Details for: CYP1B1

Gene ID: 1545

Symbol: CYP1B1

Ensembl ID: ENSG00000138061

Description: cytochrome P450 family 1 subfamily B member 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 149.1528
    Cell Significance Index: -23.2000
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 92.2161
    Cell Significance Index: -23.3900
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 46.2592
    Cell Significance Index: -21.8400
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 45.7838
    Cell Significance Index: -18.6000
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 44.4414
    Cell Significance Index: -22.8600
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 18.7841
    Cell Significance Index: -23.1600
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 9.6558
    Cell Significance Index: 276.7900
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 5.8457
    Cell Significance Index: 749.3900
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 5.6005
    Cell Significance Index: -22.1000
  • Cell Name: inflammatory cell (CL0009002)
    Fold Change: 4.0296
    Cell Significance Index: 23.1100
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 2.7734
    Cell Significance Index: 49.0100
  • Cell Name: peg cell (CL4033014)
    Fold Change: 2.3962
    Cell Significance Index: 55.3600
  • Cell Name: prostate gland microvascular endothelial cell (CL2000059)
    Fold Change: 1.7837
    Cell Significance Index: 12.8100
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 1.6806
    Cell Significance Index: 103.0400
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 1.5609
    Cell Significance Index: 28.8500
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.3911
    Cell Significance Index: 759.7200
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 1.2210
    Cell Significance Index: 23.8300
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 1.1197
    Cell Significance Index: 12.7200
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 1.0399
    Cell Significance Index: 8.6000
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.9180
    Cell Significance Index: 405.8500
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: 0.7570
    Cell Significance Index: 4.6900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.6667
    Cell Significance Index: 423.4000
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.6421
    Cell Significance Index: 9.2200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.6182
    Cell Significance Index: 32.1200
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.6034
    Cell Significance Index: 77.9500
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.5198
    Cell Significance Index: 98.9200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.5178
    Cell Significance Index: 24.3400
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 0.5145
    Cell Significance Index: 7.9600
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 0.5107
    Cell Significance Index: 3.4600
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.4849
    Cell Significance Index: 913.0300
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.4546
    Cell Significance Index: 22.9700
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.4347
    Cell Significance Index: 50.6600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.4214
    Cell Significance Index: 51.8200
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.4195
    Cell Significance Index: 41.5000
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.3873
    Cell Significance Index: 27.3900
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.3033
    Cell Significance Index: 273.8800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.2535
    Cell Significance Index: 45.7100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.2501
    Cell Significance Index: 34.3500
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.2041
    Cell Significance Index: 33.2000
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.1121
    Cell Significance Index: 2.3300
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.0911
    Cell Significance Index: 1.3100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0830
    Cell Significance Index: 60.8300
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.0591
    Cell Significance Index: 6.4300
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.0517
    Cell Significance Index: 32.2600
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0360
    Cell Significance Index: 16.3500
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0276
    Cell Significance Index: 0.9700
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: 0.0217
    Cell Significance Index: 0.3300
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0147
    Cell Significance Index: 11.1300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0122
    Cell Significance Index: 22.5800
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0109
    Cell Significance Index: 2.1900
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0030
    Cell Significance Index: -4.6100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0032
    Cell Significance Index: -0.1800
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.0059
    Cell Significance Index: -0.6700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0116
    Cell Significance Index: -8.5800
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0156
    Cell Significance Index: -0.4500
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0165
    Cell Significance Index: -9.3100
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0165
    Cell Significance Index: -22.5000
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0312
    Cell Significance Index: -0.7800
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: -0.0336
    Cell Significance Index: -0.4300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0395
    Cell Significance Index: -5.7400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0442
    Cell Significance Index: -8.7700
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0470
    Cell Significance Index: -2.1300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0472
    Cell Significance Index: -16.9300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0500
    Cell Significance Index: -8.5400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0535
    Cell Significance Index: -6.1300
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0652
    Cell Significance Index: -13.7400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0703
    Cell Significance Index: -20.2400
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0885
    Cell Significance Index: -9.0400
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.0892
    Cell Significance Index: -2.6200
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.1017
    Cell Significance Index: -7.0300
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.1166
    Cell Significance Index: -1.8500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1189
    Cell Significance Index: -8.8700
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.1205
    Cell Significance Index: -2.6100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1322
    Cell Significance Index: -13.7600
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1461
    Cell Significance Index: -4.6800
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1540
    Cell Significance Index: -8.0200
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.1580
    Cell Significance Index: -4.3000
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.1679
    Cell Significance Index: -10.0800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.1710
    Cell Significance Index: -13.1300
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1970
    Cell Significance Index: -23.2400
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.2362
    Cell Significance Index: -5.0300
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2383
    Cell Significance Index: -18.8700
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.2504
    Cell Significance Index: -16.8400
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.3314
    Cell Significance Index: -8.8700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.3341
    Cell Significance Index: -8.9200
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.3548
    Cell Significance Index: -22.8900
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.3548
    Cell Significance Index: -9.1200
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.3612
    Cell Significance Index: -22.2000
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.3667
    Cell Significance Index: -23.1100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.3925
    Cell Significance Index: -10.9700
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.4026
    Cell Significance Index: -13.9900
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.4472
    Cell Significance Index: -18.3200
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.4707
    Cell Significance Index: -17.2800
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.4788
    Cell Significance Index: -7.2200
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.4810
    Cell Significance Index: -16.8500
  • Cell Name: theca cell (CL0000503)
    Fold Change: -0.4817
    Cell Significance Index: -2.8300
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.4958
    Cell Significance Index: -21.9300
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.4993
    Cell Significance Index: -23.2800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.5142
    Cell Significance Index: -27.0000
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.5457
    Cell Significance Index: -23.7300

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** CYP1B1 is a non-ribosomal protein encoded by a single gene located on human chromosome 2q35. It is a member of the cytochrome P450 superfamily, which is characterized by the presence of a heme group and a FAD (flavin adenine dinucleotide) cofactor. CYP1B1 is a monooxygenase enzyme, meaning it catalyzes the incorporation of one atom of oxygen into a substrate molecule. The enzyme is primarily expressed in the liver, but is also found in other tissues, including the retina, thyroid, and adrenal gland. **Pathways and Functions** CYP1B1 is involved in a wide range of metabolic pathways, including: 1. **Arachidonic acid metabolism**: CYP1B1 catalyzes the metabolism of arachidonic acid, a polyunsaturated fatty acid, to produce various eicosanoids, which are signaling molecules involved in inflammation and immune responses. 2. **Estrogen metabolism**: CYP1B1 is involved in the metabolism of estrogen, a steroid hormone, to its active metabolites, which play a crucial role in reproductive and developmental processes. 3. **Oxidative stress response**: CYP1B1 is involved in the regulation of reactive oxygen species (ROS) metabolism, which is essential for maintaining cellular homeostasis and preventing oxidative damage. 4. **Angiogenesis**: CYP1B1 is a positive regulator of angiogenesis, the process of new blood vessel formation, which is essential for tissue growth and development. **Clinical Significance** Mutations in the CYP1B1 gene have been associated with several diseases, including: 1. **Glaucoma**: Mutations in CYP1B1 have been identified as a cause of glaucoma, a group of eye conditions that can lead to vision loss. 2. **Cancer**: CYP1B1 is overexpressed in various types of cancer, including breast, prostate, and lung cancer, and is involved in the regulation of cell growth and apoptosis. 3. **Neurological disorders**: CYP1B1 is involved in the regulation of neurotransmitter metabolism and has been implicated in various neurological disorders, including Parkinson's disease and Alzheimer's disease. In conclusion, CYP1B1 is a multifunctional enzyme involved in a wide range of metabolic pathways, including arachidonic acid metabolism, estrogen metabolism, oxidative stress response, and angiogenesis. Mutations in the CYP1B1 gene have been associated with several diseases, including glaucoma, cancer, and neurological disorders, highlighting the importance of this enzyme in maintaining cellular homeostasis and preventing disease.

Genular Protein ID: 3801965362

Symbol: CP1B1_HUMAN

Name: CYPIB1

UniProtKB Accession Codes:

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:

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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.