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FLASH GENE
Symbol CYP1B1 contributors: mct - updated : 16-03-2011
HGNC name cytochrome P450, family 1, subfamily B, polypeptide 1
HGNC id 2597
Corresponding disease
GLC3A glaucoma, primary 3A, congenital (buphtalmos)
PTA2 Peters anomaly
Location 2p22.2      Physical location : 38.294.745 - 38.303.323
Synonym name
  • aryl hydrocarbon hydroxylase
  • flavoprotein-linked monooxygenase
  • microsomal monooxygenase
  • cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile)
  • Synonym symbol(s) CP1B
    EC.number 1.14.14.1
    DNA
    TYPE functioning gene
    STRUCTURE 8.58 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    text structure
  • the first exon is not coded
  • MAPPING cloned Y linked N status confirmed
    Physical map
    MRPL50P1 2p22.3 solute carrier family 8 (sodium/calcium exchanger), member 1 CRIM1 2p21 cysteine-rich motor neuron 1 FEZ2 2p21 fasciculation and elongation protein zeta 2 (zygin II) VIT 2p22-p21 vitrin STRN 2p22-p21 striatin, calmodulin binding protein KIAA1414 2p22.3 KIAA1414 protein FLJ38348 2p22.3 hypothetical protein FLJ38348 PRKR 2p22-p21 protein kinase, interferon-inducible double stranded RNA dependent LOC391365 2 similar to sulfotransferase CBF2 2p23.1 similar to sulfotransferase PRO1853 2p22.3 hypothetical protein PRO1853 PRKCN 2p21 protein kinase C, nu QPCT 2p22.3 glutaminyl-peptide cyclotransferase (glutaminyl cyclase) CDC42EP3 2p21 CDC42 effector protein (Rho GTPase binding) 3 LOC344382 2p22.3 similar to UNR-interacting protein (WD-40 repeat protein PT-WD) (MAP activator with WD repeats) FLJ32954 2p22.3 hypothetical protein FLJ32954 CYP1B1 2p21 cytochrome P450, family 1, subfamily B, polypeptide 1 MGC34824 2p22.3 hypothetical protein MGC34824 LOC391366 2 similar to ribosomal protein L7 LOC391367 2 similar to Glyceraldehyde 3-phosphate dehydrogenase, liver (GAPDH) ARL6IP2 2p22.3 similar to Glyceraldehyde 3-phosphate dehydrogenase, liver (GAPDH) LOC388940 2 LOC388940 LOC220717 2p22.3 similar to BLOCK 23 LOC92906 2p22.3 hypothetical protein BC008217 LOC130589 SFRS7 2p22-p21 splicing factor, arginine/serine-rich 7, 35kDa GEMIN6 2p22.3 gem (nuclear organelle) associated protein 6 DHX57 2p22.3 DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 ASSP2 6q14.3-q15 argininosuccinate synthetase pseudogene 2 LOC387626 2 hypothetical gene supported by NM_144995 MOPT  protein containing single MORN motif in testis SOS1 2p22-p21 son of sevenless homolog 1 (Drosophila) LOC344387 2p22.3 similar to cyclin-dependent kinase-like 1 (CDC2-related kinase) MAP4K3 2p22.2 mitogen-activated protein kinase kinase kinase kinase 3 MGC33926 2p22.2 hypothetical protein MGC33926 C2orf8 2p22-p21 chromosome 2 open reading frame 8 LOC391368 2 similar to Zinc finger protein 19 (Zinc finger protein KOX12) SLC8A1 2p23-p22 solute carrier family 8 (sodium/calcium exchanger), member 1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 5160 - 543 - 1996 8910454
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   lowly
    Digestiveintestinelarge intestinecolon highly
     intestinesmall intestine  lowly
    Lymphoid/Immunespleen   highly
     thymus   highly
    Nervousbrain   lowly
    Reproductivefemale systemplacenta  lowly
     female systemovary  highly
     male systemprostate  highly
     male systemseminal vesicles  lowly
    Respiratorylung   moderately
    Urinarykidney   highly
    Visualeyeanterior segment   
     eyeuvea   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatum  lowly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticleukocyte
    cell lineage expressed in human nonpigmented ciliary epithelial cell line
    cell lines NHEK
    fluid/secretion
    at STAGE
    physiological period embryo, fetal
    Text eye, trabecular meshwork, fetal thymus
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    conjugated HemoP
    mono polymer monomer
    HOMOLOGY
    interspecies ortholog to Cyp1b1, Mus musculus
    ortholog to Cyp1b1, Rattus norvegicus
    ortholog to cyp1b1, Danio rerio
    Homologene
    FAMILY
  • cytochrome P450 family
  • CATEGORY enzyme , transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytosolic,microsome
    basic FUNCTION
  • cytochrome P450, possibly involved in the metabolism of substances active in the eye growth and differentiation
  • in liver microsomes involved in an NADPH-dependent electron transport pathway
  • playing a role in 4-hydroxylation of 17-beta-estradiol
  • inhibiting Na+,K+ ATPase in the cornea
  • may be an important source of retinoic acid
  • during embryonic and early postnatal development
  • monooxygenase, acting to form or degrade some endobiotic compound that is necessary for proper development of the filtering structures
  • involved in many metabolic processes including androgen metabolism
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development , electron transport , detoxification
    text
  • metabolizes endogenous compounds such as steroid hormones, fatty acids, and xenobiotics, including drugs and carcinogens
  • putative role in ocular development
  • PATHWAY
    metabolism drug
    signaling sensory transduction/vision
    a component
    INTERACTION
    DNA
    RNA
  • CYP1B1 mRNA is strongly and dose dependently induced by TCDD
  • small molecule cofactor, nucleotide,
  • NADPH, heme
  • protein
  • flavoprotein P450 oxidoreductase (POR)
  • modifier of MYOC (role in digenic mechanism of GLC1A)
  • cell & other
    REGULATION
    activated by in retinal ganglion cells during development,
    and overexpression of the gene increased
    survival of the cells
    induced by dioxin
    by 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD)
    Other might be regulated by NR5A1 and CREB1
    ASSOCIATED DISORDERS
    corresponding disease(s) GLC3A , PTA2
    related resource Human Cytochrome P450 (CYP) Allele Nomenclature Committee
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in high-grade PIN and in prostate cancer
    tumoral     --low  
    by hypermethylation in colorectal cancer
    Susceptibility
  • to the development of glaucoma (GLC1N), primary open angle glaucoma (PCG)
  • to endometrial cancer
  • Variant & Polymorphism SNP , other
  • combination of R368H and Myoc mutation correlates with earlier manifestation of GLC1A
  • polymorphisms on exons 2 and 3 increasing the risk of endometrial cancer
  • rs2567206 (T2805C) significantly associated with PCG (
  • heterozygous missens mutations with absent or reduced relative enzymatic activity could be a risk factor for primary open-angle glaucoma
  • Candidate gene for Peters anomaly
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Cyp1b1-/- mice have ocular drainage structure abnormalities resembling those reported in human PCG patients. In Cyp1b1-/- mice tyrosinase gene (Tyr) acts as a modifier of the drainage structure phenotype