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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CYP1B1 Gene

protein-coding GIFtS: 72
GCID: GC02M038206

cytochrome P450, family 1, subfamily B, polypeptide 1

(Previous names: cytochrome P450, subfamily I (dioxin-inducible), polypeptide...)
(Previous symbol: GLC3A)

Explore 114 diseases affiliated with
CYP1B1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Cytochrome P450, Family 1, Subfamily B, Polypeptide 1¹ ²		P4501B1²
GLC3A¹ ² ⁵		Aryl Hydrocarbon Hydroxylase²
CP1B¹ ²		Cytochrome P450 1B1²
Cytochrome P450, Subfamily I (Dioxin-Inducible), Polypeptide 1 (Glaucoma 3, Primary Infantile)¹ ²		Flavoprotein-Linked Monooxygenase²
CYPIB1² ³		Microsomal Monooxygenase²
EC 1.14.14.1³ ⁸		Xenobiotic Monooxygenase²

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

Export aliases for CYP1B1 gene to outside databases

Previous GC identifers: GC02M038259 GC02M038441 GC02M038269 GC02M038148 GC02M038034

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CYP1B1:

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are

monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and

other lipids. The enzyme encoded by this gene localizes to the endoplasmic reticulum and metabolizes procarcinogens

such as polycyclic aromatic hydrocarbons and 17beta-estradiol. Mutations in this gene have been associated with

primary congenital glaucoma; therefore it is thought that the enzyme also metabolizes a signaling molecule involved in

eye development, possibly a steroid. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: CP1B1_HUMAN, Q16678

Function: Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in

an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including

steroids, fatty acids, and xenobiotics

Function: Participates in the metabolism of an as-yet-unknown biologically active molecule that is a participant in eye

development

summary for CYP1B1:

Cytochrome P450 (CYP450) enzymes are a diverse group of catalysts that contains 57 members in humans. CYPs

are usually membrane-bound and are localized to the inner mitochondrial or endoplasmic reticular membrane.

CYPs have oxygenase activity and commonly catalyze redox reactions, involving the oxidation of the substrate

and reduction of water. This group of enzymes contain a heme ion within the active site, which is essential

for catalytic activity. CYPs have been found in all organisms tested and are ubiquitously expressed. They

are found at high levels in the liver, where they have an important role in metabolism of drugs and

endogenous toxic compounds (for example bilirubin). Most CYPs can metabolize numerous substrates and this

accounts for their major role in drug interactions. CYPs also have functions in steroid hormone synthesis,

cholesterol synthesis and vitamin D metabolism.

Gene Wiki entry for CYP1B1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000002.11 NC_018913.1 NT_022184.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CYP1B1 gene promoter:
AhR CREB deltaCREB MyoD Arnt
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): CYP1B1 promoter sequence

Search SABiosciences Chromatin IP Primers for CYP1B1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CYP1B1

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

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

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

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02M038206: view genomic region (about GC identifiers)

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

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CP1B1_HUMAN, Q16678 (See protein sequence)

Recommended Name: Cytochrome P450 1B1

Size: 543 amino acids; 60846 Da

Cofactor: Heme group (By similarity)

Subcellular location: Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral

membrane protein

1 PDB 3D structure from and Proteopedia for CYP1B1:

3PM0 (3D)

Secondary accessions: Q5TZW8 Q93089 Q9H316

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

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q16678

2 DME Specific Peptides for CYP1B1 (Q16678)

GKRRCIGE

RRYGDVFQIRLGS

CYP1B1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000095.2

ENSEMBL proteins:

ENSP00000260630 ENSP00000384972

Reactome Protein details: Q16678
Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene Protein Over-expression Lysate: CYP1B1 OriGene Custom Protein Services for CYP1B1
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	Novus Biologicals CYP1B1 Protein Novus Biologicals CYP1B1 Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for CYP1B1

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005789	endoplasmic reticulum membrane	TAS	--
GO:0005792	microsome	--	--

CYP1B1 for ontologies About GeneDecksing

CYP1B1 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of CYP1B1
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	Novus Biologicals CYP1B1 Antibodies
	Abcam antibodies for CYP1B1
	Uscn Antibodies for CYP1B1
	ThermoFisher Antibodies for CYP1B1

Assay Products for CYP1B1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for CYP1B1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for CYP1B1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CYP1B1 for domains About GeneDecksing

3 InterPro domains/families:

IPR001128 Cyt_P450

IPR017972 Cyt_P450_CS

IPR002401 Cyt_P450_E_grp-I

Graphical View of Domain Structure for InterPro Entry Q16678

ProtoNet protein and cluster: Q16678

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

UniProtKB/Swiss-Prot: CP1B1_HUMAN, Q16678

Similarity: Belongs to the cytochrome P450 family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: CP1B1_HUMAN, Q16678

Function: Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in

an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including

steroids, fatty acids, and xenobiotics

Function: Participates in the metabolism of an as-yet-unknown biologically active molecule that is a participant in eye

development

Catalytic activity: RH + reduced flavoprotein + O(2) = ROH + oxidized flavoprotein + H(2)O

Biophysicochemical properties: Kinetic parameters: KM=6.0 uM for 17-beta-estradiol; KM=17.0 uM for testosterone;

KM=24.0 uM for progesterone; Vmax=14.95 nmol/min/mg enzyme for 17-beta-estradiol 4- hydroxylation; Vmax=6.9

nmol/min/mg enzyme for 17-beta-estradiol 2- hydroxylation; Vmax=36.16 nmol/min/mg enzyme for testosterone 6-beta-

hydroxylation; Vmax=9.86 nmol/min/mg enzyme for progesterone 6-beta- hydroxylation; Vmax=37.80 nmol/min/mg enzyme for

progesterone 16-alpha- hydroxylation;

Induction: By polycyclic aromatic hydrocarbons (PAH) and 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD)

Genatlas biochemistry entry for CYP1B1:

cytochrome p450,family I (aromatic compound inducible),member B1,expressed in ocular structures of the anterior uveal

tract,possibly involved in the metabolism of substances active in the eye growth and differentiation

Enzyme Number (IUBMB): EC 1.14.14.1¹ ²

miRNA Products:		miRTarBase miRNAs that target CYP1B1: hsa-mir-124 (MIRT002598), hsa-mir-27b (MIRT004826)

		OriGene 3'-UTR Clone: CYP1B1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CYP1B1
		8/20 QIAGEN miScript miRNA Assays for microRNAs that regulate CYP1B1 (see all 20):
		hsa-miR-148b* hsa-miR-429 hsa-miR-513a-5p hsa-miR-373* hsa-miR-380* hsa-miR-4314 hsa-miR-3613-3p hsa-miR-200b

		SwitchGear 3'UTR luciferase reporter plasmid: CYP1B1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CYP1B1 (see all 7) OriGene shRNA RFP: CYP1B1 OriGene siRNA: CYP1B1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CYP1B1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for CYP1B1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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		GenScript: all cDNA clones in your preferred vector: CYP1B1 (NM_000104)
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for CYP1B1
		Search LifeMap BioReagents cell lines for CYP1B1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYP1B1

Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004497	monooxygenase activity	TAS	9097971
GO:0005506	iron ion binding	IEA	--
GO:0009055	electron carrier activity	IEA	--
GO:0016491	oxidoreductase activity	--	--
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	IDA	10871058

CYP1B1 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for CYP1B1:

Decreased viability of wild-ty

Animal Models:
Mouse knock-out Cyp1b1^tm1Gonz for CYP1B1
3 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Cyp1b1):

homeostasis/metabolism

tumorigenesis

vision/eye

CYP1B1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/15 super-pathways (see all 15) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Synthesis of epoxy (EET) and dihydroxyeicosatrienoic acids (DHET)

Synthesis of epoxy (EET) and dihydroxyeicosatrienoic acids (DHET)	1.00	Benzo[a]pyrene metabolism	0.33
Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE)	0.55	Benzo[a]pyrene metabolism	0.33
Amodiaquine Pathway, Pharmacokinetics	0.38

Cytochrome P450 - arranged by substrate type

	Cytochrome P450 - arranged by substrate type	1.00			cytochrome P450	0.73
	Phase 1 - Functionalization of compounds	0.74

Tamoxifen metabolism

	Tamoxifen metabolism	1.00			Estradiol metabolism	0.52
	Estradiol metabolism	0.52

Retinol metabolism

Retinol metabolism

1.00

Retinol metabolism

0.95

Biological oxidations

Biological oxidations

1.00

metapathway biotransformation

0.41

Pathway sources
See GeneCards unified pathways
Show all pathways

3 EMD Millipore Pathways for CYP1B1

	Estradiol metabolism
	Retinol metabolism
	Benzo[a]pyrene metabolism

3 GeneGo (Thomson Reuters) Pathways for CYP1B1

	Estradiol metabolism
	Retinol metabolism
	Benzo[a]pyrene metabolism

5/8 BioSystems Pathways for CYP1B1 (see all 8)

	cytochrome P450
	melatonin degradation I
	Tamoxifen metabolism
	Benzo(a)pyrene metabolism
	Estrogen metabolism

5/9 Reactome Pathways for CYP1B1 (see all 9)

	Cytochrome P450 - arranged by substrate type
	Metabolism
	Arachidonic acid metabolism
	Endogenous sterols
	Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE)

3 PharmGKB Pathways for CYP1B1

	Amodiaquine Pathway, Pharmacokinetics
	Estrogen Metabolism Pathway
	Taxane Pathway, Pharmacokinetics

3 Kegg Pathways (Kegg details for CYP1B1):

	Steroid hormone biosynthesis
	Tryptophan metabolism
	Metabolism of xenobiotics by cytochrome P450

CYP1B1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for CYP1B1

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

5/52 Interacting proteins for CYP1B1 (Q16678³ ENSP00000260630⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 52)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SAE1	Q9UBE0³, ENSP00000270225⁴	I2D: score=2 STRING: ENSP00000270225
COMT	ENSP00000354511⁴	STRING: ENSP00000354511
CYP1A1	ENSP00000369050⁴	STRING: ENSP00000369050
EPHX1	ENSP00000272167⁴	STRING: ENSP00000272167
GSTA1	ENSP00000335620⁴	STRING: ENSP00000335620

About this table

Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001525	angiogenesis	IEA	--
GO:0006725	cellular aromatic compound metabolic process	IEA	--
GO:0006805	xenobiotic metabolic process	TAS	--
GO:0007601	visual perception	TAS	9097971
GO:0008210	estrogen metabolic process	--	--

CYP1B1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

CYP1B1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for CYP1B1 available from Tocris Bioscience About this table

Compound	Action	CAS #
TMS	Cytochrome P450 1B1 inhibitor	[24144-92-1]

10/51 HMDB Compounds for CYP1B1 (see all 51) About this table

Compound	Synonyms	CAS #	PubMed Ids
Melatonin	5-Methoxy-N-acetyltryptamine (see all 23)	73-31-4	19919601
10-HETE	10-hydroxyeicosa-all-cis-5,8,11,14-tetraenoate (see all 2)	167697-52-1	--
11,12,15-THETA	11,12,15-Trihydroxyicosatrienoic acid (see all 5)	--	--
11,12-Epoxyeicosatrienoic acid	10-(3-(2-octenyl)oxiranyl)-5,8-Decadienoic acid (see all 15)	81276-02-0	--
11,14,15-THETA	(5Z,8Z,12E)-11,14,15-Trihydroxyeicosa-5,8,12-trienoic acid (see all 8)	--	--
11H-14,15-EETA	14,15-Ep-11-HETrE (see all 11)	219535-29-2	--
11beta-Hydroxytestosterone	11beta,17beta-dihydroxyandrost-4-en-3-one	1816-85-9	--
12,13-EpOME	Vernolic acid (see all 12)	--	--
13-HETE	13-hydroxy-5Z,8Z,11Z,14Z-eicosatetraenoate (see all 2)	151910-72-4	--
14,15-Epoxy-5,8,11-eicosatrienoic acid	(5Z,8Z,11Z)-14,15-Epoxyicosa-5.8.11-trienoic acid (see all 11)	81276-03-1	--

10/29 DrugBank Compounds for CYP1B1 (see all 29) About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Melatonin	MEL (see all 4)	73-31-4	enzyme	substrate inhibitor	19919601 15616152 19934256
Tamoxifen	Tamoxifen Citrate (see all 5)	10540-29-1	enzyme	substrate inhibitor	12124303 19934256 19515014
Dasatinib	--	302962-49-8	enzyme	substrate	18556438 19733976
Erlotinib	--	183321-74-6	enzyme	substrate	17575239 19733976
Amodiaquine	Amodiaquin (see all 4)	86-42-0	enzyme	substrate	19934256
Arsenic trioxide	Acide Arsenieux [French] (see all 11)	1327-53-3	enzyme	inhibitor	19934256
Biotin	(+)-cis-Hexahydro-2-oxo-1H-thieno[3,4]imidazole-4-valeric acid (see all 7)	58-85-5	enzyme	inducer	19934256
Caffeine	Cafeina (see all 7)	58-08-2	enzyme	substrate	19934256
Clozapine	--	5786-21-0	enzyme	inducer	19934256
Daunorubicin	--	20830-81-3	enzyme	inhibitor	19934256

10/89 Novoseek chemical compound relationships for CYP1B1 gene (see all 89) About this table

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

3 PharmGKB related drug/compound annotations for CYP1B1 gene

Drug/compound	PharmGKB Annotation
docetaxel	CA
paclitaxel	CA
taxanes	CA

About this table

Search CenterWatch for drugs/clinical trials and news about CYP1B1 / CP1B1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CYP1B1 gene:

NM_000104.3

Unigene Cluster for CYP1B1:

Cytochrome P450, family 1, subfamily B, polypeptide 1

Hs.154654 [show with all ESTs]

Unigene Representative Sequence: NM_000104

7 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000491456 ENST00000260630(uc002rqo.2) ENST00000494864 ENST00000407341

ENST00000492443 ENST00000462864 ENST00000490576

miRNA Products:		OriGene 3'-UTR Clone: CYP1B1 Browse OriGene MicroRNA Expression Plasmids
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		8/20 QIAGEN miScript miRNA Assays for microRNAs that regulate CYP1B1 (see all 20):
		hsa-miR-148b* hsa-miR-429 hsa-miR-513a-5p hsa-miR-373* hsa-miR-380* hsa-miR-4314 hsa-miR-3613-3p hsa-miR-200b

		SwitchGear 3'UTR luciferase reporter plasmid: CYP1B1 3' UTR sequence

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		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CYP1B1

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		GenScript: all cDNA clones in your preferred vector: CYP1B1 (NM_000104)
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CYP1B1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CYP1B1

Additional cDNA sequence:

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

12 DOTS entries:

DT.418226 DT.100821969 DT.92435805 DT.92435803 DT.102829085 DT.120991308 DT.100693309 DT.100000381

DT.100698856 DT.120991321 DT.92435795 DT.97778366

24/315 AceView cDNA sequences (see all 315):

CA389682 AI570794 BQ949152 BQ020275 AI753226 AI082041 AA320336 N64315

AW305164 AW137289 AI185319 AI612742 CA449207 AI659110 AW134926 AI754533

AI283699 H99752 T89153 AU118236 BM673435 AI090456 CB144589 BQ029445

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CYP1B1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AATGCTTTTA

About this image

CYP1B1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

10/14 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 14)

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Brain

Choroid Plexus

Mature Choroid Plexus Cells

Choroid Plexus

Eye

Inner Nuclear Layer

Cholinergic Amacrine Cells

Amacrine, Retina

Kidney

Bowman's Capsule

Parietal Epithelial Cells

Kidney

S-shaped Body Medial Segment

S-shaped Body Medial Cells

Kidney

Ovary

Muscle Progenitor Cells

Skeletal Muscle

Mandibular Arch Muscles

Muscle Progenitor Cells

Skeletal Muscle

Adipose

Body Subcutaneous White Adipose

Adipose

Visceral White Adipose

Adipose

Kidney

Bowman's Capsule

Kidney

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 6 LifeMap Cells

Name

Category

PureStem™ mesenchymal progenitor MEL2 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ mesenchymal progenitor 4D20.8 (Embryonic Progenitor Cell)

Lateral Plate Mesoderm, Neural Crest

PureStem™ mesenchymal progenitor E15 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ progenitor EN13 (Embryonic Progenitor Cell)

Syncytiotrophoblast-like cells (Generation of syncyt...)

Primordial germ cell-like cells (Reconstitution of mo...)

See CYP1B1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CYP1B1

SOURCE GeneReport for Unigene cluster: Hs.154654

UniProtKB/Swiss-Prot: CP1B1_HUMAN, Q16678

Tissue specificity: Expressed in many tissues

SABiosciences Expression via Pathway-Focused PCR Arrays including CYP1B1 (see all 6):

Lung Cancer in human mouse rat

Amino Acid Metabolism I in human mouse rat

Polycomb & Trithorax Target Genes in human mouse rat

Drug Metabolism: Phase I Enzymes in human mouse rat

Cellular Stress Responses in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CYP1B1 Browse OriGene validated miRNA SYBR primer pairs
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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for CYP1B1 gene from 6/20 species (see all 20) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	CYP1B1¹	cytochrome P450, family 1, subfamily B, polypeptide more	62.14(n) 53.96(a)		428832 XM_001233594.1 XP_001233595.1
lizard (Anolis carolinensis)	Reptilia	CYP1B1⁶	--	66(a)	1 ↔ 1	1(232393244-232397165)
zebrafish (Danio rerio)	Actinopterygii	cyp1b1²	cytochrome P450, family 1, subfamily B, polypeptide more	74.82(n)		373883 AF235139.1
fruit fly (Drosophila melanogaster)	Insecta	Cyp303a1⁶ Cyp305a1⁶ (see all 5)	Cyp305a1 (see all 5)	24(a) 24(a) (see all 5)	possible ortholog possible ortholog (see all 5)	2L(16294207-16295997) 3L(19803503-19806439)
thale cress (Arabidopsis thaliana)	eudicotyledons	TT7¹	Flavonoid 3'-monooxygenase	41(n) 28.24(a)		830693 NM_120881.2 NP_196416.1
rice (Oryza sativa)	Liliopsida	Os10g0320100¹	hypothetical protein	46.77(n) 29.3(a)		4348304 NM_001070873.1 NP_001064338.1

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for CYP1B1 gene

CYP1A2² CYP17A1² CYP1A1² CYP2G1P² ENSG00000198251² CYP21A2²

18/29 SIMAP similar genes for CYP1B1 using alignment to 12 protein entries: CP1B1_HUMAN (see all proteins) (see all similar genes):

DKFZp686I24235 CYP1A2 CYP1A1 CYP2U1 CYP2D7P1 CYP2R1

CYP2J2 CYP2A13 CYP2A7 CYP2B CYP2G1P CYP2B7

CYP2E1 CYP2B6 CYP2C9 CYP 2C CYP2A6 CYP2C18

CYP1B1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

UniProtKB/Swiss-Prot: CP1B1_HUMAN, Q16678

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

SNP ID	Valid	Clinical significance	Chr 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs28936701^1,2	C	pathogenic	38038026(-)	`AAAGGC/TGGTGC`	2	R W	mis¹		2		NS NA	182
rs55989760^1,2	C,F	pathogenic	38038272(-)	`TTTATA/C/GAAGCC`	3	K Q E	mis¹		2		CSA NA	4543
rs104893622^1,2	C	pathogenic	38038311(-)	`TGGGTA/GACCAG`	2	N D	mis¹		0	--	--	--	--
rs79204362^1,2	C,F,	pathogenic	38038328(+)	`GCAGAC/TGGTCC`	2	H R	mis¹		2		NA EU	5849
rs28936700^1,2	C	pathogenic	38042284(-)	`GATCGG/AAAACG`	2	/E /G	mis¹		1		NA	2
rs72549387^1,2	C	pathogenic	38042295(-)	`GCGTGA/C/GCCACT`	3	* C W	stg¹ mis¹		0	--	--	--	--
rs72549389^1,2	C	pathogenic	38042464(-)	`CAGCAC/TGGGCA`	2	T M	mis¹		0	--	--	--	--
rs9282671^1,2	C,F,	untested	38042225(-)	`GGCGCT/AACGGC`	2	/N /Y	mis¹ ese³		7		MN NA	764
rs9341269^1,2	C,F,H,	--	38034182(-)	`CTTTTT/CACTTG`	1	--	ds500¹		8		NS NA WA	1178
rs62136340^1,2		--	38034379(+)	`GAAATC/TGATCA`	1	--	ds500¹		1		NA	2

HapMap Linkage Disequilibrium report for CYP1B1 (38294116 - 38337044 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for CYP1B1
2 Indels: 89594 78506
Human Gene Mutation Database (HGMD): CYP1B1

Locus Specific Mutation Databases (LSDB): CYP1B1

SABiosciences Cancer Mutation PCR Assays

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DNA2.0 Custom Variant and Variant Library Synthesis for CYP1B1

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

CYP1B1 for disorders           About GeneDecksing

OMIM gene information: 601771
OMIM disorders: 231300  604229  137760  137750
UniProtKB/Swiss-Prot: CP1B1_HUMAN, Q16678

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

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

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

20/114 diseases for CYP1B1 (see all 114): About MalaCards

glaucoma glaucoma, primary open angle, juvenile-onset primary congenital glaucoma glaucoma, early-onset, digenic

open-angle glaucoma angle-closure glaucoma primary open angle glaucoma sturge-weber syndrome

primary angle-closure glaucoma axenfeld-rieger syndrome estrogen-receptor negative breast cancer antley-bixler syndrome

early-onset glaucoma human immunodeficiency virus infectious disease cholesterol peters anomaly

weber syndrome testicular germ cell tumor malignant pleural mesothelioma intrahepatic cholestasis

3 diseases from the University of Copenhagen DISEASES database for CYP1B1:

Glaucoma Breast cancer Axenfeld-Rieger syndrome

10/48 Novoseek disease relationships for CYP1B1 gene (see all 48) About this table

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

GeneTests: CYP1B1

Primary Congenital Glaucoma

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

Export disorders for CYP1B1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for CYP1B1 gene, integrated from 9 sources (see all 793):
(articles sorted by number of sources associating them with CYP1B1)

Utopia: connect your pdf to the dynamic
world of online information

Association of cytochrome P450 1B1 (CYP1B1) polymorphism with steroid receptor status in breast cancer. (PubMed id 9823305)^{1, 2, 4, 9} Bailey L.R.... Parl F.F. (1998)
Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. (PubMed id 11774072)^{1, 2, 4, 9} Vincent A.L.... Heon E. (2002)
CYP1B1 mutations in French patients with early-onset primary open- angle glaucoma. (PubMed id 15342693)^{1, 2, 4, 9} Melki R.... Garchon H.-J. (2004)
Mutation spectrum of the CYP1B1 gene in Indian primary congenital glaucoma patients. (PubMed id 15475877)^{1, 2, 4, 9} Reddy A.B....Chakrabarti S. (2004)
Complete cDNA sequence of a human dioxin-inducible mRNA identifies a new gene subfamily of cytochrome P450 that maps to chromosome 2. (PubMed id 8175734)^{1, 2, 3, 9} Sutter T.R.... Greenlee W.F. (1994)
Functional analysis of six different polymorphic CYP1B1 enzyme variants found in an Ethiopian population. (PubMed id 11854439)^{1, 2, 4, 9} Aklillu E....Ingelman-Sundberg M. (2002)
Primary congenital glaucoma and Rieger's anomaly: extended haplotypes reveal founder effects for eight distinct CYP1B1 mutations. (PubMed id 16735994)^{1, 2, 9} Chavarria-Soley G.... Rautenstrauss B. (2006)
Cytochrome P450 1B1 and catechol-O-methyltransferase genetic polymorphisms and breast cancer risk in Chinese women: results from the shanghai breast cancer study and a meta-analysis. (PubMed id 15734954)^{1, 4, 9} Wen W....Zheng W. (2005)
CYP1A1 and CYP1B1 genotypes, haplotypes, and TCDD-induced gene expression in subjects from Seveso, Italy. (PubMed id 15596250)^{1, 4, 9} Landi M.T....Bell D.A. (2005)
Interaction between genetic polymorphism of cytochrome P450-1B1 and environmental pollutants in breast cancer risk. (PubMed id 15075793)^{1, 4, 9} Saintot M....Gerber M. (2004)

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

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

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 1545	HGNC: 2597	AceView: CYP1B1	Ensembl:ENSG00000138061	euGenes: HUgn1545
ECgene: CYP1B1	Kegg: 1545	H-InvDB: CYP1B1

(According to HUGE)
About This Section

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

Name	Description
PharmGKB entry for CYP1B1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for CYP1B1	Genetics and Cytogenetics in Oncology and Haematology
Cytochrome P450 Allele Nomenclature Committee	http://www.cypalleles.ki.se/cyp1b1.htm
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CYP1B1
NIEHS-SNPs	http://egp.gs.washington.edu/data/cyp1b1/

Intellectual Property for CYP1B1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for CYP1B1 gene:
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GeneCards and IP:
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CYP1B1 Gene

cytochrome P450, family 1, subfamily B, polypeptide 1

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CYP1B1 Gene

cytochrome P450, family 1, subfamily B, polypeptide 1

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