Entity Details

Primary name CYP1B1
Entity type gene
Source Source Link

Details

PrimaryID1545
RefseqGeneNG_008386
SymbolCYP1B1
Namecytochrome P450 family 1 subfamily B member 1
Chromosome2
Location2p22.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1997-12-18
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCP1B1_HUMAN

GO terms

Show/Hide Table
GOName
GO:0001525 angiogenesis
GO:0002930 trabecular meshwork development
GO:0004497 monooxygenase activity
GO:0005506 iron ion binding
GO:0005739 mitochondrion
GO:0005789 endoplasmic reticulum membrane
GO:0006725 cellular aromatic compound metabolic process
GO:0006805 xenobiotic metabolic process
GO:0006809 nitric oxide biosynthetic process
GO:0007155 cell adhesion
GO:0008202 steroid metabolic process
GO:0008210 estrogen metabolic process
GO:0008285 negative regulation of cell population 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: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:0019369 arachidonic acid metabolic process
GO:0019373 epoxygenase P450 pathway
GO:0020037 heme binding
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:0043231 intracellular membrane-bounded organelle
GO:0043542 endothelial cell migration
GO:0045766 positive regulation of angiogenesis
GO:0046427 positive regulation of receptor signaling pathway via JAK-STAT
GO:0046466 membrane lipid catabolic process
GO:0048514 blood vessel morphogenesis
GO:0061304 retinal blood vessel morphogenesis
GO:0070301 cellular response to hydrogen peroxide
GO:0070330 aromatase activity
GO:0071407 cellular response to organic cyclic compound
GO:0071603 endothelial cell-cell adhesion
GO:0097267 omega-hydroxylase P450 pathway
GO:0101020 estrogen 16-alpha-hydroxylase activity
GO:0106256 hydroperoxy icosatetraenoate dehydratase activity
GO:2000377 regulation of reactive oxygen species metabolic process

Diseases

Show/Hide Table
Disease IDSourceNameDescription
231300 OMIMGlaucoma 3, primary congenital, A (GLC3A)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. The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry.
617315 OMIMAnterior segment dysgenesis 6 (ASGD6)A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. ASGD6 patients predominantly manifest Peters anomaly. Peters anomaly consists of corneal leukoma, defects in the posterior structures of the cornea such as absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iridocorneal and/or keratolenticular adhesions. Over 50% of patients develop glaucoma in childhood. The disease is caused by variants affecting the gene represented in this entry.
137750 OMIMGlaucoma 1, open angle, A (GLC1A)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. 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).

Interactions

11 interactions