Not Found.

Cross-references to other databases:  STRING  |  Reactome  |  BioGPS  |  Pfam  |  ENZYME  |  Phospho.ELM  |  NetworKIN  |  UniProtKB  |  Entrez-Gene  |  Ensembl Gene