Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Q16678

- CP1B1_HUMAN

UniProt

Q16678 - CP1B1_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

Cytochrome P450 1B1

Gene

CYP1B1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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
Complete GO annotation...

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
Complete GO annotation...

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. 1 Publication
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. 1 Publication
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. 1 Publication
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

BgeeiQ16678.
CleanExiHS_CYP1B1.
ExpressionAtlasiQ16678. baseline and differential.
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.
GeneTreeiENSGT00760000118992.
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

        10         20         30         40         50
MGTSLSPNDP WPLNPLSIQQ TTLLLLLSVL ATVHVGQRLL RQRRRQLRSA
60 70 80 90 100
PPGPFAWPLI GNAAAVGQAA HLSFARLARR YGDVFQIRLG SCPIVVLNGE
110 120 130 140 150
RAIHQALVQQ GSAFADRPAF ASFRVVSGGR SMAFGHYSEH WKVQRRAAHS
160 170 180 190 200
MMRNFFTRQP RSRQVLEGHV LSEARELVAL LVRGSADGAF LDPRPLTVVA
210 220 230 240 250
VANVMSAVCF GCRYSHDDPE FRELLSHNEE FGRTVGAGSL VDVMPWLQYF
260 270 280 290 300
PNPVRTVFRE FEQLNRNFSN FILDKFLRHC ESLRPGAAPR DMMDAFILSA
310 320 330 340 350
EKKAAGDSHG GGARLDLENV PATITDIFGA SQDTLSTALQ WLLLLFTRYP
360 370 380 390 400
DVQTRVQAEL DQVVGRDRLP CMGDQPNLPY VLAFLYEAMR FSSFVPVTIP
410 420 430 440 450
HATTANTSVL GYHIPKDTVV FVNQWSVNHD PLKWPNPENF DPARFLDKDG
460 470 480 490 500
LINKDLTSRV MIFSVGKRRC IGEELSKMQL FLFISILAHQ CDFRANPNEP
510 520 530 540
AKMNFSYGLT IKPKSFKVNV TLRESMELLD SAVQNLQAKE TCQ
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. 1 Publication
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. 1 Publication
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

EnsembliENST00000610745; ENSP00000478561; ENSG00000138061.
ENST00000614273; ENSP00000483678; 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 DB00613. Amodiaquine.
DB01169. Arsenic trioxide.
DB00121. Biotin.
DB00201. Caffeine.
DB00363. Clozapine.
DB01254. Dasatinib.
DB00694. Daunorubicin.
DB01234. Dexamethasone.
DB01248. Docetaxel.
DB00997. Doxorubicin.
DB00530. Erlotinib.
DB00783. Estradiol.
DB00655. Estrone.
DB00499. Flutamide.
DB01026. Ketoconazole.
DB00448. Lansoprazole.
DB01065. Melatonin.
DB01204. Mitoxantrone.
DB00338. Omeprazole.
DB00526. Oxaliplatin.
DB01229. Paclitaxel.
DB01174. Phenobarbital.
DB01087. Primaquine.
DB01168. Procarbazine.
DB00396. Progesterone.
DB00818. Propofol.
DB00675. Tamoxifen.
DB00624. Testosterone.
DB00277. Theophylline.

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 ENST00000610745 ; ENSP00000478561 ; ENSG00000138061 .
ENST00000614273 ; ENSP00000483678 ; ENSG00000138061 .
GeneIDi 1545.
KEGGi hsa:1545.
UCSCi uc002rqo.2. human.

Organism-specific databases

CTDi 1545.
GeneCardsi GC02M038295.
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.
GeneTreei ENSGT00760000118992.
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

Bgeei Q16678.
CleanExi HS_CYP1B1.
ExpressionAtlasi Q16678. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 168 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