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CYP1B1 Gene

protein-coding   GIFtS: 74
GCID: GC02M038295

Cytochrome P450, Family 1, Subfamily B, Polypeptide 1

(Previous names: cytochrome P450, subfamily I (dioxin-inducible), polypeptide...)
(Previous symbol: GLC3A)
  See CYP1B1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Cytochrome P450, Family 1, Subfamily B, Polypeptide 11 2     P4501B12
GLC3A1 2 5     Aryl Hydrocarbon Hydroxylase2
Cytochrome P450, Subfamily I (Dioxin-Inducible), Polypeptide 1 (Glaucoma
3, Primary Infantile)1 2
     Cytochrome P450 1B12
CYPIB12 3     Flavoprotein-Linked Monooxygenase2
EC 1.14.14.13 8     Microsomal Monooxygenase2
CP1B2     Xenobiotic Monooxygenase2

External Ids:    HGNC: 25971   Entrez Gene: 15452   Ensembl: ENSG000001380617   OMIM: 6017715   UniProtKB: Q166783   

Export aliases for CYP1B1 gene to outside databases

Previous GC identifers: GC02M038259 GC02M038441 GC02M038269 GC02M038206 GC02M038148 GC02M038034


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CYP1B1 Gene:
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are
monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids
and other lipids. The enzyme encoded by this gene localizes to the endoplasmic reticulum and metabolizes
procarcinogens such as polycyclic aromatic hydrocarbons and 17beta-estradiol. Mutations in this gene have been
associated with primary congenital glaucoma; therefore it is thought that the enzyme also metabolizes a signaling
molecule involved in eye development, possibly a steroid. (provided by RefSeq, Jul 2008)

GeneCards Summary for CYP1B1 Gene:
CYP1B1 (cytochrome P450, family 1, subfamily B, polypeptide 1) is a protein-coding gene. Diseases associated with CYP1B1 include buphthalmos, and glaucoma 3a, primary open angle, congenital, juvenile, or adult onset. GO annotations related to this gene include electron carrier activity and heme binding. An important paralog of this gene is CYP1A2.

UniProtKB/Swiss-Prot: CP1B1_HUMAN, Q16678
Function: Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is
involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated
compounds, including steroids, fatty acids, and xenobiotics
Function: Participates in the metabolism of an as-yet-unknown biologically active molecule that is a participant
in eye development

summary for CYP1B1 Gene:
Cytochrome P450 (CYP450) enzymes are a diverse group of catalysts that contains 57 members in humans. CYPs
are usually membrane-bound and are localized to the inner mitochondrial or endoplasmic reticular membrane.
CYPs have oxygenase activity and commonly catalyze redox reactions, involving the oxidation of the substrate
and reduction of water. This group of enzymes contain a heme ion within the active site, which is essential
for catalytic activity. CYPs have been found in all organisms tested and are ubiquitously expressed. They
are found at high levels in the liver, where they have an important role in metabolism of drugs and
endogenous toxic compounds (for example bilirubin). Most CYPs can metabolize numerous substrates and this
accounts for their major role in drug interactions. CYPs also have functions in steroid hormone synthesis,
cholesterol synthesis and vitamin D metabolism.

Gene Wiki entry for CYP1B1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NC_018913.2  NT_022184.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the CYP1B1 gene promoter:
         AhR   CREB   deltaCREB   MyoD   Arnt   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): CYP1B1 promoter sequence
   Search Chromatin IP Primers for CYP1B1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CYP1B1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p22.2   Ensembl cytogenetic band:  2p22.2   HGNC cytogenetic band: 2p22.2

CYP1B1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CYP1B1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M038295:  view genomic region     (about GC identifiers)

Start:
38,294,116 bp from pter      End:
38,337,044 bp from pter
Size:
42,929 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CP1B1_HUMAN, Q16678 (See protein sequence)
Recommended Name: Cytochrome P450 1B1  
Size: 543 amino acids; 60846 Da
Cofactor: Heme group
1 PDB 3D structure from and Proteopedia for CYP1B1:
3PM0 (3D)    
Secondary accessions: Q5TZW8 Q93089 Q9H316

Explore the universe of human proteins at neXtProt for CYP1B1: NX_Q16678

Explore proteomics data for CYP1B1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys142, Lys275
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for CYP1B1 (Q16678)
     GKRRCIGE  RRYGDVFQIRLGS 


    See CYP1B1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000095.2  
    ENSEMBL proteins: 
     ENSP00000260630   ENSP00000384972  
    Reactome Protein details: Q16678

    CYP1B1 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for CYP1B1
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    Novus Biologicals CYP1B1 Protein
    Novus Biologicals CYP1B1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CYP1B1

     
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    CYP1B1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of CYP1B1
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    Cloud-Clone Corp. ELISAs for CYP1B1
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    Search eBioscience for ELISAs for CYP1B1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CYP: Cytochrome P450s

    IUPHAR Guide to PHARMACOLOGY protein family classification: CYP1B1
    CYP1 family

    3 InterPro protein domains:
     IPR001128 Cyt_P450
     IPR017972 Cyt_P450_CS
     IPR002401 Cyt_P450_E_grp-I

    Graphical View of Domain Structure for InterPro Entry Q16678

    ProtoNet protein and cluster: Q16678

    1 Blocks protein domain: IPB002401 E-class P450 group I signature

    UniProtKB/Swiss-Prot: CP1B1_HUMAN, Q16678
    Similarity: Belongs to the cytochrome P450 family


    Find genes that share domains with CYP1B1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CP1B1_HUMAN, Q16678
    Function: Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is
    involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated
    compounds, including steroids, fatty acids, and xenobiotics
    Function: Participates in the metabolism of an as-yet-unknown biologically active molecule that is a participant
    in eye development
    Catalytic activity: RH + reduced flavoprotein + O(2) = ROH + oxidized flavoprotein + H(2)O
    Enzyme regulation: Enzyme activity is increased by liposomes containing anionic phospholipids, phosphatidic acid
    and cardiolipin
    Biophysicochemical properties: Kinetic parameters: KM=6.0 uM for 17-beta-estradiol; KM=17.0 uM for testosterone;
    KM=24.0 uM for progesterone; Vmax=14.95 nmol/min/mg enzyme for 17-beta-estradiol 4- hydroxylation; Vmax=6.9
    nmol/min/mg enzyme for 17-beta-estradiol 2- hydroxylation; Vmax=36.16 nmol/min/mg enzyme for testosterone 6-beta-
    hydroxylation; Vmax=9.86 nmol/min/mg enzyme for progesterone 6-beta- hydroxylation; Vmax=37.80 nmol/min/mg enzyme
    for progesterone 16-alpha- hydroxylation;
    Induction: By polycyclic aromatic hydrocarbons (PAH) and 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD)

         Genatlas biochemistry entry for CYP1B1:
    cytochrome p450,family I (aromatic compound inducible),member B1,expressed in ocular structures of the anterior
    uveal tract,possibly involved in the metabolism of substances active in the eye growth and differentiation

         Enzyme Number (IUBMB): EC 1.14.14.11 2

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004497monooxygenase activity TAS9097971
    GO:0005506iron ion binding IEA--
    GO:0016705oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen ----
    GO:0016712oxidoreductase 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 IDA10871058
    GO:0019825oxygen binding TAS9097971
         
    Find genes that share ontologies with CYP1B1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for CYP1B1:
     Decreased viability of wild-ty 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Cyp1b1):
     homeostasis/metabolism  tumorigenesis  vision/eye 

    Find genes that share phenotypes with CYP1B1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Cyp1b1tm1Gonz for CYP1B1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CYP1B1
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CYP1B1

    miRNA
    Products:
        
    miRTarBase miRNAs that target CYP1B1:
    hsa-mir-221-3p (MIRT024201), hsa-mir-124-3p (MIRT002598), hsa-mir-27b-3p (MIRT004826), hsa-mir-340-5p (MIRT019543)

    Block miRNA regulation of human, mouse, rat CYP1B1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CYP1B1 (see all 20):
    hsa-miR-148b* hsa-miR-429 hsa-miR-513a-5p hsa-miR-373* hsa-miR-380* hsa-miR-4314 hsa-miR-3613-3p hsa-miR-200b
    SwitchGear 3'UTR luciferase reporter plasmidCYP1B1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CYP1B1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CYP1B1

    Clone
    Products:
         
    OriGene clones in human, mouse for CYP1B1 (see all 6)
    OriGene ORF clones in mouse, rat for CYP1B1
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    GenScript: all cDNA clones in your preferred vector: CYP1B1 (NM_000104)
    Sino Biological Human cDNA Clone for CYP1B1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CYP1B1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CYP1B1

    Cell Line
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    eBioscience FlowRNA Probe Sets ( VA6-12618) for CYP1B1 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CP1B1_HUMAN, Q16678: Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral
    membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    nucleus2
    cytosol1
    extracellular1
    golgi apparatus1
    lysosome1
    mitochondrion1
    plasma membrane1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane TAS--

    Find genes that share ontologies with CYP1B1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CYP1B1 About   (see all 14)  
    See pathways by source

    SuperPathContained pathways About
    1Biological oxidations
    Biological oxidations0.56
    Tamoxifen metabolism0.00
    metapathway biotransformation0.42
    Estradiol metabolism0.00
    Benzo(a)pyrene metabolism0.00
    2Cytochrome P450 - arranged by substrate type
    Cytochrome P450 - arranged by substrate type0.75
    cytochrome P4500.74
    Phase 1 - Functionalization of compounds0.75
    Endogenous sterols0.00
    3Arachidonic acid metabolism
    Arachidonic acid metabolism0.40
    Synthesis of epoxy (EET) and dihydroxyeicosatrienoic acids (DHET)0.00
    Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE)0.00
    Amodiaquine Pathway, Pharmacokinetics0.00
    4Chemical carcinogenesis
    Metabolism of xenobiotics by cytochrome P4500.71
    Benzo a pyrene metabolism0.00
    Chemical carcinogenesis0.71
    5Tryptophan metabolism
    Tryptophan metabolism0.46
    Tryptophan metabolism0.46


    Find genes that share SuperPaths with CYP1B1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 GeneGo (Thomson Reuters) Pathways for CYP1B1
        Estradiol metabolism
    Retinol metabolism
    Benzo[a]pyrene metabolism

    Selected BioSystems Pathways for CYP1B1 (see all 10)
        cytochrome P450
    Tamoxifen metabolism
    Benzo(a)pyrene metabolism
    Estrogen metabolism
    melatonin degradation I


    3 Reactome Pathways for CYP1B1
        Endogenous sterols
    Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE)
    Synthesis of epoxy (EET) and dihydroxyeicosatrienoic acids (DHET)

    3 PharmGKB Pathways for CYP1B1
        Amodiaquine Pathway, Pharmacokinetics
    Estrogen Metabolism Pathway
    Taxane Pathway, Pharmacokinetics

    Selected Kegg Pathways  (Kegg details for CYP1B1) (see all 6):
        Steroid hormone biosynthesis
    Tryptophan metabolism
    Metabolism of xenobiotics by cytochrome P450
    Ovarian steroidogenesis
    Chemical carcinogenesis

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CYP1B1 (see all 6): 
              Lung Cancer in human mouse rat
              Amino Acid Metabolism I in human mouse rat
              Polycomb & Trithorax Target Genes in human mouse rat
              Drug Metabolism: Phase I Enzymes in human mouse rat
              Cellular Stress Responses in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CYP1B1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CYP1B1 (Q166783 ENSP000002606304) via UniProtKB, MINT, STRING, and/or I2D (see all 57)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SAE1Q9UBE03, ENSP000002702254I2D: score=2 STRING: ENSP00000270225
    COMTENSP000003545114STRING: ENSP00000354511
    CYP1A1ENSP000003690504STRING: ENSP00000369050
    EPHX1ENSP000002721674STRING: ENSP00000272167
    GSTA1ENSP000003356204STRING: ENSP00000335620
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001525angiogenesis IEA--
    GO:0006725cellular aromatic compound metabolic process IEA--
    GO:0006805xenobiotic metabolic process TAS--
    GO:0007601visual perception TAS9097971
    GO:0008202steroid metabolic process IDA--

    Find genes that share ontologies with CYP1B1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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      Browse compounds at ApexBio 

    Compounds for CYP1B1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    PF 4981517Selective CYP3A4 inhibitor[1390637-82-7]
    MethoxyresorufinFluorometric CYP450 substrate[5725-89-3]
    Letrozole Potent, reversible non-steroidal aromatase inhibitor [112809-51-5]
    ExemestaneSteroidal aromatase (CYP19) inhibitor[107868-30-4]
    PentoxyresorufinFluorometric cytochrome P450 substrate[87687-03-4]

    Selected HMDB Compounds for CYP1B1 (see all 51)    About this table
    CompoundSynonyms CAS #PubMed Ids
    Melatonin5-Methoxy-N-acetyltryptamine (see all 23)73-31-419919601
    10-HETE10-hydroxyeicosa-all-cis-5,8,11,14-tetraenoate (see all 2)167697-52-1--
    11,12,15-THETA11,12,15-Trihydroxyicosatrienoic acid (see all 5)----
    11,12-Epoxyeicosatrienoic acid10-(3-(2-octenyl)oxiranyl)-5,8-Decadienoic acid (see all 15)81276-02-0--
    11,14,15-THETA(5Z,8Z,12E)-11,14,15-Trihydroxyeicosa-5,8,12-trienoic acid (see all 8)----
    11H-14,15-EETA14,15-Ep-11-HETrE (see all 11)219535-29-2--
    11beta-Hydroxytestosterone11beta,17beta-dihydroxyandrost-4-en-3-one 1816-85-9--
    12,13-EpOMEVernolic acid (see all 12)----
    13-HETE13-hydroxy-5Z,8Z,11Z,14Z-eicosatetraenoate (see all 2)151910-72-4--
    14,15-Epoxy-5,8,11-eicosatrienoic acid(5Z,8Z,11Z)-14,15-Epoxyicosa-5.8.11-trienoic acid (see all 11)81276-03-1--

    Selected DrugBank Compounds for CYP1B1 (see all 30)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    MelatoninMEL (see all 4)73-31-4enzymesubstrate inhibitor19919601 15616152 19934256
    TamoxifenICI-46474 (see all 3)10540-29-1enzymesubstrate inhibitor12124303 19934256 19515014
    Dasatinib-- 302962-49-8enzymesubstrate18556438 19733976
    ErlotinibCP358774 (see all 2)183321-74-6enzymesubstrate17575239 19733976
    OxaliplatinDiaminocyclohexane Oxalatoplatinum (see all 4)61825-94-3enzymesubstrate15634647 19934256
    AmodiaquineAmodiaquin (see all 4)86-42-0enzymesubstrate19934256
    Arsenic trioxideAcide Arsenieux [French] (see all 11)1327-53-3enzymeinhibitor19934256
    Biotin(+)-cis-Hexahydro-2-oxo-1H-thieno[3,4]imidazole-4-valeric acid (see all 7)58-85-5enzymeinducer19934256
    CaffeineCafeina (see all 7)58-08-2enzymesubstrate19934256
    Clozapine-- 5786-21-0enzymeinducer19934256

    Selected Novoseek inferred chemical compound relationships for CYP1B1 gene (see all 89)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tcdd 87.3 210 9931287 (6), 9525272 (6), 19324859 (5), 11452143 (5) (see all 74)
    ethoxyresorufin 85.5 27 10862525 (1), 11714871 (1), 12818727 (1), 15486049 (1) (see all 26)
    4-methoxyestradiol 84.3 1 10403516 (1)
    4-hydroxyestradiol 83.8 15 10862525 (1), 16893557 (1), 15901486 (1), 17575138 (1) (see all 13)
    benzo(a)pyrene 79.3 94 18372000 (5), 11854143 (5), 16530937 (4), 18336843 (4) (see all 35)
    alpha-naphthoflavone 79.3 9 16893557 (1), 14962508 (1), 12624000 (1), 11858729 (1) (see all 7)
    dibenzo(a,l)pyrene 77.3 16 17623886 (4), 15566942 (2), 16162842 (2), 12230405 (1) (see all 7)
    2-hydroxyestradiol 76.7 7 16893557 (1), 15142886 (1), 18456490 (1), 10426814 (1) (see all 7)
    nmpa 71.8 1 15725615 (1)
    estrogen 71.5 130 15126349 (5), 10910054 (4), 15734954 (3), 15777990 (3) (see all 56)



    Find genes that share compounds with CYP1B1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CYP1B1 gene: 
    NM_000104.3  

    Unigene Cluster for CYP1B1:

    Cytochrome P450, family 1, subfamily B, polypeptide 1
    Hs.154654  [show with all ESTs]
    Unigene Representative Sequence: NM_000104
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000491456 ENST00000260630(uc002rqo.2) ENST00000494864 ENST00000407341
    ENST00000492443 ENST00000462864 ENST00000490576
    miRNA
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    Block miRNA regulation of human, mouse, rat CYP1B1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CYP1B1 (see all 20):
    hsa-miR-148b* hsa-miR-429 hsa-miR-513a-5p hsa-miR-373* hsa-miR-380* hsa-miR-4314 hsa-miR-3613-3p hsa-miR-200b
    SwitchGear 3'UTR luciferase reporter plasmidCYP1B1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CYP1B1
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    OriGene ORF clones in mouse, rat for CYP1B1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CYP1B1 (NM_000104)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CYP1B1
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      QuantiFast Probe-based Assays in human, mouse, rat CYP1B1
    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA6-12618) for CYP1B1 

    Additional mRNA sequence: 

    AK297039.1 AK303862.1 AK312686.1 BC012049.1 BT019979.1 BT020001.1 U03688.1 

    12 DOTS entries:

    DT.418226  DT.100821969  DT.92435805  DT.92435803  DT.102829085  DT.120991308  DT.100693309  DT.100000381 
    DT.100698856  DT.120991321  DT.92435795  DT.97778366 

    Selected AceView cDNA sequences (see all 315):

    BQ949152 AI659110 AI082041 AI283699 BE045645 BG778374 AW090484 CD676783 
    BQ029445 AW297136 AU118236 AW134926 AW338428 AV717177 BQ433021 AI570794 
    N64315 AA994810 U03688 AI612742 AI090456 NM_000104 BC012049 AA262981 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CYP1B1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATGCTTTTA
    CYP1B1 Expression
    About this image


    CYP1B1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 18) fully expand
     
     Kidney (Urinary System)    fully expand to see all 9 entries
             Metanephric Mesenchyme Cells Metanephric Mesenchyme
             Metanephros
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Mature Choroid Plexus Cells Choroid Plexus
             Cerebral Cortex
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 3 entries
             Muscle Progenitor Cells Mandibular Arch Muscles
             Extraocular Muscles
     
     Gonad
             Primordial Germ Cells Allantois
             Primordial germ cell-like cells
     
     Epithelial Cells
             Mature Choroid Plexus Cells Choroid Plexus
    CYP1B1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CYP1B1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.154654

    UniProtKB/Swiss-Prot: CP1B1_HUMAN, Q16678
    Tissue specificity: Expressed in many tissues

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CYP1B1 (see all 6): 
              Lung Cancer in human mouse rat
              Amino Acid Metabolism I in human mouse rat
              Polycomb & Trithorax Target Genes in human mouse rat
              Drug Metabolism: Phase I Enzymes in human mouse rat
              Cellular Stress Responses in human mouse rat

    Primer
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CYP1B1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cyp1b11 , 5 cytochrome P450, family 1, subfamily b, polypeptide more1, 5 81.71(n)1
    81.03(a)1
      17 (50.30 cM)5
    130781  NM_009994.11  NP_034124.11 
     797069535 
    chicken
    (Gallus gallus)
    Aves CYP1B11 cytochrome P450, family 1, subfamily B, polypeptide more 75.45(n)
    71.11(a)
      421466  XM_419515.4  XP_419515.4 
    lizard
    (Anolis carolinensis)
    Reptilia CYP1B16
    cytochrome P450, family 1, subfamily B, polypeptid...
    65(a)
    1 ↔ 1
    1(232393223-232397185)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004904771 cytochrome P450 1B1-like 63.02(n)
    61.16(a)
      100490477  XM_002933878.2  XP_002933924.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cyp1b12 cytochrome P450, family 1, subfamily B, polypeptide more 74.82(n)   373883  AF235139.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta spo6
    spok6
    spookier
    24(a)
    23(a)
    many ↔ many
    many ↔ many
    3L(5583183-5585369)
    3RHet(2127184-2158789)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons TT71 TT7 42.46(n)
    29.64(a)
      830693  NM_120881.2  NP_196416.1 
    rice
    (Oryza sativa)
    Liliopsida Os10g03201001 Os10g0320100 47.76(n)
    30.04(a)
      4348304  NM_001070873.1  NP_001064338.1 


    ENSEMBL Gene Tree for CYP1B1 (if available)
    TreeFam Gene Tree for CYP1B1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CYP1B1 gene
    CYP1A22  CYP1A12  CYP17A12  CYP21A22  
    Selected SIMAP similar genes for CYP1B1 using alignment to 12 protein entries:     CP1B1_HUMAN (see all proteins) (see all similar genes):
    DKFZp686I24235    CYP1A2    CYP1A1    CYP2U1    CYP2C9    CYP2R1
    CYP2J2    CYP2B6    CYP2A13    CYP2A7    CYP2B    CYP2E1
    CYP2G1P    CYP2B7    CYP 2C    CYP2A6    CYP2C18    CYP2C19

    Find genes that share paralogs with CYP1B1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    CP1B1_HUMAN, Q16678: Various CYP1B1 alleles are known. The sequence shown is that of allele CYP1B1*1


    Selected SNPs for CYP1B1 (see all 418)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289367011,2,,4
    CGlaucoma 3, primary congenital, A (GLC3A)4 pathogenic138169591(-) AAAGGC/TGGTGC 2 R W mis10--------
    rs561751991,2,,4
    C,FGlaucoma 3, primary congenital, A (GLC3A)4 --38169686(+) TCTCCG/AGGTTA 2 /P /L mis16Minor allele frequency- A:0.00MN WA EA NA 5744
    rs560108181,2,,4
    CGlaucoma 3, primary congenital, A (GLC3A)4 --38169827(+) AGAAGC/TGCATG 2 H R mis10--------
    rs559897601,2,,4
    C,FGlaucoma, primary open angle (POAG)4 pathogenic138169837(-) TTTATA/C/GAAGCC 2 K E mis12CSA NA 4543
    rs557715381,2,,4
    CGlaucoma 3, primary congenital, A (GLC3A)4 pathogenic138169903(-) TCGTGC/G/TGGAGG 2 G W mis11CSA 1
    rs578650601,2,,4
    C,FGlaucoma, primary open angle (POAG)4 --38173346(+) CTCTTC/TGTTGT 2 K E mis112Minor allele frequency- T:0.00MN WA EA NA EU 6469
    rs594729721,2,,4
    CGlaucoma 3, primary congenital, A (GLC3A)4 --38173439(+) CACGAC/TGGTCA 2 I V mis11Minor allele frequency- T:0.00--356
    rs92826711,2,,4
    C,FGlaucoma, primary open angle (POAG)4 pathogenic138173790(-) GGCGCT/AACGGC 2 /N /Y mis1 ese37Minor allele frequency- A:0.00MN NA 764
    rs289367001,2,,4
    CGlaucoma, primary open angle (POAG)4 pathogenic138173849(-) GATCGA/GAAACG 2 E G mis10--------
    VAR_0542534
    Glaucoma 3, primary congenital, A (GLC3A)4--see VAR_0542532 V M mis40--------

    HapMap Linkage Disequilibrium report for CYP1B1 (38294116 - 38337044 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for CYP1B1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2659660CNV Deletion23128226

    The Human Cytochrome P450 Allele Nomenclature Database: CYP1B1 
    Human Gene Mutation Database (HGMD): CYP1B1
    Locus Specific Mutation Databases (LSDB): CYP1B1

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing CYP1B1
    DNA2.0 Custom Variant and Variant Library Synthesis for CYP1B1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 601771   
    OMIM disorders: 231300  604229  
    UniProtKB/Swiss-Prot: CP1B1_HUMAN, Q16678
  • Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]: 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. Note=The disease
    is caused by mutations affecting distinct genetic loci, including the gene represented in this entry
  • Glaucoma, primary open angle (POAG) [MIM:137760]: A complex and genetically heterogeneous ocular disorder
    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. In some cases, POAG shows digenic inheritance involving
    mutations in CYP1B1 and MYOC genes. Note=Disease susceptibility is associated with variations affecting the gene
    represented in this entry. CYP1B1 mutations have been reported to pose a significant risk for early-onset POAG
    and also modify glaucoma phenotype in patients who do not carry a MYOC mutation (PubMed:15342693)
  • Glaucoma 1, open angle, A (GLC1A) [MIM:137750]: 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. Note=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)
  • Peters anomaly (PAN) [MIM:604229]: Consists of a central corneal leukoma, absence of the posterior
    corneal stroma and Descemet membrane, and a variable degree of iris and lenticular attachments to the central
    aspect of the posterior cornea. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • Selected diseases for CYP1B1 (see all 24):    
    About MalaCards
    buphthalmos    glaucoma 3a, primary open angle, congenital, juvenile, or adult onset    cyp1b1-related primary congenital glaucoma    sturge-weber syndrome
    primary congenital glaucoma    glaucoma    juvenile glaucoma    glaucoma 1, open angle, e
    glaucoma 1a, primary open angle    glaucoma, congenital    peters plus syndrome    early-onset glaucoma
    glaucoma 3, primary congenital, d    primary angle-closure glaucoma    primary open angle glaucoma    axenfeld-rieger syndrome
    open-angle glaucoma    weber syndrome    mycetoma    endometriosis

    3 diseases from the University of Copenhagen DISEASES database for CYP1B1:
    Glaucoma     Breast cancer     Axenfeld-Rieger syndrome

    Find genes that share disorders with CYP1B1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for CYP1B1 gene (see all 48)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glaucoma, congenital 93.7 126 9097971 (4), 18852424 (4), 15475877 (3), 19536304 (3) (see all 70)
    anomaly peters 72.9 8 16735991 (3), 15682044 (3), 20151268 (1), 16638984 (1)
    breast cancer 63.1 150 20093341 (6), 15734954 (6), 9823305 (5), 20037207 (5) (see all 55)
    glaucoma 61.2 46 11774072 (4), 19622003 (3), 15342693 (2), 19668563 (2) (see all 29)
    rieger syndrome 61.2 3 16735994 (2), 17106362 (1)
    primary open angle glaucoma 60.3 5 16862072 (1), 19096718 (1), 20198978 (1), 17361544 (1) (see all 5)
    glaucoma open-angle 54.4 14 16319821 (2), 19793111 (2), 17563717 (2), 15342693 (1) (see all 9)
    endometrial cancer 54.1 32 14656940 (6), 12873984 (6), 15285606 (3), 20492382 (3) (see all 11)
    cancer 48.5 52 16120791 (3), 9230218 (3), 12869499 (2), 16547151 (2) (see all 29)
    chemical carcinogenesis 48 1 12520071 (1)

    GeneTests: CYP1B1
    GeneReviews: CYP1B1
    Genetic Association Database (GAD): CYP1B1
    Human Genome Epidemiology (HuGE) Navigator: CYP1B1 (271 documents)

    Export disorders for CYP1B1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CYP1B1 gene, integrated from 10 sources (see all 819):
    (articles sorted by number of sources associating them with CYP1B1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Association of cytochrome P450 1B1 (CYP1B1) polymorphism with steroid receptor status in breast cancer. (PubMed id 9823305)1, 2, 4, 9 Bailey L.R.... Parl F.F. (Cancer Res. 1998)
    2. Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. (PubMed id 11774072)1, 2, 4, 9 Vincent A.L.... Heon E. (Am. J. Hum. Genet. 2002)
    3. CYP1B1 mutations in French patients with early-onset primary open- angle glaucoma. (PubMed id 15342693)1, 2, 4, 9 Melki R.... Garchon H.-J. (J. Med. Genet. 2004)
    4. Mutation spectrum of the CYP1B1 gene in Indian primary congenital glaucoma patients. (PubMed id 15475877)1, 2, 4, 9 Reddy A.B.M.... Chakrabarti S. (Mol. Vis. 2004)
    5. 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)1, 2, 3, 9 Sutter T.R.... Greenlee W.F. (J. Biol. Chem. 1994)
    6. Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma. (PubMed id 16862072)1, 2, 4, 9 Lopez-Garrido M.-P.... Escribano J. (Mol. Vis. 2006)
    7. Functional analysis of six different polymorphic CYP1B1 enzyme variants found in an Ethiopian population. (PubMed id 11854439)1, 2, 4, 9 Aklillu E....Ingelman-Sundberg M. (Mol. Pharmacol. 2002)
    8. Primary role of CYP1B1 in Indian juvenile-onset POAG patients. (PubMed id 16688110)1, 2, 4 Acharya M.... Ray K. (Mol. Vis. 2006)
    9. Role of CYP1B1, MYOC, OPTN, and OPTC genes in adult-onset primary open-angle glaucoma: predominance of CYP1B1 mutations in Indian patients. (PubMed id 17563717)1, 4, 9 Kumar A....Dorairaj S.K. (Mol. Vis. 2007)
    10. Association of single nucleotide polymorphisms in CYP1B1 and COMT genes with breast cancer susceptibility in Indian women. (PubMed id 20037207)1, 4, 9 Yadav S....Singh M.P. (Dis. Markers 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1545 HGNC: 2597 AceView: CYP1B1 Ensembl:ENSG00000138061 euGenes: HUgn1545
    ECgene: CYP1B1 Kegg: 1545 H-InvDB: CYP1B1

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for CYP1B1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CYP1B1 Genetics and Cytogenetics in Oncology and Haematology
    Cytochrome P450 Allele Nomenclature Committeehttp://www.cypalleles.ki.se/cyp1b1.htm
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CYP1B1[genesymbol]
    NIEHS-SNPshttp://egp.gs.washington.edu/data/cyp1b1/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CYP1B1 gene:
    Search GeneIP for patents involving CYP1B1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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     ELISAs for CYP1B1
     CLIAs for CYP1B1



     Browse ESI BIO Cell Lines and PureStem Progenitors for CYP1B1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYP1B1
     SwitchGear 3'UTR luciferase reporter plasmids for CYP1B1
     SwitchGear Promoter luciferase reporter plasmids for CYP1B1
     ThermoFisher Antibodies for CYP1B1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CYP1B1
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CYP1B1
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CYP1B1
     LSBio Antibodies in human, mouse, rat for CYP1B1
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
     Search Addgene for plasmids for CYP1B1
      Search eBioscience for proteins for CYP1B1
      Search eBioscience for elisas for CYP1B1
      eBioscience FlowRNA Probe Sets
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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