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CYP1B1

CYP1B1 (Cytochrome P450 Family 1 Subfamily B Member 1) is a Protein Coding gene. Diseases associated with CYP1B1 include Glaucoma 3, Primary Congenital, A and Anterior Segment Dysgenesis 6. Among its related pathways are Estrogen Receptor Pathway and Aryl Hydrocarbon Receptor. Gene Ontology (GO) annotations related to this gene include iron ion binding and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen. An important paralog of this gene is CYP1A1.
Full Name
Cytochrome P450 Family 1 Subfamily B Member 1
Function
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).
Biological Process
Angiogenesis Source: Ensembl
Arachidonic acid metabolic process Source: UniProtKB
Blood vessel morphogenesis Source: UniProtKB
Cell adhesion Source: UniProtKB
Cellular aromatic compound metabolic process Source: Ensembl
Cellular response to hydrogen peroxide Source: UniProtKB
Cellular response to organic cyclic compound Source: MGI
Collagen fibril organization Source: UniProtKB
Endothelial cell-cell adhesion Source: Ensembl
Endothelial cell migration Source: UniProtKB
Epoxygenase P450 pathway Source: Reactome
Estrogen metabolic process Source: UniProtKB
Intrinsic apoptotic signaling pathway in response to oxidative stress Source: UniProtKB
Membrane lipid catabolic process Source: UniProtKB
Negative regulation of cell adhesion mediated by integrin Source: UniProtKB
Negative regulation of cell migration Source: UniProtKB
Negative regulation of cell population proliferation Source: UniProtKB
Negative regulation of NF-kappaB transcription factor activity Source: UniProtKB
Nitric oxide biosynthetic process Source: UniProtKB
Omega-hydroxylase P450 pathway Source: Reactome
Positive regulation of angiogenesis Source: UniProtKB
Positive regulation of apoptotic process Source: UniProtKB
Positive regulation of receptor signaling pathway via JAK-STAT Source: UniProtKB
Positive regulation of vascular endothelial growth factor production Source: UniProtKB
Regulation of reactive oxygen species metabolic process Source: UniProtKB
Response to toxic substance Source: Ensembl
Retinal blood vessel morphogenesis Source: UniProtKB
Retinal metabolic process Source: UniProtKB
Retinol metabolic process Source: UniProtKB
Steroid metabolic process Source: UniProtKB
Sterol metabolic process Source: Reactome
Toxin metabolic process Source: Ensembl
Trabecular meshwork development Source: UniProtKB
Xenobiotic metabolic process Source: UniProtKB
Cellular Location
Endoplasmic reticulum membrane; Microsome membrane; Mitochondrion. Located primarily in endoplasmic reticulum. Upon treatment with 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD), CYP1B1 is also targeted to mitochondria.
Involvement in disease
Anterior 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.
Glaucoma 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.
Glaucoma 1, open angle, A (GLC1A):
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).
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.

Anti-CYP1B1 antibodies

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Target: CYP1B1
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human
Clone: EG885
Application*: WB: 1:500~1:3000 ELISA: 1:40000
Target: CYP1B1
Host: Mouse
Antibody Isotype: IgG2b, κ
Specificity: Human
Clone: 2F8
Application*: E
Target: CYP1B1
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human, Mouse, Rat
Clone: 5E2
Application*: WB, E, IH
Target: CYP1B1
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: 5D3
Application*: E, IH, WB
For Research Use Only. Not For Clinical Use.
(P): Predicted
* Abbreviations
IFImmunofluorescence
IHImmunohistochemistry
IPImmunoprecipitation
WBWestern Blot
EELISA
MMicroarray
CIChromatin Immunoprecipitation
FFlow Cytometry
FNFunction Assay
IDImmunodiffusion
RRadioimmunoassay
TCTissue Culture
GSGel Supershift
NNeutralization
BBlocking
AActivation
IInhibition
DDepletion
ESELISpot
DBDot Blot
MCMass Cytometry/CyTOF
CTCytotoxicity
SStimulation
AGAgonist
APApoptosis
IMImmunomicroscopy
BABioassay
CSCostimulation
EMElectron Microscopy
IEImmunoelectrophoresis
PAPeptide Array
ICImmunocytochemistry
PEPeptide ELISA
MDMeDIP
SHIn situ hybridization
IAEnzyme Immunoassay
SEsandwich ELISA
PLProximity Ligation Assay
ECELISA(Cap)
EDELISA(Det)
BIBioimaging
IOImmunoassay
LFLateral Flow Immunoassay
LALuminex Assay
CImmunohistochemistry-Frozen Sections
PImmunohistologyp-Paraffin Sections
ISIntracellular Staining for Flow Cytometry
MSElectrophoretic Mobility Shift Assay
RIRNA Binding Protein Immunoprecipitation (RIP)
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