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CYP1B1 Gene

protein-coding GIFtS: 71

GC02M038206

cytochrome P450, family 1, subfamily B, polypeptide 1
(Previous names: cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: GLC3A)

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

Aliases
CP1B ^¹, ²
CYPIB1 ^³
EC 1.14.14.1 ^³
GLC3A ^², ⁵
P4501B1 ^²

Descriptions
aryl hydrocarbon hydroxylase ^²
cytochrome P450, family 1, subfamily B, polypeptide 1 ^²
cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile) ^¹, ²
flavoprotein-linked monooxygenase ^²
microsomal monooxygenase ^²
xenobiotic monooxygenase ^²

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

Search outside databases for aliases for CYP1B1 gene

Previous GC identifers: GC02M038259 GC02M038441 GC02M038269

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

EntrezGene 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]

UniProtKB/Swiss-Prot: CP1B1_HUMAN, Q16678

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

a participant in eye development

Gene Wiki entry for CYP1B1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the CYP1B1 gene

Entrez Gene cytogenetic band: 2p21 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)

GeneLoc gene densities for chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02M038206: (about GC identifiers)

Start:	38,148,250 bp from pter
End:	38,156,796 bp from pter
Size:	8,547 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000002.10 NT_022184.14

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: CP1B1_HUMAN, Q16678 (See protein sequence)

Recommended Name: Cytochrome P450 1B1

Size: 543 amino acids; 60846 Da

Cofactor: Heme group (By similarity)

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

membrane; Peripheral membrane protein

Secondary accessions: Q5TZW8 Q93089 Q9H316

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_000095.2

ENSEMBL proteins:

ENSP00000384972 ENSP00000260630

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (CYP1B1)
	Browse Abnova for Human Recombinant Proteins

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

4 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005783	endoplasmic reticulum	IEA	--
GO:0005789	endoplasmic reticulum membrane	IEA	--
GO:0005792	microsome	IEA	--
GO:0016020	membrane	IEA	--

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Antibodies for CYP1B1:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for CYP1B1
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (CYP1B1), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (CYP1B1)
	Novus Biologicals Antibody for CYP1B1

Assays for CYP1B1:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

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

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 MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (CYP1B1)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (CYP1B1)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000104

Applied Biosystems Silencer® siRNAs for CYP1B1

Sigma-Aldrich siRNA and siRNA Panels for CYP1B1

Sigma-Aldrich shRNA for CYP1B1

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_000104
Myc/DDK tagged cDNA clone in CMV expression vector: NM_000104
untagged cDNA clone in CMV expression vector: NM_000104

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_000104

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)

Enzyme Number (IUBMB): EC 1.14.14.1

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

3 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Cyp1b1):

homeostasis/metabolism

tumorigenesis

vision/eye

5/7 Gene Ontology (GO) molecular function terms (links to tree view) (see all 7 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004497	monooxygenase activity	TAS	9097971
GO:0005515	protein binding	IPI	17353931
GO:0009055	electron carrier activity	IEA	--
GO:0019825	oxygen binding	TAS	9097971
GO:0020037	heme binding	TAS	9097971

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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5/7 Sigma-Aldrich "Your Favorite Gene" Pathways for CYP1B1 (Your Favorite Gene powered by Ingenuity) (see all 7 )

Xenobiotic Metabolism Signaling
Fatty Acid Metabolism
Aryl Hydrocarbon Receptor Signaling
Linoleic Acid Metabolism
Metabolism of Xenobiotics by Cytochrome P450

GeneDecks CYP1B1 for the pathways selected above

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

5/65 Interacting proteins for CYP1B1 (ENSP00000260630³ Q16678¹) via UniProtKB, MINT, and/or STRING (see all 65 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SAE1	Q9UBE0¹	EBI-1055133, EBI-743154
GSTT1	ENSP00000248935³	STRING (score=.982)
AHR	ENSP00000242057³	STRING (score=.98)
ESR1	ENSP00000206249³	STRING (score=.98)
EPHX1	ENSP00000355802³	STRING (score=.975)

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5/6 Gene Ontology (GO) biological process terms (links to tree view) (see all 6 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006725	cellular aromatic compound metabolic process	IEA	--
GO:0007601	visual perception	TAS	9097971
GO:0008210	estrogen metabolic process	IEA	--
GO:0009404	toxin metabolic process	IEA	--
GO:0010033	response to organic substance	IEA	--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Enzo Life Sciences drugs & compounds for CYP1B1

Sigma-Aldrich Small Molecules for CYP1B1:

Inhibitor

Browse Tocris compounds for CYP1B1
10/47 Novoseek chemical compound relationships for CYP1B1 gene (see all 47 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
tcdd	87.03	190	9931287 (6), 9525272 (6), 11452143 (5), 10067811 (4) (see all 65)
4-methoxyestradiol	85.11	1	10403516 (1)
ethoxyresorufin	84.37	22	10862525 (1), 11714871 (1), 12818727 (1), 15486049 (1) (see all 21)
4-hydroxyestradiol	82.09	15	10862525 (1), 16893557 (1), 15901486 (1), 17575138 (1) (see all 13)
alpha-naphthoflavone	78.98	8	16893557 (1), 14962508 (1), 12624000 (1), 11858729 (1) (see all 6)
benzo(a)pyrene	78.43	81	18372000 (5), 11854143 (5), 16530937 (4), 18336843 (4) (see all 30)
dibenzo(a,l)pyrene	78.33	16	17623886 (4), 15566942 (2), 16162842 (2), 12230405 (1) (see all 7)
2-hydroxyestradiol	77.92	7	16893557 (1), 15142886 (1), 18456490 (1), 10426814 (1) (see all 7)
nmpa	72.95	1	15725615 (1)
hydrocarbons	69.68	15	15471096 (2), 12398325 (1), 15297370 (1), 15958554 (1) (see all 12)

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1 PharmGKB drug compound relationship for CYP1B1 gene

Drug compound	PharmGKB Relations	PubMed IDs for articles supporting these relationships
estrogens	CO FA GN	9823305 11854439

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (CYP1B1)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (CYP1B1)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000104

Sigma-Aldrich siRNA and siRNA Panels for CYP1B1

Sigma-Aldrich shRNA for CYP1B1

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000104

REFSEQ mRNAs for CYP1B1 gene:

NM_000104.3

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000104

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000104
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_000104
                                 untagged cDNA clone in CMV expression vector: NM_000104

Additional cDNA sequence:

AK312686.1 BC012049.1 BT019979.1 BT020001.1

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 ):

AI185319 BM695298 AW090484 AI754533 BQ020275 BX104039 AW052039 BM673435

AI090456 CB144589 CA390593 H99752 AI570794 AI659110 BE045645 CA389682

T89153 AW305164 AW134926 BQ707355 AW338428 AL157676 AI612742 CB119386

highest scoring ESTs for CYP1B1:

U03688 AA620772 AA622757 AI262192 AI373047 AI391445 AI467812 AI564143 AI924192 AI961783

Unigene Clusters for CYP1B1:

Cytochrome P450, family 1, subfamily B, polypeptide 1

Hs.154654 [show with all ESTs], Hs.715731 [show with all ESTs]

Unigene Representative Sequences: NM_000104, BC012049

GeneLoc Exon Structure

2 Ensembl transcripts including schematic representations:

ENST00000407341 ENST00000260630

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
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CYP1B1 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for CYP1B1

¹ / ² / ³

10 probe-sets matching CYP1B1 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
859_at²^{, 3}	U95-A	1	1.00	1.00	0.99	0.94	U03688	1.00	1.00	1.00	1
40071_at²^{, 3}	U95-A	1	1.00	1.00	0.99	1.07	U03688	1.00	1.00	1.00	1
202437_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_000104	0.60	1.00	0.82	1
202436_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AU144855	0.40	1.00	0.76	1
202434_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	N21019	0.60	1.00	0.82	1
202435_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AU154504	0.40	1.00	0.76	1
202437_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
202436_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
202434_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
202435_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks CYP1B1 for binary patterns associated with the probe-sets selected above

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: AATTTTAAAG

SOURCE GeneReport for Unigene clusters: Hs.154654 Hs.715731
Expression variation in blood from EXPOLDB for CYP1B1
UniProtKB/Swiss-Prot: CP1B1_HUMAN, Q16678
Tissue specificity: Expressed in many tissues

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for CYP1B1 gene from 5/7 species (see all 7 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	LOC483038¹	--	similar to cytochrome P450, family 1, subfamily B, more	87.11(n) 84.16(a)	483038 XM_540153.2 XP_540153.2
chimpanzee (Pan troglodytes)	LOC459163¹	--	similar to cytochrome P450	99.32(n) 98.53(a)	459163 XM_001167556.1 XP_001167556.1
cow (Bos taurus)	CYP1B1¹	--	cytochrome P450, family 1, subfamily B, polypeptide more	85.16(n) 82.75(a)	511470 XM_588813.3 XP_588813.1
rat (Rattus norvegicus)	Cyp1b1¹	--	cytochrome P450, family 1, subfamily b, polypeptide more	82.07(n) 80.29(a)	25426 NM_012940.1 NP_037072.1
mouse (Mus musculus)	Cyp1b1^{1, 5}	17⁵	cytochrome P450, family 1, subfamily b, polypeptide more^{1, 5}	81.77(n)¹ 81.03(a)¹	13078¹ NM_009994.1¹ NP_034124.1¹ AK017127⁵ AK041078⁵ (see all 13)

About this table Species with no ortholog for CYP1B1

ENSEMBL Gene Tree for CYP1B1

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

Paralogs for CYP1B1 gene

CYP1A2² CYP1A1²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

UniProtKB/Swiss-Prot: CP1B1_HUMAN, Q16678

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

10/171 NCBI SNPs in CYP1B1 are shown (see all 171 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 102)

AB	SNP ID	Valid	Chr 2 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs162562^1,2	A,C,F,H,O	38151019(-)	`TGAAGA/CAGTAT`	1	--	ut3¹		21	EA NS EU WA NA MN CSAM	3166
	rs162549^1,2	A,C,F,H,O	38148960(-)	`GGCTTA/TTTTAA`	1	--	ut3¹		16	MN EU EA WA NS NA CSAM	1496
	rs2855658^1,2	A,C,F,H,O	38150394(-)	`CTTGTG/ATAATA`	1	--	ut3¹ ese³		17	EA NS MN NA EU WA CSAM	2972
	rs1056836^1,2	A,C,F,H	38151707(-)	`ACCCAC/GTGAAG`	1	L/V	mis¹		28	EA MN CSAM NS NA EU WA	3970
	rs1056837^1,2	A,C,F,H	38151654(-)	`AAGGAA/C/TGGCCT`	2	D/E D/D	mis¹ syn¹		16	EA MN CSAM NS NA EU WA	2814
--	rs1056827^1,2	A,C,F,H	38155681(-)	`GGCCGG/TCCTTC`	1	A/S	mis¹ ese³		9	MN CSAM EA NS	890
	rs10916^1,2	A,C,F,H	38150674(-)	`CATGAT/GTTATC`	1	--	ut3¹		29	MN EA NA EU WA CSAM NS	2562
--	rs4986888^1,2	C,F,H	38151673(-)	`TCCAGC/GTCGAT`	1	A/G	mis¹		16	MN CSAM EA EU WA NA	1386
--	rs162558^1,2	A,C,F	38157583(+)	`CGCGCT/CCCGGC`	1	--	ng3¹		7	NS	634
	rs9341261^1,2	C,F,H	38150443(-)	`GCAGTA/CTATTA`	1	--	ut3¹		10	NS EU EA WA MN CSAM	968

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HapMap Linkage Disequilibrium images for CYP1B1 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 601771

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 choldhood, 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 [MIM:604229]. Peters anomaly is a

congenital defect of the anterior chamber of the eye

10/47 Novoseek disease relationships for CYP1B1 gene (see all 47 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
glaucoma, congenital	93.19	100	9097971 (4), 18852424 (4), 15475877 (3), 17157584 (3) (see all 57)
anomaly peters	72.37	7	16735991 (3), 15682044 (3), 16638984 (1)
rieger syndrome	62.87	3	16735994 (2), 17106362 (1)
breast cancer	61.67	120	15734954 (6), 9823305 (5), 17507616 (5), 12844487 (4) (see all 48)
glaucoma	59.09	36	11774072 (4), 15342693 (2), 17914928 (2), 15636228 (2) (see all 25)
primary open angle glaucoma	51.58	4	16862072 (1), 19096718 (1), 17361544 (1), 15733270 (1)
endometrial cancer	51.28	25	14656940 (6), 12873984 (6), 15285606 (3), 15342454 (3) (see all 9)
glaucoma open-angle	49.58	11	16319821 (2), 17563717 (2), 15342693 (1), 16862072 (1) (see all 7)
cancer	47.77	49	16120791 (3), 9230218 (3), 12869499 (2), 16547151 (2) (see all 28)
adenocarcinoma lung	40.11	4	17200336 (4)

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1 PharmGKB disease relationship for CYP1B1 gene

Disease	PharmGKB Relations	PubMed IDs for articles supporting these relationships
Breast Neoplasms	CO GN	9823305 12844487

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GeneTests: CYP1B1

Primary Congenital Glaucoma

Human Gene Mutation Database: CYP1B1
Genetic Association Database: CYP1B1
Human Genome Epidemiology Navigator: CYP1B1 (184 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

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

10/596 PubMed articles for CYP1B1 gene (see all 596 ):

Association of cytochrome P450 1B1 (CYP1B1) polymorphism with steroid receptor status in breast cancer. (PubMed id 9823305)^{1, 3, 4, 6, 7} Bailey L.R.... Parl F.F. (1998)
Cytochrome P450 1B1 gene polymorphisms and postmenopausal breast cancer risk. (PubMed id 12844487)^{1, 3, 6, 7} Rylander-Rudqvist T....Persson I. (2003)
Functional analysis of six different polymorphic CYP1B1 enzyme variants found in an Ethiopian population. (PubMed id 11854439)^{3, 4, 6, 7} Aklillu E....Ingelman-Sundberg M. (2002)
Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. (PubMed id 11774072)^{1, 3, 4, 6} Vincent A.L.... Heon E. (2002)
Mutation spectrum of the CYP1B1 gene in Indian primary congenital glaucoma patients. (PubMed id 15475877)^{1, 3, 4, 6} Reddy A.B....Chakrabarti S. (2004)
CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma. (PubMed id 15342693)^{1, 3, 4, 6} Melki R....Garchon H.J. (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, 4} Sutter T.R.... Greenlee W.F. (1994)
Primary congenital glaucoma and Rieger's anomaly: extended haplotypes reveal founder effects for eight distinct CYP1B1 mutations. (PubMed id 16735994)^{1, 3, 4} 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, 3, 6} Wen W....Zheng W. (2005)
CYP1A1 and CYP1B1 genotypes, haplotypes, and TCDD-induced gene expression in subjects from Seveso, Italy. (PubMed id 15596250)^{1, 3, 6} Landi M.T....Bell D.A. (2005)

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

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
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.genetests.org/query?gene=CYP1B1
NIEHS-SNPs	http://egp.gs.washington.edu/data/cyp1b1/

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CYP1B1 Gene

protein-coding GIFtS: 71

Aliases &
Descriptions
for CYP1B1

Summaries
for CYP1B1

Genomic Location
for CYP1B1

Proteins
for CYP1B1

Protein Domains/
Families
for CYP1B1

Gene Function
for CYP1B1

Pathways & Interactions
for CYP1B1

Drugs & Compounds
for CYP1B1

Transcripts
for CYP1B1

Expression
for CYP1B1

Orthologs
for CYP1B1

Paralogs
for CYP1B1

SNPs/Variants
for CYP1B1

Disorders & Mutations
for CYP1B1

Medical News
for CYP1B1

Publications
for CYP1B1

Search for CYP1B1

Genome Databases showing CYP1B1

Other Databases showing CYP1B1

Specialized Databases showing CYP1B1

Licensable Technologies
for CYP1B1

Services
for CYP1B1

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

CYP1B1 Gene

protein-coding GIFtS: 71

Aliases & Descriptionsfor CYP1B1

Summariesfor CYP1B1

Genomic Locationfor CYP1B1

Proteinsfor CYP1B1

Protein Domains/Familiesfor CYP1B1

Gene Functionfor CYP1B1

Pathways & Interactionsfor CYP1B1

Drugs & Compoundsfor CYP1B1

Transcriptsfor CYP1B1

Expression for CYP1B1

Orthologsfor CYP1B1

Paralogsfor CYP1B1

SNPs/Variantsfor CYP1B1

Disorders & Mutationsfor CYP1B1

Medical Newsfor CYP1B1

Publicationsfor CYP1B1

Search for CYP1B1

Genome Databases showing CYP1B1

Other Databases showing CYP1B1

Specialized Databases showing CYP1B1

Licensable Technologiesfor CYP1B1

Servicesfor CYP1B1

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for CYP1B1

Summaries
for CYP1B1

Genomic Location
for CYP1B1

Proteins
for CYP1B1

Protein Domains/
Families
for CYP1B1

Gene Function
for CYP1B1

Pathways & Interactions
for CYP1B1

Drugs & Compounds
for CYP1B1

Transcripts
for CYP1B1

Expression
for CYP1B1

Orthologs
for CYP1B1

Paralogs
for CYP1B1

SNPs/Variants
for CYP1B1

Disorders & Mutations
for CYP1B1

Medical News
for CYP1B1

Publications
for CYP1B1

Licensable Technologies
for CYP1B1

Services
for CYP1B1