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Q16678

- CP1B1_HUMAN

UniProt

Q16678 - CP1B1_HUMAN

Protein

Cytochrome P450 1B1

Gene

CYP1B1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 167 (01 Oct 2014)
      Sequence version 2 (07 Jun 2004)
      Previous versions | rss
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    Functioni

    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, retinoid and xenobiotics. Preferentially oxidizes 17beta-estradiol to the carcinogenic 4-hydroxy derivative, and a variety of procarcinogenic compounds to their activated forms, including polycyclic aromatic hydrocarbons. Promotes angiogenesis by removing cellular oxygenation products, thereby decreasing oxidative stress, release of antiangiogenic factor THBS2, then allowing endothelial cells migration, cell adhesion and capillary morphogenesis. These changes are concommitant with the endothelial nitric oxide synthase activity and nitric oxide synthesis. Plays an important role in the regulation of perivascular cell proliferation, migration, and survival through modulation of the intracellular oxidative state and NF-kappa-B expression and/or activity, during angiogenesis. Contributes to oxidative homeostasis and ultrastructural organization and function of trabecular meshwork tissue through modulation of POSTN expression.4 Publications

    Catalytic activityi

    RH + reduced flavoprotein + O2 = ROH + oxidized flavoprotein + H2O.2 Publications

    Cofactori

    Heme group.1 Publication

    Enzyme regulationi

    Enzyme activity is increased by liposomes containing anionic phospholipids, phosphatidic acid and cardiolipin. Inhibited by naringenin with an IC50 of 5 µM.2 Publications

    Kineticsi

    kcat is 0.15 min(-1) for retinol, 0.77 min(-1) for retinal, 2.86 min(-1) for 7,12-dimethyltetraphene, 0.48 min(-1) for arachidonic acid.

    1. KM=6.0 µM for 17-beta-estradiol2 Publications
    2. KM=17.0 µM for testosterone2 Publications
    3. KM=24.0 µM for progesterone2 Publications
    4. KM=18.5 µM for retinol2 Publications
    5. KM=8.5 µM for retinal2 Publications
    6. KM=29.8 µM for arachidonic acid2 Publications
    7. KM=212.8 µM for 7,12-dimethyltetraphene2 Publications

    Vmax=14.95 nmol/min/mg enzyme for 17-beta-estradiol 4-hydroxylation2 Publications

    Vmax=6.9 nmol/min/mg enzyme for 17-beta-estradiol 2-hydroxylation2 Publications

    Vmax=36.16 nmol/min/mg enzyme for testosterone 6-beta-hydroxylation2 Publications

    Vmax=9.86 nmol/min/mg enzyme for progesterone 6-beta-hydroxylation2 Publications

    Vmax=37.80 nmol/min/mg enzyme for progesterone 16-alpha-hydroxylation2 Publications

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sitei395 – 3951Major determinant of CYP1B1 17beta-estradiol hydroxylation regiospecificity
    Metal bindingi470 – 4701Iron (heme axial ligand)

    GO - Molecular functioni

    1. aromatase activity Source: UniProtKB-EC
    2. heme binding Source: UniProtKB
    3. iron ion binding Source: InterPro
    4. monooxygenase activity Source: UniProtKB
    5. 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 Source: MGI
    6. oxygen binding Source: UniProtKB

    GO - Biological processi

    1. angiogenesis Source: Ensembl
    2. arachidonic acid metabolic process Source: UniProtKB
    3. blood vessel morphogenesis Source: UniProtKB
    4. cell adhesion Source: UniProtKB
    5. cellular aromatic compound metabolic process Source: Ensembl
    6. cellular response to hydrogen peroxide Source: UniProtKB
    7. cellular response to organic cyclic compound Source: MGI
    8. collagen fibril organization Source: UniProtKB
    9. endothelial cell-cell adhesion Source: Ensembl
    10. endothelial cell migration Source: UniProtKB
    11. epoxygenase P450 pathway Source: Reactome
    12. estrogen metabolic process Source: UniProtKB
    13. intrinsic apoptotic signaling pathway in response to oxidative stress Source: UniProtKB
    14. membrane lipid catabolic process Source: UniProtKB
    15. negative regulation of cell adhesion mediated by integrin Source: UniProtKB
    16. negative regulation of cell migration Source: UniProtKB
    17. negative regulation of cell proliferation Source: UniProtKB
    18. negative regulation of NF-kappaB transcription factor activity Source: UniProtKB
    19. nitric oxide biosynthetic process Source: UniProtKB
    20. omega-hydroxylase P450 pathway Source: Reactome
    21. oxidation-reduction process Source: UniProtKB
    22. positive regulation of angiogenesis Source: UniProtKB
    23. positive regulation of apoptotic process Source: UniProtKB
    24. positive regulation of gene expression involved in extracellular matrix organization Source: UniProtKB
    25. positive regulation of JAK-STAT cascade Source: UniProtKB
    26. positive regulation vascular endothelial growth factor production Source: UniProtKB
    27. regulation of reactive oxygen species metabolic process Source: UniProtKB
    28. response to toxic substance Source: Ensembl
    29. retinal blood vessel morphogenesis Source: UniProtKB
    30. retinal metabolic process Source: UniProtKB
    31. retinol metabolic process Source: UniProtKB
    32. small molecule metabolic process Source: Reactome
    33. steroid metabolic process Source: UniProtKB
    34. sterol metabolic process Source: Reactome
    35. toxin metabolic process Source: Ensembl
    36. trabecular meshwork development Source: UniProtKB
    37. visual perception Source: UniProtKB
    38. xenobiotic metabolic process Source: UniProtKB

    Keywords - Molecular functioni

    Monooxygenase, Oxidoreductase

    Keywords - Ligandi

    Heme, Iron, Metal-binding

    Enzyme and pathway databases

    BioCyciMetaCyc:HS06443-MONOMER.
    ReactomeiREACT_13812. Endogenous sterols.
    REACT_150134. Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE).
    REACT_150417. Synthesis of epoxy (EET) and dihydroxyeicosatrienoic acids (DHET).
    SABIO-RKQ16678.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Cytochrome P450 1B1 (EC:1.14.14.1)
    Alternative name(s):
    CYPIB1
    Gene namesi
    Name:CYP1B1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:2597. CYP1B1.

    Subcellular locationi

    GO - Cellular componenti

    1. endoplasmic reticulum membrane Source: Reactome
    2. mitochondrion Source: UniProtKB

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane, Microsome, Mitochondrion

    Pathology & Biotechi

    Involvement in diseasei

    Peters anomaly (PETAN) [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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.16 Publications
    Note: The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti61 – 611G → E in GLC3A and POAG; allele CYP1B1*12; reduces enzymatic activity. 7 Publications
    Corresponds to variant rs28936700 [ dbSNP | Ensembl ].
    VAR_001244
    Natural varianti77 – 771L → P in GLC3A. 2 Publications
    VAR_054229
    Natural varianti115 – 1151A → P in GLC3A. 1 Publication
    VAR_054230
    Natural varianti132 – 1321M → R in GLC3A. 1 Publication
    VAR_054231
    Natural varianti144 – 1441Q → P in GLC3A. 1 Publication
    VAR_054233
    Natural varianti144 – 1441Q → R in GLC3A. 1 Publication
    VAR_054234
    Natural varianti192 – 1921D → V in GLC3A. 1 Publication
    VAR_054238
    Natural varianti193 – 1931P → L in GLC3A. 2 Publications
    VAR_054239
    Natural varianti198 – 1981V → I in GLC3A. 1 Publication
    Corresponds to variant rs59472972 [ dbSNP | Ensembl ].
    VAR_054240
    Natural varianti203 – 2031N → S in GLC3A; reduces enzymatic activity.
    VAR_054241
    Natural varianti215 – 2151S → I in GLC3A. 1 Publication
    VAR_054242
    Natural varianti229 – 2291E → K in GLC3A and POAG; juvenile-onset; hypomorphic allele; reduces the abundance of the enzyme. 7 Publications
    Corresponds to variant rs57865060 [ dbSNP | Ensembl ].
    VAR_054243
    Natural varianti232 – 2321G → R in GLC3A and POAG; adult-onset. 2 Publications
    VAR_054244
    Natural varianti239 – 2391S → R in GLC3A. 1 Publication
    VAR_054245
    Natural varianti269 – 2713Missing in GLC3A and POAG.
    VAR_054246
    Natural varianti320 – 3201V → L in GLC3A. 1 Publication
    VAR_054247
    Natural varianti330 – 3301A → F in GLC3A; requires 2 nucleotide substitutions; unknown pathological significance. 1 Publication
    VAR_054248
    Natural varianti343 – 3431Missing in GLC3A; reduces enzymatic activity and also the abundance of the enzyme. 1 Publication
    VAR_054250
    Natural varianti355 – 3584Missing in GLC3A.
    VAR_054252
    Natural varianti364 – 3641V → M in GLC3A. 3 Publications
    VAR_054253
    Natural varianti365 – 3651G → W in GLC3A; allele CYP1B1*18. 1 Publication
    Corresponds to variant rs55771538 [ dbSNP | Ensembl ].
    VAR_001245
    Natural varianti368 – 3681R → H in GLC3A and GLC1A; acts as GLC1A disease modifier in patients also carrying Val-399 mutation in MYOC. 8 Publications
    Corresponds to variant rs28936414 [ dbSNP | Ensembl ].
    VAR_016034
    Natural varianti374 – 3741D → N in GLC3A. 2 Publications
    Corresponds to variant rs28936413 [ dbSNP | Ensembl ].
    VAR_001246
    Natural varianti387 – 3871E → K in GLC3A and POAG; allele CYP1B1*20. 6 Publications
    Corresponds to variant rs55989760 [ dbSNP | Ensembl ].
    VAR_008352
    Natural varianti388 – 3881A → T in GLC3A. 1 Publication
    VAR_054254
    Natural varianti390 – 3901R → C in GLC3A. 2 Publications
    VAR_054255
    Natural varianti390 – 3901R → H in GLC3A; allele CYP1B1*21. 3 Publications
    Corresponds to variant rs56010818 [ dbSNP | Ensembl ].
    VAR_008353
    Natural varianti390 – 3901R → S in GLC3A. 2 Publications
    VAR_054256
    Natural varianti399 – 3991I → S in GLC3A. 1 Publication
    VAR_054257
    Natural varianti423 – 4231N → Y in GLC3A and POAG; juvenile-onset. 2 Publications
    VAR_054260
    Natural varianti437 – 4371P → L in GLC3A; allele CYP1B1*23. 3 Publications
    Corresponds to variant rs56175199 [ dbSNP | Ensembl ].
    VAR_008354
    Natural varianti443 – 4431A → G in GLC3A and POAG; allele CYP1B1*7; unknown pathological significance. 4 Publications
    Corresponds to variant rs4986888 [ dbSNP | Ensembl ].
    VAR_018774
    Natural varianti444 – 4441R → Q in GLC3A. 1 Publication
    VAR_054261
    Natural varianti445 – 4451F → C in GLC3A. 1 Publication
    VAR_054262
    Natural varianti466 – 4661G → D in GLC3A. 1 Publication
    VAR_054263
    Natural varianti469 – 4691R → W in GLC3A; allele CYP1B1*25. 4 Publications
    Corresponds to variant rs28936701 [ dbSNP | Ensembl ].
    VAR_001247
    Natural varianti499 – 4991E → G in GLC3A. 1 Publication
    VAR_054264
    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.4 Publications
    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).1 Publication
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti28 – 281S → W in POAG. 1 Publication
    VAR_054227
    Natural varianti57 – 571W → C in POAG; juvenile onset; allele CYP1B1*11. 2 Publications
    VAR_008350
    Natural varianti61 – 611G → E in GLC3A and POAG; allele CYP1B1*12; reduces enzymatic activity. 7 Publications
    Corresponds to variant rs28936700 [ dbSNP | Ensembl ].
    VAR_001244
    Natural varianti81 – 811Y → N in POAG; adult-onset; hypomorphic allele; reduces the abundance of the enzyme. 3 Publications
    Corresponds to variant rs9282671 [ dbSNP | Ensembl ].
    VAR_028736
    Natural varianti145 – 1451R → W in POAG. 1 Publication
    VAR_054235
    Natural varianti229 – 2291E → K in GLC3A and POAG; juvenile-onset; hypomorphic allele; reduces the abundance of the enzyme. 7 Publications
    Corresponds to variant rs57865060 [ dbSNP | Ensembl ].
    VAR_054243
    Natural varianti232 – 2321G → R in GLC3A and POAG; adult-onset. 2 Publications
    VAR_054244
    Natural varianti269 – 2713Missing in GLC3A and POAG.
    VAR_054246
    Natural varianti345 – 3451L → F in POAG. 1 Publication
    VAR_054251
    Natural varianti387 – 3871E → K in GLC3A and POAG; allele CYP1B1*20. 6 Publications
    Corresponds to variant rs55989760 [ dbSNP | Ensembl ].
    VAR_008352
    Natural varianti409 – 4091V → F in POAG. 1 Publication
    VAR_054258
    Natural varianti423 – 4231N → Y in GLC3A and POAG; juvenile-onset. 2 Publications
    VAR_054260
    Natural varianti443 – 4431A → G in GLC3A and POAG; allele CYP1B1*7; unknown pathological significance. 4 Publications
    Corresponds to variant rs4986888 [ dbSNP | Ensembl ].
    VAR_018774
    Natural varianti515 – 5151S → L in POAG; unknown pathological significance. 1 Publication
    VAR_054265
    Natural varianti523 – 5231R → T in POAG; juvenile-onset. 1 Publication
    VAR_054267
    Natural varianti530 – 5301D → G in POAG. 1 Publication
    VAR_054268
    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.1 Publication
    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).1 Publication
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti368 – 3681R → H in GLC3A and GLC1A; acts as GLC1A disease modifier in patients also carrying Val-399 mutation in MYOC. 8 Publications
    Corresponds to variant rs28936414 [ dbSNP | Ensembl ].
    VAR_016034

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi395 – 3951V → L: Invertes the 4OH E2:2OH E2 hydroxylation preference from 5.1 to 0.45. 1 Publication

    Keywords - Diseasei

    Disease mutation, Glaucoma, Peters anomaly

    Organism-specific databases

    MIMi137750. phenotype.
    137760. phenotype.
    231300. phenotype.
    604229. phenotype.
    Orphaneti98976. Congenital glaucoma.
    98977. Juvenile glaucoma.
    708. Peters anomaly.
    353225. Primary adult open-angle glaucoma.
    PharmGKBiPA27094.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 543543Cytochrome P450 1B1PRO_0000051660Add
    BLAST

    Proteomic databases

    MaxQBiQ16678.
    PaxDbiQ16678.
    PRIDEiQ16678.

    PTM databases

    PhosphoSiteiQ16678.

    Expressioni

    Tissue specificityi

    Expressed in many tissues.1 Publication

    Inductioni

    By polycyclic aromatic hydrocarbons (PAH) and 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD).1 Publication

    Gene expression databases

    ArrayExpressiQ16678.
    BgeeiQ16678.
    CleanExiHS_CYP1B1.
    GenevestigatoriQ16678.

    Organism-specific databases

    HPAiCAB011705.
    HPA026863.

    Interactioni

    Protein-protein interaction databases

    BioGridi107925. 2 interactions.
    IntActiQ16678. 1 interaction.
    STRINGi9606.ENSP00000260630.

    Structurei

    Secondary structure

    1
    543
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi70 – 8112
    Beta strandi83 – 897
    Beta strandi92 – 976
    Helixi100 – 1078
    Turni108 – 1136
    Helixi121 – 1255
    Helixi126 – 1294
    Beta strandi132 – 1354
    Helixi139 – 15416
    Helixi162 – 18322
    Helixi184 – 1885
    Helixi194 – 20916
    Helixi219 – 2246
    Helixi228 – 2358
    Turni241 – 2433
    Helixi245 – 2495
    Helixi253 – 28230
    Helixi292 – 30413
    Helixi317 – 3193
    Helixi320 – 34829
    Helixi350 – 36314
    Helixi372 – 3776
    Helixi379 – 39214
    Beta strandi407 – 4093
    Beta strandi412 – 4143
    Beta strandi419 – 4246
    Helixi425 – 4284
    Turni431 – 4333
    Beta strandi435 – 4395
    Helixi442 – 4454
    Helixi454 – 4574
    Helixi473 – 49018
    Beta strandi491 – 4955
    Beta strandi505 – 5139
    Beta strandi518 – 5247

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    3PM0X-ray2.70A51-543[»]
    ProteinModelPortaliQ16678.
    SMRiQ16678. Positions 68-530.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ16678.

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the cytochrome P450 family.Curated

    Phylogenomic databases

    eggNOGiCOG2124.
    HOGENOMiHOG000036991.
    HOVERGENiHBG106944.
    InParanoidiQ16678.
    KOiK07410.
    OrthoDBiEOG7RBZ85.
    PhylomeDBiQ16678.
    TreeFamiTF105095.

    Family and domain databases

    Gene3Di1.10.630.10. 1 hit.
    InterProiIPR001128. Cyt_P450.
    IPR017972. Cyt_P450_CS.
    IPR002401. Cyt_P450_E_grp-I.
    [Graphical view]
    PfamiPF00067. p450. 1 hit.
    [Graphical view]
    PRINTSiPR00463. EP450I.
    PR00385. P450.
    SUPFAMiSSF48264. SSF48264. 1 hit.
    PROSITEiPS00086. CYTOCHROME_P450. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q16678-1 [UniParc]FASTAAdd to Basket

    « Hide

    MGTSLSPNDP WPLNPLSIQQ TTLLLLLSVL ATVHVGQRLL RQRRRQLRSA    50
    PPGPFAWPLI GNAAAVGQAA HLSFARLARR YGDVFQIRLG SCPIVVLNGE 100
    RAIHQALVQQ GSAFADRPAF ASFRVVSGGR SMAFGHYSEH WKVQRRAAHS 150
    MMRNFFTRQP RSRQVLEGHV LSEARELVAL LVRGSADGAF LDPRPLTVVA 200
    VANVMSAVCF GCRYSHDDPE FRELLSHNEE FGRTVGAGSL VDVMPWLQYF 250
    PNPVRTVFRE FEQLNRNFSN FILDKFLRHC ESLRPGAAPR DMMDAFILSA 300
    EKKAAGDSHG GGARLDLENV PATITDIFGA SQDTLSTALQ WLLLLFTRYP 350
    DVQTRVQAEL DQVVGRDRLP CMGDQPNLPY VLAFLYEAMR FSSFVPVTIP 400
    HATTANTSVL GYHIPKDTVV FVNQWSVNHD PLKWPNPENF DPARFLDKDG 450
    LINKDLTSRV MIFSVGKRRC IGEELSKMQL FLFISILAHQ CDFRANPNEP 500
    AKMNFSYGLT IKPKSFKVNV TLRESMELLD SAVQNLQAKE TCQ 543
    Length:543
    Mass (Da):60,846
    Last modified:June 7, 2004 - v2
    Checksum:i46B6DA7368F63EA2
    GO

    Polymorphismi

    Various CYP1B1 alleles are known. The sequence shown is that of allele CYP1B1*1.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti28 – 281S → W in POAG. 1 Publication
    VAR_054227
    Natural varianti48 – 481R → G in allele CYP1B1*2, allele CYP1B1*5, allele CYP1B1*6 and allele CYP1B1*7. 12 Publications
    Corresponds to variant rs10012 [ dbSNP | Ensembl ].
    VAR_011752
    Natural varianti52 – 521P → L.1 Publication
    VAR_054228
    Natural varianti57 – 571W → C in POAG; juvenile onset; allele CYP1B1*11. 2 Publications
    VAR_008350
    Natural varianti61 – 611G → E in GLC3A and POAG; allele CYP1B1*12; reduces enzymatic activity. 7 Publications
    Corresponds to variant rs28936700 [ dbSNP | Ensembl ].
    VAR_001244
    Natural varianti68 – 681Q → R.
    Corresponds to variant rs9282670 [ dbSNP | Ensembl ].
    VAR_028735
    Natural varianti77 – 771L → P in GLC3A. 2 Publications
    VAR_054229
    Natural varianti81 – 811Y → N in POAG; adult-onset; hypomorphic allele; reduces the abundance of the enzyme. 3 Publications
    Corresponds to variant rs9282671 [ dbSNP | Ensembl ].
    VAR_028736
    Natural varianti115 – 1151A → P in GLC3A. 1 Publication
    VAR_054230
    Natural varianti119 – 1191A → S in allele CYP1B1*2, allele CYP1B1*6 and allele CYP1B1*7; significantly associated with breast or lung cancer; no significant change in 17beta-estradiol 2- and 4-hydroxylation activities and 17beta-estradiol affinity; 1.5-fold reduction in testosterone affinity but nearly no change in testosterone 6beta-hydroxylation activity; 2-fold increase in progesterone 6beta- and 16alpha-hydroxylation activities and 5-fold reduction in progesterone affinity. 10 Publications
    Corresponds to variant rs1056827 [ dbSNP | Ensembl ].
    VAR_011753
    Natural varianti132 – 1321M → R in GLC3A. 1 Publication
    VAR_054231
    Natural varianti144 – 1441Q → H.1 Publication
    VAR_054232
    Natural varianti144 – 1441Q → P in GLC3A. 1 Publication
    VAR_054233
    Natural varianti144 – 1441Q → R in GLC3A. 1 Publication
    VAR_054234
    Natural varianti145 – 1451R → W in POAG. 1 Publication
    VAR_054235
    Natural varianti184 – 1841G → S.1 Publication
    VAR_054236
    Natural varianti189 – 1891A → P Associated with ocular hypertension susceptibility. 1 Publication
    VAR_054237
    Natural varianti192 – 1921D → V in GLC3A. 1 Publication
    VAR_054238
    Natural varianti193 – 1931P → L in GLC3A. 2 Publications
    VAR_054239
    Natural varianti198 – 1981V → I in GLC3A. 1 Publication
    Corresponds to variant rs59472972 [ dbSNP | Ensembl ].
    VAR_054240
    Natural varianti203 – 2031N → S in GLC3A; reduces enzymatic activity.
    VAR_054241
    Natural varianti206 – 2061S → N.1 Publication
    Corresponds to variant rs9341248 [ dbSNP | Ensembl ].
    VAR_018869
    Natural varianti215 – 2151S → I in GLC3A. 1 Publication
    VAR_054242
    Natural varianti229 – 2291E → K in GLC3A and POAG; juvenile-onset; hypomorphic allele; reduces the abundance of the enzyme. 7 Publications
    Corresponds to variant rs57865060 [ dbSNP | Ensembl ].
    VAR_054243
    Natural varianti232 – 2321G → R in GLC3A and POAG; adult-onset. 2 Publications
    VAR_054244
    Natural varianti239 – 2391S → R in GLC3A. 1 Publication
    VAR_054245
    Natural varianti266 – 2661R → L.1 Publication
    Corresponds to variant rs9341250 [ dbSNP | Ensembl ].
    VAR_018870
    Natural varianti269 – 2713Missing in GLC3A and POAG.
    VAR_054246
    Natural varianti320 – 3201V → L in GLC3A. 1 Publication
    VAR_054247
    Natural varianti330 – 3301A → F in GLC3A; requires 2 nucleotide substitutions; unknown pathological significance. 1 Publication
    VAR_054248
    Natural varianti330 – 3301A → S Associated with ocular hypertension susceptibility. 1 Publication
    VAR_054249
    Natural varianti343 – 3431Missing in GLC3A; reduces enzymatic activity and also the abundance of the enzyme. 1 Publication
    VAR_054250
    Natural varianti345 – 3451L → F in POAG. 1 Publication
    VAR_054251
    Natural varianti355 – 3584Missing in GLC3A.
    VAR_054252
    Natural varianti364 – 3641V → M in GLC3A. 3 Publications
    VAR_054253
    Natural varianti365 – 3651G → W in GLC3A; allele CYP1B1*18. 1 Publication
    Corresponds to variant rs55771538 [ dbSNP | Ensembl ].
    VAR_001245
    Natural varianti368 – 3681R → H in GLC3A and GLC1A; acts as GLC1A disease modifier in patients also carrying Val-399 mutation in MYOC. 8 Publications
    Corresponds to variant rs28936414 [ dbSNP | Ensembl ].
    VAR_016034
    Natural varianti374 – 3741D → N in GLC3A. 2 Publications
    Corresponds to variant rs28936413 [ dbSNP | Ensembl ].
    VAR_001246
    Natural varianti379 – 3791P → L in allele CYP1B1*19. 1 Publication
    Corresponds to variant rs56305281 [ dbSNP | Ensembl ].
    VAR_008351
    Natural varianti387 – 3871E → K in GLC3A and POAG; allele CYP1B1*20. 6 Publications
    Corresponds to variant rs55989760 [ dbSNP | Ensembl ].
    VAR_008352
    Natural varianti388 – 3881A → T in GLC3A. 1 Publication
    VAR_054254
    Natural varianti390 – 3901R → C in GLC3A. 2 Publications
    VAR_054255
    Natural varianti390 – 3901R → H in GLC3A; allele CYP1B1*21. 3 Publications
    Corresponds to variant rs56010818 [ dbSNP | Ensembl ].
    VAR_008353
    Natural varianti390 – 3901R → S in GLC3A. 2 Publications
    VAR_054256
    Natural varianti399 – 3991I → S in GLC3A. 1 Publication
    VAR_054257
    Natural varianti409 – 4091V → F in POAG. 1 Publication
    VAR_054258
    Natural varianti422 – 4221V → G.1 Publication
    VAR_054259
    Natural varianti423 – 4231N → Y in GLC3A and POAG; juvenile-onset. 2 Publications
    VAR_054260
    Natural varianti432 – 4321L → V in allele CYP1B1*3, allele CYP1B1*5, allele CYP1B1*6 and allele CYP1B1*7; 1.6-fold increase in 17beta-estradiol 4-hydroxylation activity but no change in 17beta-estradiol 2-hydroxylation activity; 2-fold reduction in testosterone 6beta-hydroxylation activity and 3-fold reduction in testosterone affinity; 6-fold and 4-fold increase in progesterone 6beta- and 16alpha-hydroxylation activity, respectively and 7-fold reduction in progesterone affinity. 15 Publications
    Corresponds to variant rs1056836 [ dbSNP | Ensembl ].
    VAR_001248
    Natural varianti437 – 4371P → L in GLC3A; allele CYP1B1*23. 3 Publications
    Corresponds to variant rs56175199 [ dbSNP | Ensembl ].
    VAR_008354
    Natural varianti441 – 4411D → H.
    Corresponds to variant rs4986887 [ dbSNP | Ensembl ].
    VAR_028737
    Natural varianti443 – 4431A → G in GLC3A and POAG; allele CYP1B1*7; unknown pathological significance. 4 Publications
    Corresponds to variant rs4986888 [ dbSNP | Ensembl ].
    VAR_018774
    Natural varianti444 – 4441R → Q in GLC3A. 1 Publication
    VAR_054261
    Natural varianti445 – 4451F → C in GLC3A. 1 Publication
    VAR_054262
    Natural varianti449 – 4491D → E.
    Corresponds to variant rs1056837 [ dbSNP | Ensembl ].
    VAR_028738
    Natural varianti453 – 4531N → S in allele CYP1B1*4. 11 Publications
    Corresponds to variant rs1800440 [ dbSNP | Ensembl ].
    VAR_008355
    Natural varianti466 – 4661G → D in GLC3A. 1 Publication
    VAR_054263
    Natural varianti469 – 4691R → W in GLC3A; allele CYP1B1*25. 4 Publications
    Corresponds to variant rs28936701 [ dbSNP | Ensembl ].
    VAR_001247
    Natural varianti499 – 4991E → G in GLC3A. 1 Publication
    VAR_054264
    Natural varianti515 – 5151S → L in POAG; unknown pathological significance. 1 Publication
    VAR_054265
    Natural varianti518 – 5181V → A.1 Publication
    VAR_054266
    Natural varianti523 – 5231R → T in POAG; juvenile-onset. 1 Publication
    VAR_054267
    Natural varianti530 – 5301D → G in POAG. 1 Publication
    VAR_054268

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U03688 mRNA. Translation: AAA19567.1.
    U56438 Genomic DNA. Translation: AAC50809.1.
    AF450132, AF450131 Genomic DNA. Translation: AAM50512.1.
    BT019979 mRNA. Translation: AAV38782.1.
    AY393998 Genomic DNA. Translation: AAQ87875.1.
    BC012049 mRNA. Translation: AAH12049.1.
    AF171066 Genomic DNA. Translation: AAG43404.1.
    CCDSiCCDS1793.1.
    PIRiA54116.
    RefSeqiNP_000095.2. NM_000104.3.
    UniGeneiHs.154654.

    Genome annotation databases

    EnsembliENST00000260630; ENSP00000260630; ENSG00000138061.
    ENST00000407341; ENSP00000384972; ENSG00000138061.
    GeneIDi1545.
    KEGGihsa:1545.
    UCSCiuc002rqo.2. human.

    Polymorphism databases

    DMDMi48429256.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    Cytochrome P450 Allele Nomenclature Committee

    CYP1B1 alleles

    NIEHS-SNPs

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U03688 mRNA. Translation: AAA19567.1 .
    U56438 Genomic DNA. Translation: AAC50809.1 .
    AF450132 , AF450131 Genomic DNA. Translation: AAM50512.1 .
    BT019979 mRNA. Translation: AAV38782.1 .
    AY393998 Genomic DNA. Translation: AAQ87875.1 .
    BC012049 mRNA. Translation: AAH12049.1 .
    AF171066 Genomic DNA. Translation: AAG43404.1 .
    CCDSi CCDS1793.1.
    PIRi A54116.
    RefSeqi NP_000095.2. NM_000104.3.
    UniGenei Hs.154654.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    3PM0 X-ray 2.70 A 51-543 [» ]
    ProteinModelPortali Q16678.
    SMRi Q16678. Positions 68-530.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 107925. 2 interactions.
    IntActi Q16678. 1 interaction.
    STRINGi 9606.ENSP00000260630.

    Chemistry

    BindingDBi Q16678.
    ChEMBLi CHEMBL4878.
    DrugBanki DB00655. Estrone.

    PTM databases

    PhosphoSitei Q16678.

    Polymorphism databases

    DMDMi 48429256.

    Proteomic databases

    MaxQBi Q16678.
    PaxDbi Q16678.
    PRIDEi Q16678.

    Protocols and materials databases

    DNASUi 1545.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000260630 ; ENSP00000260630 ; ENSG00000138061 .
    ENST00000407341 ; ENSP00000384972 ; ENSG00000138061 .
    GeneIDi 1545.
    KEGGi hsa:1545.
    UCSCi uc002rqo.2. human.

    Organism-specific databases

    CTDi 1545.
    GeneCardsi GC02M038206.
    GeneReviewsi CYP1B1.
    H-InvDB HIX0001979.
    HGNCi HGNC:2597. CYP1B1.
    HPAi CAB011705.
    HPA026863.
    MIMi 137750. phenotype.
    137760. phenotype.
    231300. phenotype.
    601771. gene.
    604229. phenotype.
    neXtProti NX_Q16678.
    Orphaneti 98976. Congenital glaucoma.
    98977. Juvenile glaucoma.
    708. Peters anomaly.
    353225. Primary adult open-angle glaucoma.
    PharmGKBi PA27094.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG2124.
    HOGENOMi HOG000036991.
    HOVERGENi HBG106944.
    InParanoidi Q16678.
    KOi K07410.
    OrthoDBi EOG7RBZ85.
    PhylomeDBi Q16678.
    TreeFami TF105095.

    Enzyme and pathway databases

    BioCyci MetaCyc:HS06443-MONOMER.
    Reactomei REACT_13812. Endogenous sterols.
    REACT_150134. Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE).
    REACT_150417. Synthesis of epoxy (EET) and dihydroxyeicosatrienoic acids (DHET).
    SABIO-RK Q16678.

    Miscellaneous databases

    EvolutionaryTracei Q16678.
    GeneWikii CYP1B1.
    GenomeRNAii 1545.
    NextBioi 6395.
    PROi Q16678.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q16678.
    Bgeei Q16678.
    CleanExi HS_CYP1B1.
    Genevestigatori Q16678.

    Family and domain databases

    Gene3Di 1.10.630.10. 1 hit.
    InterProi IPR001128. Cyt_P450.
    IPR017972. Cyt_P450_CS.
    IPR002401. Cyt_P450_E_grp-I.
    [Graphical view ]
    Pfami PF00067. p450. 1 hit.
    [Graphical view ]
    PRINTSi PR00463. EP450I.
    PR00385. P450.
    SUPFAMi SSF48264. SSF48264. 1 hit.
    PROSITEi PS00086. CYTOCHROME_P450. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Complete cDNA sequence of a human dioxin-inducible mRNA identifies a new gene subfamily of cytochrome P450 that maps to chromosome 2."
      Sutter T.R., Tang Y.M., Hayes C.L., Wo Y.-Y.P., Jabs E.W., Li X., Yin H., Cody C.W., Greenlee W.F.
      J. Biol. Chem. 269:13092-13099(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, INDUCTION.
    2. "Isolation and characterization of the human cytochrome P450 CYP1B1 gene."
      Tang Y.M., Wo Y.-Y.P., Stewart J., Hawkins A.L., Griffin C.A., Sutter T.R., Greenlee W.F.
      J. Biol. Chem. 271:28324-28330(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    3. "Physical/genetic map of the 2p22-2p21 region on chromosome 2."
      Gorry M.C., Zhang Y., Marks J.J., Suppe B., Hart P.S., Cortelli J.R., Pallos D., Hart T.C.
      Submitted (NOV-2001) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    4. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
      Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
      Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT SER-453.
    5. NIEHS SNPs program
      Submitted (SEP-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS GLY-48; SER-119; ASN-206; LEU-266; VAL-432 AND SER-453.
    6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Lung.
    7. Guillemette C.
      Submitted (JUL-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-112, VARIANT GLY-48.
    8. "Catalytic properties of polymorphic human cytochrome P450 1B1 variants."
      Shimada T., Watanabe J., Kawajiri K., Sutter T.R., Guengerich F.P., Gillam E.M.J., Inoue K.
      Carcinogenesis 20:1607-1613(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, CATALYTIC ACTIVITY, BIOPHYSICOCHEMICAL PROPERTIES, CHARACTERIZATION OF VARIANTS SER-119 AND VAL-432.
    9. Cited for: INVOLVEMENT IN PETAN.
    10. "Metabolism of retinoids and arachidonic acid by human and mouse cytochrome P450 1b1."
      Choudhary D., Jansson I., Stoilov I., Sarfarazi M., Schenkman J.B.
      Drug Metab. Dispos. 32:840-847(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, BIOPHYSICOCHEMICAL PROPERTIES.
    11. "Increase of human CYP1B1 activities by acidic phospholipids and kinetic deuterium isotope effects on CYP1B1 substrate oxidation."
      Jang H.H., Kim S.Y., Kang J.Y., Park S.H., Ryu S.H., Ahn T., Yun C.H.
      J. Biochem. 152:433-442(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: CATALYTIC ACTIVITY, ENZYME REGULATION, FUNCTION.
    12. "Specificity determinants of CYP1B1 estradiol hydroxylation."
      Nishida C.R., Everett S., Ortiz de Montellano P.R.
      Mol. Pharmacol. 84:451-458(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: MUTAGENESIS OF VAL-395, FUNCTION IN ESTROGEN METABOLISM.
    13. "The citrus flavanone naringenin suppresses CYP1B1 transactivation through antagonising xenobiotic-responsive element binding."
      Poon C.H., Wong T.Y., Wang Y., Tsuchiya Y., Nakajima M., Yokoi T., Leung L.K.
      Br. J. Nutr. 109:1598-1605(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: ENZYME REGULATION.
    14. "Structural characterization of the complex between alpha-naphthoflavone and human cytochrome P450 1B1."
      Wang A., Savas U., Stout C.D., Johnson E.F.
      J. Biol. Chem. 286:5736-5743(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (2.7 ANGSTROMS) OF 51-543 IN COMPLEX WITH HEME AND THE INHIBITOR ALPHA-NAPHTOFLAVONE, COFACTOR.
    15. "Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia."
      Bejjani B.A., Lewis R.A., Tomey K.F., Anderson K.L., Dueker D.K., Jabak M., Astle W.F., Otterud B., Leppert M., Lupski J.R.
      Am. J. Hum. Genet. 62:325-333(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS GLC3A GLU-61; ASN-374 AND TRP-469.
    16. "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."
      Stoilov I., Akarsu A.N., Alozie I., Child A., Barsoum-Homsy M., Turacli M.E., Or M., Lewis R.A., Ozdemir N., Brice G., Aktan S.G., Chevrette L., Coca-Prados M., Sarfarazi M.
      Am. J. Hum. Genet. 62:573-584(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT GLC3A TRP-365, VARIANTS CYS-57; GLU-61; TRP-365; LEU-379; LYS-387; HIS-390; VAL-432; LEU-437 AND TRP-469.
    17. "Association of cytochrome P450 1B1 (CYP1B1) polymorphism with steroid receptor status in breast cancer."
      Bailey L.R., Roodi N., Dupont W.D., Parl F.F.
      Cancer Res. 58:5038-5041(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS VAL-432 AND SER-453.
    18. Erratum
      Bailey L.R., Roodi N., Dupont W.D., Parl F.F.
      Cancer Res. 59:1388-1388(1999)
    19. "Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma."
      Plasilova M., Stoilov I., Sarfarazi M., Kadasi L., Ferakova E., Ferak V.
      J. Med. Genet. 36:290-294(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT GLC3A LYS-387.
    20. "Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus."
      Bejjani B.A., Stockton D.W., Lewis R.A., Tomey K.F., Dueker D.K., Jabak M., Astle W.F., Lupski J.R.
      Hum. Mol. Genet. 9:367-374(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS GLC3A GLU-61; PRO-77; 269-SER--PHE-271 DEL; HIS-368; ASN-374; SER-390 AND TRP-469, VARIANTS GLY-48; SER-119; VAL-432 AND SER-453.
    21. "Novel compound heterozygous mutations in the cytochrome P4501B1 gene (CYP1B1) in a Japanese patient with primary congenital glaucoma."
      Ohtake Y., Kubota R., Tanino T., Miyata H., Mashima Y.
      Ophthalmic Genet. 21:191-193(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT GLC3A MET-364.
    22. "Association of CYP1B1 genetic polymorphism with incidence to breast and lung cancer."
      Watanabe J., Shimada T., Gillam E.M., Ikuta T., Suemasu K., Higashi Y., Gotoh O., Kawajiri K.
      Pharmacogenetics 10:25-33(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS SER-119 AND VAL-432, ASSOCIATION WITH BREAST OR LUNG CANCER.
    23. "Novel cytochrome P4501B1 (CYP1B1) gene mutations in Japanese patients with primary congenital glaucoma."
      Mashima Y., Suzuki Y., Sergeev Y., Ohtake Y., Tanino T., Kimura I., Miyata H., Aihara M., Tanihara H., Inatani M., Azuma N., Iwata T., Araie M.
      Invest. Ophthalmol. Vis. Sci. 42:2211-2216(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS GLC3A VAL-192; ILE-198; LEU-320; PHE-330; MET-364; GLN-444 AND GLY-499, VARIANTS GLY-48; SER-119 AND VAL-432.
    24. "Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene."
      Vincent A.L., Billingsley G., Buys Y., Levin A.V., Priston M., Trope G., Williams-Lyn D., Heon E.
      Am. J. Hum. Genet. 70:448-460(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT POAG PHE-345, VARIANT GLC1A HIS-368, VARIANT VAL-432.
    25. "Identification of novel mutations causing familial primary congenital glaucoma in Indian pedigrees."
      Panicker S.G., Reddy A.B.M., Mandal A.K., Ahmed N., Nagarajaram H.A., Hasnain S.E., Balasubramanian D.
      Invest. Ophthalmol. Vis. Sci. 43:1358-1366(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS GLC3A GLU-61; LEU-193; LYS-229 AND HIS-368, VARIANTS GLY-48; SER-184 AND VAL-432.
    26. "Molecular genetics of primary congenital glaucoma in Brazil."
      Stoilov I.R., Costa V.P., Vasconcellos J.P.C., Melo M.B., Betinjane A.J., Carani J.C.E., Oltrogge E.V., Sarfarazi M.
      Invest. Ophthalmol. Vis. Sci. 43:1820-1827(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS GLC3A HIS-368; LYS-387; LEU-437 AND GLY-443, VARIANTS GLY-48; SER-119; VAL-432 AND SER-453.
    27. "Functional analysis of six different polymorphic CYP1B1 enzyme variants found in an Ethiopian population."
      Aklillu E., Oscarson M., Hidestrand M., Leidvik B., Otter C., Ingelman-Sundberg M.
      Mol. Pharmacol. 61:586-594(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS GLY-48; SER-119; VAL-432; GLY-443 AND SER-453.
    28. "Gene symbol: CYP1B1. Disease: glaucoma, primary congenital."
      Chakrabarti S., Komatireddy S., Mandal A.K., Balasubramanian D.
      Hum. Genet. 113:556-558(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS GLC3A ARG-144 AND CYS-445.
    29. "Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France."
      Colomb E., Kaplan J., Garchon H.-J.
      Hum. Mutat. 22:496-496(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS GLC3A LYS-229; ARG-232; LYS-387; SER-390; SER-399 AND TYR-423, VARIANTS GLY-48; SER-119; VAL-432 AND SER-453.
    30. "CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patients."
      Sitorus R., Ardjo S.M., Lorenz B., Preising M.
      J. Med. Genet. 40:E9-E9(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS GLC3A ILE-215; 355-ARG--ALA-358 DEL AND MET-364, VARIANTS GLY-48; SER-119; VAL-432 AND SER-453.
    31. "CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma."
      Melki R., Colomb E., Lefort N., Brezin A.P., Garchon H.-J.
      J. Med. Genet. 41:647-651(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS POAG ASN-81; LYS-229; ARG-232; SER-269--PHE-271 DEL; LYS-387; HIS-390; TYR-423 AND GLY-443, VARIANTS GLC3A ARG-232; LYS-387 AND TYR-423, VARIANTS GLY-48; SER119; VAL-432 AND SER-453.
    32. "Mutation spectrum of the CYP1B1 gene in Indian primary congenital glaucoma patients."
      Reddy A.B.M., Kaur K., Mandal A.K., Panicker S.G., Thomas R., Hasnain S.E., Balasubramanian D., Chakrabarti S.
      Mol. Vis. 10:696-702(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS GLC3A PRO-77; PRO-115; ARG-132; PRO-144; LEU-193; LYS-229; ARG-239; HIS-368; HIS-390; CYS-390; LEU-437 AND ASP-466, VARIANTS GLY-48; SER-119; VAL-432 AND SER-453.
    33. "Cytochrome P4501B1 mutations cause only part of primary congenital glaucoma in Ecuador."
      Curry S.M., Daou A.G., Hermanns P., Molinari A., Lewis R.A., Bejjani B.A.
      Ophthalmic Genet. 25:3-9(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT GLC3A CYS-390.
    34. "Molecular and clinical evaluation of primary congenital glaucoma in Kuwait."
      Alfadhli S., Behbehani A., Elshafey A., Abdelmoaty S., Al-Awadi S.
      Am. J. Ophthalmol. 141:512-516(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS GLC3A GLU-61; HIS-368 AND THR-388, VARIANT GLY-422.
    35. "Primary role of CYP1B1 in Indian juvenile-onset POAG patients."
      Acharya M., Mookherjee S., Bhattacharjee A., Bandyopadhyay A.K., Daulat Thakur S.K., Bhaduri G., Sen A., Ray K.
      Mol. Vis. 12:399-404(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS POAG CYS-57; LYS-229; HIS-368; LEU-515; THR-523 AND GLY-530, VARIANTS GLY-48; SER-119; VAL-432; SER-453 AND ALA-518.
    36. "Primary congenital glaucoma and Rieger's anomaly: extended haplotypes reveal founder effects for eight distinct CYP1B1 mutations."
      Chavarria-Soley G., Michels-Rautenstrauss K., Pasutto F., Flikier D., Flikier P., Cirak S., Bejjani B., Winters D.L., Lewis R.A., Mardin C., Reis A., Rautenstrauss B.
      Mol. Vis. 12:523-531(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS GLC3A GLU-61; ASN-81; LYS-229; LEU-343 DEL; HIS-368; LYS-387 AND TRP-469.
    37. "Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma."
      Lopez-Garrido M.-P., Sanchez-Sanchez F., Lopez-Martinez F., Aroca-Aguilar J.-D., Blanco-Marchite C., Coca-Prados M., Escribano J.
      Mol. Vis. 12:748-755(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS POAG TRP-28; GLU-61; ASN-81; TRP-145; LYS-229; PHE-409 AND GLY-443, VARIANTS LEU-52; HIS-144; PRO-189 AND SER-330.
    38. "Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme."
      Chavarria-Soley G., Sticht H., Aklillu E., Ingelman-Sundberg M., Pasutto F., Reis A., Rautenstrauss B.
      Hum. Mutat. 29:1147-1153(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHARACTERIZATION OF VARIANTS GLC3A GLU-61; SER-203; LYS-229 AND LEU-343 DEL, CHARACTERIZATION OF VARIANT POAG ASN-81.

    Entry informationi

    Entry nameiCP1B1_HUMAN
    AccessioniPrimary (citable) accession number: Q16678
    Secondary accession number(s): Q5TZW8, Q93089, Q9H316
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 15, 1998
    Last sequence update: June 7, 2004
    Last modified: October 1, 2014
    This is version 167 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 2
      Human chromosome 2: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3