Gene CYP1B1 - ENSG00000138061 | NCBI Gene ID: 1545

Details for: CYP1B1

Gene ID: 1545

Symbol: CYP1B1

Ensembl ID: ENSG00000138061

Description: cytochrome P450 family 1 subfamily B member 1

Associated with

Arachidonic acid metabolism
(R-HSA-2142753)
Biological oxidations
(R-HSA-211859)
Cytochrome p450 - arranged by substrate type
(R-HSA-211897)
Defective cyp1b1 causes glaucoma
(R-HSA-5579000)
Disease
(R-HSA-1643685)
Diseases of metabolism
(R-HSA-5668914)
Endogenous sterols
(R-HSA-211976)
Fatty acid metabolism
(R-HSA-8978868)
Metabolic disorders of biological oxidation enzymes
(R-HSA-5579029)
Metabolism
(R-HSA-1430728)
Metabolism of lipids
(R-HSA-556833)
Phase i - functionalization of compounds
(R-HSA-211945)
Synthesis of (16-20)-hydroxyeicosatetraenoic acids (hete)
(R-HSA-2142816)
Synthesis of epoxy (eet) and dihydroxyeicosatrienoic acids (dhet)
(R-HSA-2142670)
Adrenal gland development
(GO:0030325)
Angiogenesis
(GO:0001525)
Arachidonic acid metabolic process
(GO:0019369)
Aromatase activity
(GO:0070330)
Benzene-containing compound metabolic process
(GO:0042537)
Blood vessel endothelial cell migration
(GO:0043534)
Blood vessel morphogenesis
(GO:0048514)
Cell adhesion
(GO:0007155)
Cellular response to camp
(GO:0071320)
Cellular response to cortisol stimulus
(GO:0071387)
Cellular response to hydrogen peroxide
(GO:0070301)
Cellular response to luteinizing hormone stimulus
(GO:0071373)
Cellular response to organic cyclic compound
(GO:0071407)
Cellular response to progesterone stimulus
(GO:0071393)
Cellular response to toxic substance
(GO:0097237)
Cellular response to tumor necrosis factor
(GO:0071356)
Collagen fibril organization
(GO:0030199)
Dna modification
(GO:0006304)
Endoplasmic reticulum membrane
(GO:0005789)
Endothelial cell-cell adhesion
(GO:0071603)
Endothelial cell migration
(GO:0043542)
Epoxygenase p450 pathway
(GO:0019373)
Estrogen 16-alpha-hydroxylase activity
(GO:0101020)
Estrogen metabolic process
(GO:0008210)
Estrous cycle
(GO:0044849)
Ganglion development
(GO:0061548)
Heme binding
(GO:0020037)
Hydroperoxy icosatetraenoate dehydratase activity
(GO:0106256)
Intracellular membrane-bounded organelle
(GO:0043231)
Intrinsic apoptotic signaling pathway in response to oxidative stress
(GO:0008631)
Iron ion binding
(GO:0005506)
Male gonad development
(GO:0008584)
Membrane lipid catabolic process
(GO:0046466)
Mitochondrion
(GO:0005739)
Monooxygenase activity
(GO:0004497)
Negative regulation of cell adhesion mediated by integrin
(GO:0033629)
Negative regulation of cell migration
(GO:0030336)
Negative regulation of cell population proliferation
(GO:0008285)
Negative regulation of nf-kappab transcription factor activity
(GO:0032088)
Nitric oxide biosynthetic process
(GO:0006809)
Omega-hydroxylase p450 pathway
(GO:0097267)
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:0016712)
Positive regulation of angiogenesis
(GO:0045766)
Positive regulation of apoptotic process
(GO:0043065)
Positive regulation of dna biosynthetic process
(GO:2000573)
Positive regulation of reactive oxygen species metabolic process
(GO:2000379)
Positive regulation of receptor signaling pathway via jak-stat
(GO:0046427)
Positive regulation of smooth muscle cell migration
(GO:0014911)
Positive regulation of translation
(GO:0045727)
Positive regulation of vascular endothelial growth factor production
(GO:0010575)
Protein binding
(GO:0005515)
Regulation of reactive oxygen species metabolic process
(GO:2000377)
Response to 3-methylcholanthrene
(GO:1904681)
Response to arsenic-containing substance
(GO:0046685)
Response to dexamethasone
(GO:0071548)
Response to estradiol
(GO:0032355)
Response to follicle-stimulating hormone
(GO:0032354)
Response to indole-3-methanol
(GO:0071680)
Response to nutrient
(GO:0007584)
Retinal blood vessel morphogenesis
(GO:0061304)
Retinal metabolic process
(GO:0042574)
Retinol metabolic process
(GO:0042572)
Steroid metabolic process
(GO:0008202)
Sterol metabolic process
(GO:0016125)
Toxin metabolic process
(GO:0009404)
Trabecular meshwork development
(GO:0002930)
Xenobiotic metabolic process
(GO:0006805)

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

Cell Name: T-helper 17 cell (CL0000899)
Fold Change: 6.22
Marker Score: 4080.5
Cell Name: fibroblast of mammary gland (CL0002555)
Fold Change: 3.36
Marker Score: 114472.5
Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: 2.6
Marker Score: 10874
Cell Name: keratocyte (CL0002363)
Fold Change: 2.09
Marker Score: 480
Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
Fold Change: 2
Marker Score: 583
Cell Name: medullary thymic epithelial cell (CL0002365)
Fold Change: 1.87
Marker Score: 3066
Cell Name: fibroblast of breast (CL4006000)
Fold Change: 1.8
Marker Score: 1025
Cell Name: cortical thymic epithelial cell (CL0002364)
Fold Change: 1.74
Marker Score: 6441
Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
Fold Change: 1.65
Marker Score: 689
Cell Name: mammary gland epithelial cell (CL0002327)
Fold Change: 1.65
Marker Score: 586
Cell Name: decidual cell (CL2000002)
Fold Change: 1.62
Marker Score: 6965
Cell Name: kidney interstitial fibroblast (CL1000692)
Fold Change: 1.59
Marker Score: 3067
Cell Name: inflammatory cell (CL0009002)
Fold Change: 1.59
Marker Score: 683
Cell Name: myoepithelial cell of mammary gland (CL0002324)
Fold Change: 1.57
Marker Score: 7692
Cell Name: mesenchymal stem cell (CL0000134)
Fold Change: 1.54
Marker Score: 2371
Cell Name: preosteoblast (CL0007010)
Fold Change: 1.48
Marker Score: 419
Cell Name: fibroblast of lung (CL0002553)
Fold Change: 1.47
Marker Score: 3846
Cell Name: mural cell (CL0008034)
Fold Change: 1.47
Marker Score: 168120
Cell Name: pancreatic stellate cell (CL0002410)
Fold Change: 1.44
Marker Score: 907.5
Cell Name: stromal cell of ovary (CL0002132)
Fold Change: 1.42
Marker Score: 16029
Cell Name: vascular leptomeningeal cell (CL4023051)
Fold Change: 1.4
Marker Score: 1612
Cell Name: endothelial cell of sinusoid (CL0002262)
Fold Change: 1.39
Marker Score: 338
Cell Name: fibroblast of connective tissue of prostate (CL1000299)
Fold Change: 1.37
Marker Score: 340
Cell Name: epithelial cell of urethra (CL1000296)
Fold Change: 1.36
Marker Score: 1068
Cell Name: prostate stromal cell (CL0002622)
Fold Change: 1.35
Marker Score: 340
Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
Fold Change: 1.3
Marker Score: 72820
Cell Name: basal cell of prostate epithelium (CL0002341)
Fold Change: 1.3
Marker Score: 3163
Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
Fold Change: 1.29
Marker Score: 3457
Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
Fold Change: 1.28
Marker Score: 1302
Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
Fold Change: 1.24
Marker Score: 841
Cell Name: immature innate lymphoid cell (CL0001082)
Fold Change: 1.22
Marker Score: 2484
Cell Name: cell in vitro (CL0001034)
Fold Change: 1.17
Marker Score: 40609
Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
Fold Change: 1.16
Marker Score: 1790
Cell Name: transit amplifying cell of small intestine (CL0009012)
Fold Change: 1.16
Marker Score: 479
Cell Name: uterine smooth muscle cell (CL0002601)
Fold Change: 1.13
Marker Score: 1474
Cell Name: retinal blood vessel endothelial cell (CL0002585)
Fold Change: 1.13
Marker Score: 271
Cell Name: ciliary muscle cell (CL1000443)
Fold Change: 1.09
Marker Score: 2390.5
Cell Name: classical monocyte (CL0000860)
Fold Change: 1.08
Marker Score: 4498
Cell Name: granulocyte monocyte progenitor cell (CL0000557)
Fold Change: 1.07
Marker Score: 678.5
Cell Name: glandular epithelial cell (CL0000150)
Fold Change: 1.06
Marker Score: 2612
Cell Name: myofibroblast cell (CL0000186)
Fold Change: 1.04
Marker Score: 1288
Cell Name: early T lineage precursor (CL0002425)
Fold Change: 1.02
Marker Score: 783
Cell Name: adventitial cell (CL0002503)
Fold Change: 1.02
Marker Score: 251
Cell Name: bladder urothelial cell (CL1001428)
Fold Change: 1
Marker Score: 1480
Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
Fold Change: 1
Marker Score: 71779
Cell Name: forebrain radial glial cell (CL0013000)
Fold Change: 1
Marker Score: 48003
Cell Name: endocardial cell (CL0002350)
Fold Change: 0.99
Marker Score: 558
Cell Name: parietal epithelial cell (CL1000452)
Fold Change: 0.98
Marker Score: 357
Cell Name: absorptive cell (CL0000212)
Fold Change: 0.98
Marker Score: 30404
Cell Name: prostate gland microvascular endothelial cell (CL2000059)
Fold Change: 0.98
Marker Score: 380
Cell Name: vascular lymphangioblast (CL0005022)
Fold Change: 0.98
Marker Score: 1651
Cell Name: tuft cell of colon (CL0009041)
Fold Change: 0.97
Marker Score: 501
Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
Fold Change: 0.96
Marker Score: 454
Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 0.95
Marker Score: 2410
Cell Name: bronchus fibroblast of lung (CL2000093)
Fold Change: 0.94
Marker Score: 1287
Cell Name: transit amplifying cell (CL0009010)
Fold Change: 0.92
Marker Score: 5276
Cell Name: small intestine goblet cell (CL1000495)
Fold Change: 0.92
Marker Score: 369
Cell Name: abnormal cell (CL0001061)
Fold Change: 0.91
Marker Score: 2730
Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 0.89
Marker Score: 321
Cell Name: lung macrophage (CL1001603)
Fold Change: 0.88
Marker Score: 1004
Cell Name: endothelial cell of vascular tree (CL0002139)
Fold Change: 0.87
Marker Score: 1269
Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.87
Marker Score: 5271
Cell Name: fibroblast of cardiac tissue (CL0002548)
Fold Change: 0.84
Marker Score: 5057
Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
Fold Change: 0.83
Marker Score: 263
Cell Name: CD14-positive monocyte (CL0001054)
Fold Change: 0.78
Marker Score: 1936
Cell Name: intestinal epithelial cell (CL0002563)
Fold Change: 0.77
Marker Score: 1251
Cell Name: brush cell (CL0002204)
Fold Change: 0.77
Marker Score: 699
Cell Name: pulmonary artery endothelial cell (CL1001568)
Fold Change: 0.76
Marker Score: 657
Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
Fold Change: 0.76
Marker Score: 822
Cell Name: Cajal-Retzius cell (CL0000695)
Fold Change: 0.76
Marker Score: 391
Cell Name: adipose microvascular endothelial cell (CL2000072)
Fold Change: 0.75
Marker Score: 223
Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 0.74
Marker Score: 3117
Cell Name: Leydig cell (CL0000178)
Fold Change: 0.74
Marker Score: 799
Cell Name: reticular cell (CL0000432)
Fold Change: 0.73
Marker Score: 268
Cell Name: smooth muscle cell of prostate (CL1000487)
Fold Change: 0.73
Marker Score: 186
Cell Name: fibroblast (CL0000057)
Fold Change: 0.73
Marker Score: 704
Cell Name: pigmented ciliary epithelial cell (CL0002303)
Fold Change: 0.71
Marker Score: 240.5
Cell Name: neutrophil progenitor cell (CL0000834)
Fold Change: 0.69
Marker Score: 178
Cell Name: osteoblast (CL0000062)
Fold Change: 0.69
Marker Score: 370.5
Cell Name: type II pneumocyte (CL0002063)
Fold Change: 0.68
Marker Score: 4422
Cell Name: vein endothelial cell (CL0002543)
Fold Change: 0.68
Marker Score: 612
Cell Name: supporting cell (CL0000630)
Fold Change: 0.67
Marker Score: 1251
Cell Name: theca cell (CL0000503)
Fold Change: 0.66
Marker Score: 476
Cell Name: skeletal muscle fibroblast (CL0011027)
Fold Change: 0.66
Marker Score: 437
Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
Fold Change: 0.66
Marker Score: 6203.5
Cell Name: secretory cell (CL0000151)
Fold Change: 0.66
Marker Score: 1202
Cell Name: endothelial cell of artery (CL1000413)
Fold Change: 0.65
Marker Score: 270
Cell Name: epicardial adipocyte (CL1000309)
Fold Change: 0.64
Marker Score: 312
Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
Fold Change: 0.63
Marker Score: 540
Cell Name: elicited macrophage (CL0000861)
Fold Change: 0.63
Marker Score: 3822
Cell Name: precursor B cell (CL0000817)
Fold Change: 0.62
Marker Score: 413
Cell Name: stromal cell (CL0000499)
Fold Change: 0.62
Marker Score: 727
Cell Name: gut absorptive cell (CL0000677)
Fold Change: 0.61
Marker Score: 393
Cell Name: blood cell (CL0000081)
Fold Change: 0.61
Marker Score: 7111
Cell Name: choroid plexus epithelial cell (CL0000706)
Fold Change: 0.61
Marker Score: 559
Cell Name: basal epithelial cell of prostatic duct (CL0002236)
Fold Change: 0.6
Marker Score: 535
Cell Name: interstitial cell of ovary (CL0002094)
Fold Change: 0.6
Marker Score: 3904
Cell Name: pneumocyte (CL0000322)
Fold Change: 0.6
Marker Score: 964
Cell Name: luminal cell of prostate epithelium (CL0002340)
Fold Change: 0.59
Marker Score: 345
Cell Name: endothelial cell of lymphatic vessel (CL0002138)
Fold Change: 0.59
Marker Score: 367

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**Key characteristics:** - The CYP1B1 gene is located on chromosome 15q21.1. - It is a single-exon gene that encodes a protein of 532 amino acids. - The protein is expressed in a variety of cell types, including T-helper 17 cells, fibroblasts, epithelial cells, and immune cells. **Pathways and functions:** - CYP1B1 is involved in the metabolism of arachidonic acid, which is a precursor for the synthesis of eicosanoids. - Eicosanoids are involved in a variety of physiological processes, including inflammation, immune responses, and lipid metabolism. - The CYP1B1 enzyme is also involved in the metabolism of other chemicals, including fatty acids, cholesterol, and bile acids. **Clinical significance:** - Mutations in the CYP1B1 gene have been linked to the development of glaucoma, a progressive eye disease characterized by the loss of vision. - CYP1B1 is also involved in the metabolism of other chemicals that are used in the treatment of glaucoma, such as brimonidine and timolol. - Therefore, mutations in the CYP1B1 gene can lead to the development of glaucoma. **Additional information:** - CYP1B1 is a member of the cytochrome P450 family of enzymes, which are responsible for the metabolism of a wide variety of chemicals. - CYP1B1 is a highly expressed protein in the liver, where it is involved in the metabolism of drugs and other chemicals. - The CYP1B1 gene is also expressed in other tissues, including the heart, lungs, and brain.

Disclaimer: This summary is generated by an AI language model and may contain inaccuracies or hallucinations. However, it is cross-referenced with curated gene expression data from major biological sources. Please verify the information before use.

CYPIB1
Q53TK1_HUMAN

Genular Protein ID: 3801965362

Symbol: CP1B1_HUMAN

Name: CYPIB1

UniProtKB Accession Codes:

Q16678 Q5TZW8 Q93089 Q9H316

Database IDs:

Citations:

PubMed ID: 8175734

Title: Complete cDNA sequence of a human dioxin-inducible mRNA identifies a new gene subfamily of cytochrome P450 that maps to chromosome 2.

PubMed ID: 8175734

DOI: 10.1016/s0021-9258(17)36803-5

PubMed ID: 8910454

Title: Isolation and characterization of the human cytochrome P450 CYP1B1 gene.

PubMed ID: 8910454

DOI: 10.1074/jbc.271.45.28324

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 10426814

Title: Catalytic properties of polymorphic human cytochrome P450 1B1 variants.

PubMed ID: 10426814

DOI: 10.1093/carcin/20.8.1607

PubMed ID: 10681376

Title: Biosynthesis of all-trans-retinoic acid from all-trans-retinol: catalysis of all-trans-retinol oxidation by human P-450 cytochromes.

PubMed ID: 10681376

PubMed ID: 11555828

Title: Role of human cytochrome P450 1A1, 1A2, 1B1, and 3A4 in the 2-, 4-, and 16alpha-hydroxylation of 17beta-estradiol.

PubMed ID: 11555828

DOI: 10.1053/meta.2001.25592

PubMed ID: 12865317

Title: Characterization of the oxidative metabolites of 17beta-estradiol and estrone formed by 15 selectively expressed human cytochrome p450 isoforms.

PubMed ID: 12865317

DOI: 10.1210/en.2003-0192

PubMed ID: 15258110

Title: Metabolism of retinoids and arachidonic acid by human and mouse cytochrome P450 1b1.

PubMed ID: 15258110

DOI: 10.1124/dmd.32.8.840

PubMed ID: 19005183

Title: CYP1B1 expression promotes the proangiogenic phenotype of endothelium through decreased intracellular oxidative stress and thrombospondin-2 expression.

PubMed ID: 19005183

DOI: 10.1182/blood-2008-03-145219

PubMed ID: 20972997

Title: Analysis of epoxyeicosatrienoic acids by chiral liquid chromatography/electron capture atmospheric pressure chemical ionization mass spectrometry using [13C]-analog internal standards.

PubMed ID: 20972997

DOI: 10.1002/rcm.4760

PubMed ID: 21068195

Title: Human CYP2S1 metabolizes cyclooxygenase- and lipoxygenase-derived eicosanoids.

PubMed ID: 21068195

DOI: 10.1124/dmd.110.035121

PubMed ID: 22888116

Title: Increase of human CYP1B1 activities by acidic phospholipids and kinetic deuterium isotope effects on CYP1B1 substrate oxidation.

PubMed ID: 22888116

DOI: 10.1093/jb/mvs087

PubMed ID: 22935222

Title: The citrus flavanone naringenin suppresses CYP1B1 transactivation through antagonising xenobiotic-responsive element binding.

PubMed ID: 22935222

DOI: 10.1017/s0007114512003595

PubMed ID: 23821647

Title: Specificity determinants of CYP1B1 estradiol hydroxylation.

PubMed ID: 23821647

DOI: 10.1124/mol.113.087700

PubMed ID: 21147782

Title: Structural characterization of the complex between alpha-naphthoflavone and human cytochrome P450 1B1.

PubMed ID: 21147782

DOI: 10.1074/jbc.m110.204420

PubMed ID: 9463332

Title: Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia.

PubMed ID: 9463332

DOI: 10.1086/301725

PubMed ID: 9497261

Title: Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1.

PubMed ID: 9497261

DOI: 10.1086/301764

PubMed ID: 9823305

Title: Association of cytochrome P450 1B1 (CYP1B1) polymorphism with steroid receptor status in breast cancer.

PubMed ID: 9823305

PubMed ID: 10227395

Title: Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma.

PubMed ID: 10227395

PubMed ID: 10655546

Title: Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus.

PubMed ID: 10655546

DOI: 10.1093/hmg/9.3.367

PubMed ID: 11184479

Title: Novel compound heterozygous mutations in the cytochrome P4501B1 gene (CYP1B1) in a Japanese patient with primary congenital glaucoma.

PubMed ID: 11184479

DOI: 10.1076/1381-6810(200009)21:3;1-z;ft191

PubMed ID: 10739169

Title: Association of CYP1B1 genetic polymorphism with incidence to breast and lung cancer.

PubMed ID: 10739169

DOI: 10.1097/00008571-200002000-00004

PubMed ID: 11527932

Title: Novel cytochrome P4501B1 (CYP1B1) gene mutations in Japanese patients with primary congenital glaucoma.

PubMed ID: 11527932

PubMed ID: 11403040

Title: Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly.

PubMed ID: 11403040

DOI: 10.1136/jmg.38.5.324

PubMed ID: 11774072

Title: Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene.

PubMed ID: 11774072

DOI: 10.1086/338709

PubMed ID: 11980847

Title: Identification of novel mutations causing familial primary congenital glaucoma in Indian pedigrees.

PubMed ID: 11980847

PubMed ID: 12036985

Title: Molecular genetics of primary congenital glaucoma in Brazil.

PubMed ID: 12036985

PubMed ID: 11854439

Title: Functional analysis of six different polymorphic CYP1B1 enzyme variants found in an Ethiopian population.

PubMed ID: 11854439

DOI: 10.1124/mol.61.3.586

PubMed ID: 14640114

Title: Gene symbol: CYP1B1. Disease: glaucoma, primary congenital.

PubMed ID: 14640114

DOI: 10.1007/s00439-003-1035-0

PubMed ID: 14635112

Title: Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France.

PubMed ID: 14635112

DOI: 10.1002/humu.9197

PubMed ID: 12525557

Title: CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patients.

PubMed ID: 12525557

DOI: 10.1136/jmg.40.1.e9

PubMed ID: 15342693

Title: CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma.

PubMed ID: 15342693

DOI: 10.1136/jmg.2004.020024

PubMed ID: 15475877

Title: Mutation spectrum of the CYP1B1 gene in Indian primary congenital glaucoma patients.

PubMed ID: 15475877

PubMed ID: 15255109

Title: Cytochrome P4501B1 mutations cause only part of primary congenital glaucoma in Ecuador.

PubMed ID: 15255109

DOI: 10.1076/opge.25.1.3.28999

PubMed ID: 16490498

Title: Molecular and clinical evaluation of primary congenital glaucoma in Kuwait.

PubMed ID: 16490498

DOI: 10.1016/j.ajo.2005.11.001

PubMed ID: 16688110

Title: Primary role of CYP1B1 in Indian juvenile-onset POAG patients.

PubMed ID: 16688110

PubMed ID: 16735994

Title: Primary congenital glaucoma and Rieger's anomaly: extended haplotypes reveal founder effects for eight distinct CYP1B1 mutations.

PubMed ID: 16735994

PubMed ID: 16862072

Title: Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma.

PubMed ID: 16862072

PubMed ID: 18470941

Title: Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme.

PubMed ID: 18470941

DOI: 10.1002/humu.20786

Sequence Information:

Length: 543
Mass: 60846
Checksum: 46B6DA7368F63EA2
Sequence:

MGTSLSPNDP WPLNPLSIQQ TTLLLLLSVL ATVHVGQRLL RQRRRQLRSA PPGPFAWPLI 
GNAAAVGQAA HLSFARLARR YGDVFQIRLG SCPIVVLNGE RAIHQALVQQ GSAFADRPAF 
ASFRVVSGGR SMAFGHYSEH WKVQRRAAHS MMRNFFTRQP RSRQVLEGHV LSEARELVAL 
LVRGSADGAF LDPRPLTVVA VANVMSAVCF GCRYSHDDPE FRELLSHNEE FGRTVGAGSL 
VDVMPWLQYF PNPVRTVFRE FEQLNRNFSN FILDKFLRHC ESLRPGAAPR DMMDAFILSA 
EKKAAGDSHG GGARLDLENV PATITDIFGA SQDTLSTALQ WLLLLFTRYP DVQTRVQAEL 
DQVVGRDRLP CMGDQPNLPY VLAFLYEAMR FSSFVPVTIP HATTANTSVL GYHIPKDTVV 
FVNQWSVNHD PLKWPNPENF DPARFLDKDG LINKDLTSRV MIFSVGKRRC IGEELSKMQL 
FLFISILAHQ CDFRANPNEP AKMNFSYGLT IKPKSFKVNV TLRESMELLD SAVQNLQAKE 
TCQ

Genular Protein ID: 2092858289

Symbol: Q53TK1_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q53TK1

Database IDs:

Citations:

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

Sequence Information:

Length: 543
Mass: 60832
Checksum: 71BB6CA8055122DF
Sequence:

MGTSLSPNDP WPLNPLSIQQ TTLLLLLSVL ATVHVGQRLL RQRRRQLRSA PPGPFAWPLI 
GNAAAVGQAA HLSFARLARR YGDVFQIRLG SCPIVVLNGE RAIHQALVQQ GSAFADRPAF 
ASFRVVSGGR SMAFGHYSEH WKVQRRAAHS MMRNFFTRQP RSRQVLEGHV LSEARELVAL 
LVRGSADGAF LDPRPLTVVA VANVMSAVCF GCRYSHDDPE FRELLSHNEE FGRTVGAGSL 
VDVMPWLQYF PNPVRTVFRE FEQLNRNFSN FILDKFLRHC ESLRPGAAPR DMMDAFILSA 
EKKAAGDSHG GGARLDLENV PATITDIFGA SQDTLSTALQ WLLLLFTRYP DVQTRVQAEL 
DQVVGRDRLP CMGDQPNLPY VLAFLYEAMR FSSFVPVTIP HATTANTSVL GYHIPKDTVV 
FVNQWSVNHD PVKWPNPENF DPARFLDKDG LINKDLTSRV MIFSVGKRRC IGEELSKMQL 
FLFISILAHQ CDFRANPNEP AKMNFSYGLT IKPKSFKVNV TLRESMELLD SAVQNLQAKE 
TCQ

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.

Details for: CYP1B1

Associated with

Cells (max top 100)

Other Information

Complete cDNA sequence of a human dioxin-inducible mRNA identifies a new gene subfamily of cytochrome P450 that maps to chromosome 2. PubMed ID: 8175734

Isolation and characterization of the human cytochrome P450 CYP1B1 gene. PubMed ID: 8910454

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Catalytic properties of polymorphic human cytochrome P450 1B1 variants. PubMed ID: 10426814

Biosynthesis of all-trans-retinoic acid from all-trans-retinol: catalysis of all-trans-retinol oxidation by human P-450 cytochromes. PubMed ID: 10681376

Role of human cytochrome P450 1A1, 1A2, 1B1, and 3A4 in the 2-, 4-, and 16alpha-hydroxylation of 17beta-estradiol. PubMed ID: 11555828

Characterization of the oxidative metabolites of 17beta-estradiol and estrone formed by 15 selectively expressed human cytochrome p450 isoforms. PubMed ID: 12865317

Metabolism of retinoids and arachidonic acid by human and mouse cytochrome P450 1b1. PubMed ID: 15258110

CYP1B1 expression promotes the proangiogenic phenotype of endothelium through decreased intracellular oxidative stress and thrombospondin-2 expression. PubMed ID: 19005183

Analysis of epoxyeicosatrienoic acids by chiral liquid chromatography/electron capture atmospheric pressure chemical ionization mass spectrometry using [13C]-analog internal standards. PubMed ID: 20972997

Human CYP2S1 metabolizes cyclooxygenase- and lipoxygenase-derived eicosanoids. PubMed ID: 21068195

Increase of human CYP1B1 activities by acidic phospholipids and kinetic deuterium isotope effects on CYP1B1 substrate oxidation. PubMed ID: 22888116

The citrus flavanone naringenin suppresses CYP1B1 transactivation through antagonising xenobiotic-responsive element binding. PubMed ID: 22935222

Specificity determinants of CYP1B1 estradiol hydroxylation. PubMed ID: 23821647

Structural characterization of the complex between alpha-naphthoflavone and human cytochrome P450 1B1. PubMed ID: 21147782

Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia. PubMed ID: 9463332

Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1. PubMed ID: 9497261

Association of cytochrome P450 1B1 (CYP1B1) polymorphism with steroid receptor status in breast cancer. PubMed ID: 9823305

Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma. PubMed ID: 10227395

Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus. PubMed ID: 10655546

Novel compound heterozygous mutations in the cytochrome P4501B1 gene (CYP1B1) in a Japanese patient with primary congenital glaucoma. PubMed ID: 11184479

Association of CYP1B1 genetic polymorphism with incidence to breast and lung cancer. PubMed ID: 10739169

Novel cytochrome P4501B1 (CYP1B1) gene mutations in Japanese patients with primary congenital glaucoma. PubMed ID: 11527932

Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly. PubMed ID: 11403040

Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. PubMed ID: 11774072

Identification of novel mutations causing familial primary congenital glaucoma in Indian pedigrees. PubMed ID: 11980847

Molecular genetics of primary congenital glaucoma in Brazil. PubMed ID: 12036985

Functional analysis of six different polymorphic CYP1B1 enzyme variants found in an Ethiopian population. PubMed ID: 11854439

Gene symbol: CYP1B1. Disease: glaucoma, primary congenital. PubMed ID: 14640114

Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France. PubMed ID: 14635112

CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patients. PubMed ID: 12525557

CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma. PubMed ID: 15342693

Mutation spectrum of the CYP1B1 gene in Indian primary congenital glaucoma patients. PubMed ID: 15475877

Cytochrome P4501B1 mutations cause only part of primary congenital glaucoma in Ecuador. PubMed ID: 15255109

Molecular and clinical evaluation of primary congenital glaucoma in Kuwait. PubMed ID: 16490498

Primary role of CYP1B1 in Indian juvenile-onset POAG patients. PubMed ID: 16688110

Primary congenital glaucoma and Rieger's anomaly: extended haplotypes reveal founder effects for eight distinct CYP1B1 mutations. PubMed ID: 16735994

Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma. PubMed ID: 16862072

Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme. PubMed ID: 18470941

The sequence of the human genome. PubMed ID: 11181995