Human Gene CYP1B1 (ENST00000610745.5_8) from GENCODE V47lift37
  Description: cytochrome P450 family 1 subfamily B member 1 (from RefSeq NM_000104.4)
Gencode Transcript: ENST00000610745.5_8
Gencode Gene: ENSG00000138061.13_17
Transcript (Including UTRs)
   Position: hg19 chr2:38,294,652-38,303,293 Size: 8,642 Total Exon Count: 3 Strand: -
Coding Region
   Position: hg19 chr2:38,297,865-38,302,531 Size: 4,667 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:38,294,652-38,303,293)mRNA (may differ from genome)Protein (543 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CP1B1_HUMAN
DESCRIPTION: RecName: Full=Cytochrome P450 1B1; EC=1.14.14.1; AltName: Full=CYPIB1;
FUNCTION: Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics.
FUNCTION: Participates in the metabolism of an as-yet-unknown biologically active molecule that is a participant in eye development.
CATALYTIC ACTIVITY: RH + reduced flavoprotein + O(2) = ROH + oxidized flavoprotein + H(2)O.
COFACTOR: Heme group (By similarity).
BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=6.0 uM for 17-beta-estradiol; KM=17.0 uM for testosterone; KM=24.0 uM for progesterone; Vmax=14.95 nmol/min/mg enzyme for 17-beta-estradiol 4- hydroxylation; Vmax=6.9 nmol/min/mg enzyme for 17-beta-estradiol 2- hydroxylation; Vmax=36.16 nmol/min/mg enzyme for testosterone 6-beta- hydroxylation; Vmax=9.86 nmol/min/mg enzyme for progesterone 6-beta- hydroxylation; Vmax=37.80 nmol/min/mg enzyme for progesterone 16-alpha- hydroxylation;
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral membrane protein.
TISSUE SPECIFICITY: Expressed in many tissues.
INDUCTION: By polycyclic aromatic hydrocarbons (PAH) and 2,3,7,8- tetrachlorodibenzo-p-dioxin (TCDD).
POLYMORPHISM: Various CYP1B1 alleles are known. The sequence shown is that of allele CYP1B1*1.
DISEASE: Defects in CYP1B1 are the cause of primary congenital glaucoma type 3A (GLC3A) [MIM:231300]. GLC3A is 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.
DISEASE: Defects in CYP1B1 are a cause of primary open angle glaucoma (POAG) [MIM:137760]. POAG is 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. The disease is 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.
DISEASE: Defects in CYP1B1 are a cause of Peters anomaly (PAN) [MIM:604229]. Peters anomaly is a congenital defect of the anterior chamber of the eye.
SIMILARITY: Belongs to the cytochrome P450 family.
WEB RESOURCE: Name=Cytochrome P450 Allele Nomenclature Committee; Note=CYP1B1 alleles; URL="http://www.cypalleles.ki.se/cyp1b1.htm";
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CYP1B1";
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/cyp1b1/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CYP1B1
Diseases sorted by gene-association score: glaucoma 3a, primary open angle, congenital, juvenile, or adult onset* (1578), anterior segment dysgenesis 6, multiple subtypes* (900), peters-plus syndrome* (505), anterior segment dysgenesis 5, multiple subtypes* (283), glaucoma 1a, primary open angle* (212), glaucoma 1, open angle, e* (188), cyp1b1-related primary congenital glaucoma* (100), juvenile glaucoma* (42), primary congenital glaucoma (36), open-angle glaucoma (22), axenfeld-rieger syndrome (19), corneal edema (16), adamantinoma of long bones (13), aniridia (12), early-onset glaucoma (12), hydrophthalmos (12), primary angle-closure glaucoma (11), gastrointestinal adenoma (11), breast disease (9), acrofrontofacionasal dysostosis (8), excessive tearing (7), weber syndrome (7), mycetoma (7), iris hypoplasia (6), eye disease (5), pulmonary immaturity (5), endometrial cancer (3), breast cancer (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -143.90372-0.387 Picture PostScript Text
3' UTR -761.703213-0.237 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001128 - Cyt_P450
IPR017972 - Cyt_P450_CS
IPR002401 - Cyt_P450_E_grp-I

Pfam Domains:
PF00067 - Cytochrome P450

SCOP Domains:
48264 - Cytochrome P450

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3PM0 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q16678
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004497 monooxygenase activity
GO:0005506 iron ion binding
GO:0016491 oxidoreductase activity
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen
GO:0016712 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
GO:0019825 oxygen binding
GO:0020037 heme binding
GO:0046872 metal ion binding
GO:0070330 aromatase activity

Biological Process:
GO:0001525 angiogenesis
GO:0002930 trabecular meshwork development
GO:0006725 cellular aromatic compound metabolic process
GO:0006805 xenobiotic metabolic process
GO:0006809 nitric oxide biosynthetic process
GO:0007155 cell adhesion
GO:0007601 visual perception
GO:0008202 steroid metabolic process
GO:0008210 estrogen metabolic process
GO:0008285 negative regulation of cell proliferation
GO:0008631 intrinsic apoptotic signaling pathway in response to oxidative stress
GO:0009404 toxin metabolic process
GO:0009636 response to toxic substance
GO:0010575 positive regulation of vascular endothelial growth factor production
GO:0016125 sterol metabolic process
GO:0019369 arachidonic acid metabolic process
GO:0019373 epoxygenase P450 pathway
GO:0030199 collagen fibril organization
GO:0030336 negative regulation of cell migration
GO:0032088 negative regulation of NF-kappaB transcription factor activity
GO:0033629 negative regulation of cell adhesion mediated by integrin
GO:0042572 retinol metabolic process
GO:0042574 retinal metabolic process
GO:0043065 positive regulation of apoptotic process
GO:0043542 endothelial cell migration
GO:0045766 positive regulation of angiogenesis
GO:0046427 positive regulation of JAK-STAT cascade
GO:0046466 membrane lipid catabolic process
GO:0048514 blood vessel morphogenesis
GO:0055114 oxidation-reduction process
GO:0061298 retina vasculature development in camera-type eye
GO:0061304 retinal blood vessel morphogenesis
GO:0070301 cellular response to hydrogen peroxide
GO:0071407 cellular response to organic cyclic compound
GO:0071603 endothelial cell-cell adhesion
GO:0097267 omega-hydroxylase P450 pathway
GO:2000377 regulation of reactive oxygen species metabolic process

Cellular Component:
GO:0005739 mitochondrion
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0031090 organelle membrane
GO:0043231 intracellular membrane-bounded organelle


-  Descriptions from all associated GenBank mRNAs
  LF210932 - JP 2014500723-A/18435: Polycomb-Associated Non-Coding RNAs.
LP895403 - Sequence 267 from Patent EP3253886.
U03688 - Human dioxin-inducible cytochrome P450 (CYP1B1) mRNA, complete cds.
FW340004 - Screening.
JD112685 - Sequence 93709 from Patent EP1572962.
JD315666 - Sequence 296690 from Patent EP1572962.
JD445215 - Sequence 426239 from Patent EP1572962.
LF342213 - JP 2014500723-A/149716: Polycomb-Associated Non-Coding RNAs.
JD526667 - Sequence 507691 from Patent EP1572962.
JD095536 - Sequence 76560 from Patent EP1572962.
JD434265 - Sequence 415289 from Patent EP1572962.
JD485441 - Sequence 466465 from Patent EP1572962.
LF342214 - JP 2014500723-A/149717: Polycomb-Associated Non-Coding RNAs.
JD495204 - Sequence 476228 from Patent EP1572962.
JD263769 - Sequence 244793 from Patent EP1572962.
JD559809 - Sequence 540833 from Patent EP1572962.
JD300409 - Sequence 281433 from Patent EP1572962.
JD224110 - Sequence 205134 from Patent EP1572962.
BC012049 - Homo sapiens cytochrome P450, family 1, subfamily B, polypeptide 1, mRNA (cDNA clone MGC:19842 IMAGE:4662252), complete cds.
JD550638 - Sequence 531662 from Patent EP1572962.
JD219044 - Sequence 200068 from Patent EP1572962.
JD047292 - Sequence 28316 from Patent EP1572962.
JD522010 - Sequence 503034 from Patent EP1572962.
JD093590 - Sequence 74614 from Patent EP1572962.
JD530143 - Sequence 511167 from Patent EP1572962.
JD501124 - Sequence 482148 from Patent EP1572962.
JD089032 - Sequence 70056 from Patent EP1572962.
AK297039 - Homo sapiens cDNA FLJ51600 complete cds, highly similar to Cytochrome P450 1B1 (EC 1.14.14.1).
LF342215 - JP 2014500723-A/149718: Polycomb-Associated Non-Coding RNAs.
JD225848 - Sequence 206872 from Patent EP1572962.
JD082418 - Sequence 63442 from Patent EP1572962.
AK303862 - Homo sapiens cDNA FLJ51599 complete cds, highly similar to Cytochrome P450 1B1 (EC 1.14.14.1).
AK312686 - Homo sapiens cDNA, FLJ93081, Homo sapiens cytochrome P450, family 1, subfamily B, polypeptide 1(CYP1B1), mRNA.
BT019979 - Homo sapiens cytochrome P450, family 1, subfamily B, polypeptide 1 mRNA, complete cds.
BT020001 - Homo sapiens cytochrome P450, family 1, subfamily B, polypeptide 1 mRNA, complete cds.
JF432813 - Synthetic construct Homo sapiens clone IMAGE:100074131 cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) gene, encodes complete protein.
KJ904445 - Synthetic construct Homo sapiens clone ccsbBroadEn_13839 CYP1B1 gene, encodes complete protein.
LF342216 - JP 2014500723-A/149719: Polycomb-Associated Non-Coding RNAs.
LF342217 - JP 2014500723-A/149720: Polycomb-Associated Non-Coding RNAs.
LF212715 - JP 2014500723-A/20218: Polycomb-Associated Non-Coding RNAs.
LF213407 - JP 2014500723-A/20910: Polycomb-Associated Non-Coding RNAs.
CU680174 - Synthetic construct Homo sapiens gateway clone IMAGE:100019829 5' read CYP1B1 mRNA.
LF342220 - JP 2014500723-A/149723: Polycomb-Associated Non-Coding RNAs.
JD253398 - Sequence 234422 from Patent EP1572962.
JD139272 - Sequence 120296 from Patent EP1572962.
JD228185 - Sequence 209209 from Patent EP1572962.
MA577790 - JP 2018138019-A/149716: Polycomb-Associated Non-Coding RNAs.
MA577791 - JP 2018138019-A/149717: Polycomb-Associated Non-Coding RNAs.
MA577792 - JP 2018138019-A/149718: Polycomb-Associated Non-Coding RNAs.
MA577793 - JP 2018138019-A/149719: Polycomb-Associated Non-Coding RNAs.
MA577794 - JP 2018138019-A/149720: Polycomb-Associated Non-Coding RNAs.
MA577797 - JP 2018138019-A/149723: Polycomb-Associated Non-Coding RNAs.
MA446509 - JP 2018138019-A/18435: Polycomb-Associated Non-Coding RNAs.
MA448292 - JP 2018138019-A/20218: Polycomb-Associated Non-Coding RNAs.
MA448984 - JP 2018138019-A/20910: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-6398 - melatonin degradation I
PWY-6402 - superpathway of melatonin degradation
PWY66-401 - superpathway of L-tryptophan utilization

Reactome (by CSHL, EBI, and GO)

Protein Q16678 (Reactome details) participates in the following event(s):

R-HSA-211951 CYP1B1 4-hydroxylates EST17b
R-HSA-2161814 Arachidonic acid is hydroxylated to 19-HETE by CYP(2)
R-HSA-2161890 Arachidonic acid is epoxidated to 5,6-EET by CYP(4)
R-HSA-2161940 Arachidonic acid is hydroxylated to 20-HETE by CYP(3)
R-HSA-2161899 Arachidonic acid is epoxidated to 8,9/11,12/14,15-EET by CYP(5)
R-HSA-2161795 Arachidonic acid is hydroxylated to 16/17/18-HETE by CYP(1)
R-HSA-211976 Endogenous sterols
R-HSA-2142816 Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE)
R-HSA-2142670 Synthesis of epoxy (EET) and dihydroxyeicosatrienoic acids (DHET)
R-HSA-211897 Cytochrome P450 - arranged by substrate type
R-HSA-2142753 Arachidonic acid metabolism
R-HSA-211945 Phase I - Functionalization of compounds
R-HSA-8978868 Fatty acid metabolism
R-HSA-211859 Biological oxidations
R-HSA-556833 Metabolism of lipids
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: CP1B1_HUMAN, CYP1B1 , ENST00000610745.1, ENST00000610745.2, ENST00000610745.3, ENST00000610745.4, NM_000104, Q16678, Q5TZW8, Q93089, Q9H316, uc327myb.1, uc327myb.2
UCSC ID: ENST00000610745.5_8
RefSeq Accession: NM_000104.4
Protein: Q16678 (aka CP1B1_HUMAN or CP1B_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene CYP1B1:
glc (Primary Congenital Glaucoma)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.