Endometriosis Knowledgebase

Search Result

Gene id

1545

Gene Summary SNPs Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

CYP1B1 Gene UCSC Ensembl

Aliases

ASGD6, CP1B, CYPIB1, GLC3A, P4501B1

Gene name

cytochrome P450 family 1 subfamily B member 1

Alternate names

cytochrome P450 1B1, aryl hydrocarbon hydroxylase, cytochrome P450, family 1, subfamily B, polypeptide 1, cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile), flavoprotein-linked monooxygenase, microsomal monooxygenas,

Gene location

2p22.2 (38076180: 38067602) Exons: 3 NC_000002.12

Gene summary(Entrez)

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]

OMIM

601771

SNPs

rs1056827

Strand:    Allele origin:   Allele change: G/T   Mutation type: snp

CM000664.2   g.38075034C>A
NC_000002.11   g.38302177C>A
NC_000002.12   g.38075034C>A
NG_008386.2   g.6068G>T
NM_000104.3   c.355G>T
NP_000095.2   p.Ala119Ser
Clinical Significance: Benign

rs1056836

Strand:    Allele origin:   Allele change: C/G   Mutation type: snp

CM000664.2   g.38071060G>C
NC_000002.11   g.38298203C>G
NC_000002.12   g.38071060G=
NC_000002.12   g.38071060G>C
NG_008386.2   g.10042C=
NG_008386.2   g.10042C>G
NM_000104.3   c.1294C=
NM_000104.3   c.1294C>G
NP_000095.2   p.Leu432=
NP_000095.2   p.Leu432Val
Clinical Significance: drug-response

rs1056837

Strand:    Allele origin: T(germline)/C(germline)  Allele change: A/C/T   Mutation type: snp

CM000664.2   g.38071007A>G
NC_000002.11   g.38298150A>G
NC_000002.12   g.38071007A>G
NG_008386.2   g.10095T>C
NM_000104.3   c.1347T>C
NP_000095.2   p.Asp449=
Clinical Significance: Benign

rs1800440

Strand:    Allele origin: G(germline)/A(germline)  Allele change: A/C/G   Mutation type: snp

CM000664.2   g.38070996T>C
CM000664.2   g.38070996T>G
NC_000002.11   g.38298139T>C
NC_000002.12   g.38070996T>C
NC_000002.12   g.38070996T>G
NG_008386.2   g.10106A>C
NG_008386.2   g.10106A>G
NM_000104.3   c.1358A>C
NM_000104.3   c.1358A>G
NP_000095.2   p.Asn453Ser
NP_000095.2   p.Asn453Thr
Clinical Significance: Likely benign

rs4398252

Strand:    Allele origin:   Allele change: A/C/T   Mutation type: snp

CM000664.2   g.38071240T>A
CM000664.2   g.38071240T>C
NC_000002.11   g.38298383T>A
NC_000002.11   g.38298383T>C
NC_000002.12   g.38071240T>A
NC_000002.12   g.38071240T>C
NG_008386.2   g.9862A>G
NG_008386.2   g.9862A>T
NM_000104.3   c.1114A>G
NM_000104.3   c.1114A>T
NP_000095.2   p.Met372Leu
NP_000095.2   p.Met372Val
rs4986887

Strand:    Allele origin:   Allele change: C/G   Mutation type: snp

CM000664.2   g.38071033C>G
NC_000002.11   g.38298176C>G
NC_000002.12   g.38071033C>G
NG_008386.2   g.10069G>C
NM_000104.3   c.1321G>C
NP_000095.2   p.Asp441His
rs4986888

Strand:    Allele origin:   Allele change: C/G/T   Mutation type: snp

CM000664.2   g.38071026G>A
CM000664.2   g.38071026G>C
NC_000002.11   g.38298169G>C
NC_000002.12   g.38071026G>A
NC_000002.12   g.38071026G>C
NG_008386.2   g.10076C>G
NG_008386.2   g.10076C>T
NM_000104.3   c.1328C>G
NM_000104.3   c.1328C>T
NP_000095.2   p.Ala443Gly
NP_000095.2   p.Ala443Val
Clinical Significance: Benign

Protein Summary

Protein general information

Q16678

Name: Cytochrome P450 1B1 (EC 1.14.14.1) (CYPIB1)

Length: 543 Mass: 60,846

Tissue specificity: Expressed in many tissues. {ECO

Sequence

MGTSLSPNDPWPLNPLSIQQTTLLLLLSVLATVHVGQRLLRQRRRQLRSAPPGPFAWPLIGNAAAVGQAAHLSFA
RLARRYGDVFQIRLGSCPIVVLNGERAIHQALVQQGSAFADRPAFASFRVVSGGRSMAFGHYSEHWKVQRRAAHS
MMRNFFTRQPRSRQVLEGHVLSEARELVALLVRGSADGAFLDPRPLTVVAVANVMSAVCFGCRYSHDDPEFRELL
SHNEEFGRTVGAGSLVDVMPWLQYFPNPVRTVFREFEQLNRNFSNFILDKFLRHCESLRPGAAPRDMMDAFILSA
EKKAAGDSHGGGARLDLENVPATITDIFGASQDTLSTALQWLLLLFTRYPDVQTRVQAELDQVVGRDRLPCMGDQ
PNLPYVLAFLYEAMRFSSFVPVTIPHATTANTSVLGYHIPKDTVVFVNQWSVNHDPLKWPNPENFDPARFLDKDG
LINKDLTSRVMIFSVGKRRCIGEELSKMQLFLFISILAHQCDFRANPNEPAKMNFSYGLTIKPKSFKVNVTLRES
MELLDSAVQNLQAKETCQ

Structural information

Interpro:	IPR032971 IPR001128 IPR017972 IPR002401
Prosite:	PS00086
Pfam:	PF00067
PDB:	3PM0
PDBsum:	3PM0
STRING:	ENSP00000260630;

Other Databases

GeneCards: CYP1B1; Malacards: CYP1B1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001525	angiogenesis	IEA	biological_process
GO:0002930	trabecular meshwork devel opment	ISS	biological_process
GO:0004497	monooxygenase activity	IDA	molecular_function
GO:0004497	monooxygenase activity	IDA	molecular_function
GO:0004497	monooxygenase activity	TAS	molecular_function
GO:0004497	monooxygenase activity	TAS	molecular_function
GO:0004497	monooxygenase activity	TAS	molecular_function
GO:0004497	monooxygenase activity	TAS	molecular_function
GO:0004497	monooxygenase activity	TAS	molecular_function
GO:0004497	monooxygenase activity	TAS	molecular_function
GO:0005506	iron ion binding	IEA	molecular_function
GO:0005739	mitochondrion	ISS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0006725	cellular aromatic compoun d metabolic process	IEA	biological_process
GO:0006805	xenobiotic metabolic proc ess	IDA	biological_process
GO:0006809	nitric oxide biosynthetic process	ISS	biological_process
GO:0007155	cell adhesion	ISS	biological_process
GO:0007601	visual perception	TAS	biological_process
GO:0008202	steroid metabolic process	IDA	biological_process
GO:0008210	estrogen metabolic proces s	IDA	biological_process
GO:0008285	negative regulation of ce ll proliferation	ISS	biological_process
GO:0008631	intrinsic apoptotic signa ling pathway in response to oxidative stress	ISS	biological_process
GO:0009404	toxin metabolic process	IEA	biological_process
GO:0009636	response to toxic substan ce	IEA	biological_process
GO:0010575	positive regulation of va scular endothelial growth factor production	ISS	biological_process
GO:0016125	sterol metabolic process	TAS	biological_process
GO:0016712	oxidoreductase activity, acting on paired donors, with incorporation or red uction of molecular oxyge n, reduced flavin or flav oprotein as one donor, an d incorporation of one at om of oxygen	IDA	molecular_function
GO:0019369	arachidonic acid metaboli c process	IDA	biological_process
GO:0019373	epoxygenase P450 pathway	TAS	biological_process
GO:0019825	oxygen binding	TAS	molecular_function
GO:0019825	oxygen binding	TAS	molecular_function
GO:0020037	heme binding	IDA	molecular_function
GO:0020037	heme binding	TAS	molecular_function
GO:0030199	collagen fibril organizat ion	ISS	biological_process
GO:0030336	negative regulation of ce ll migration	ISS	biological_process
GO:0032088	negative regulation of NF -kappaB transcription fac tor activity	ISS	biological_process
GO:0033629	negative regulation of ce ll adhesion mediated by i ntegrin	ISS	biological_process
GO:0042572	retinol metabolic process	IDA	biological_process
GO:0042574	retinal metabolic process	IDA	biological_process
GO:0043065	positive regulation of ap optotic process	ISS	biological_process
GO:0043231	intracellular membrane-bo unded organelle	IBA	cellular_component
GO:0043542	endothelial cell migratio n	ISS	biological_process
GO:0045766	positive regulation of an giogenesis	ISS	biological_process
GO:0046427	positive regulation of JA K-STAT cascade	ISS	biological_process
GO:0046466	membrane lipid catabolic process	ISS	biological_process
GO:0048514	blood vessel morphogenesi s	ISS	biological_process
GO:0055114	oxidation-reduction proce ss	TAS	biological_process
GO:0061304	retinal blood vessel morp hogenesis	ISS	biological_process
GO:0070301	cellular response to hydr ogen peroxide	ISS	biological_process
GO:0070330	aromatase activity	IEA	molecular_function
GO:0071407	cellular response to orga nic cyclic compound	IDA	biological_process
GO:0071603	endothelial cell-cell adh esion	IEA	biological_process
GO:0097267	omega-hydroxylase P450 pa thway	TAS	biological_process
GO:2000377	regulation of reactive ox ygen species metabolic pr ocess	ISS	biological_process
GO:0001525	angiogenesis	IEA	biological_process
GO:0002930	trabecular meshwork devel opment	IEA	biological_process
GO:0002930	trabecular meshwork devel opment	ISS	biological_process
GO:0004497	monooxygenase activity	IEA	molecular_function
GO:0004497	monooxygenase activity	IEA	molecular_function
GO:0004497	monooxygenase activity	IEA	molecular_function
GO:0004497	monooxygenase activity	IDA	molecular_function
GO:0004497	monooxygenase activity	IDA	molecular_function
GO:0004497	monooxygenase activity	TAS	molecular_function
GO:0004497	monooxygenase activity	TAS	molecular_function
GO:0004497	monooxygenase activity	TAS	molecular_function
GO:0004497	monooxygenase activity	TAS	molecular_function
GO:0004497	monooxygenase activity	TAS	molecular_function
GO:0004497	monooxygenase activity	TAS	molecular_function
GO:0005506	iron ion binding	IEA	molecular_function
GO:0005739	mitochondrion	IEA	cellular_component
GO:0005739	mitochondrion	ISS	cellular_component
GO:0005739	mitochondrion	IEA	cellular_component
GO:0005739	mitochondrion	IEA	cellular_component
GO:0005783	endoplasmic reticulum	IEA	cellular_component
GO:0005789	endoplasmic reticulum mem brane	IEA	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0006725	cellular aromatic compoun d metabolic process	IEA	biological_process
GO:0006805	xenobiotic metabolic proc ess	IEA	biological_process
GO:0006805	xenobiotic metabolic proc ess	IDA	biological_process
GO:0006809	nitric oxide biosynthetic process	IEA	biological_process
GO:0006809	nitric oxide biosynthetic process	ISS	biological_process
GO:0007155	cell adhesion	IEA	biological_process
GO:0007155	cell adhesion	ISS	biological_process
GO:0007601	visual perception	TAS	biological_process
GO:0008202	steroid metabolic process	IEA	biological_process
GO:0008202	steroid metabolic process	IDA	biological_process
GO:0008210	estrogen metabolic proces s	IEA	biological_process
GO:0008210	estrogen metabolic proces s	IDA	biological_process
GO:0008285	negative regulation of ce ll proliferation	IEA	biological_process
GO:0008285	negative regulation of ce ll proliferation	ISS	biological_process
GO:0008631	intrinsic apoptotic signa ling pathway in response to oxidative stress	IEA	biological_process
GO:0008631	intrinsic apoptotic signa ling pathway in response to oxidative stress	ISS	biological_process
GO:0009404	toxin metabolic process	IEA	biological_process
GO:0009636	response to toxic substan ce	IEA	biological_process
GO:0010575	positive regulation of va scular endothelial growth factor production	IEA	biological_process
GO:0010575	positive regulation of va scular endothelial growth factor production	ISS	biological_process
GO:0016020	membrane	IEA	cellular_component
GO:0016125	sterol metabolic process	TAS	biological_process
GO:0016491	oxidoreductase activity	IEA	molecular_function
GO:0016705	oxidoreductase activity, acting on paired donors, with incorporation or red uction of molecular oxyge n	IEA	molecular_function
GO:0016712	oxidoreductase activity, acting on paired donors, with incorporation or red uction of molecular oxyge n, reduced flavin or flav oprotein as one donor, an d incorporation of one at om of oxygen	IEA	molecular_function
GO:0016712	oxidoreductase activity, acting on paired donors, with incorporation or red uction of molecular oxyge n, reduced flavin or flav oprotein as one donor, an d incorporation of one at om of oxygen	IDA	molecular_function
GO:0019369	arachidonic acid metaboli c process	IEA	biological_process
GO:0019369	arachidonic acid metaboli c process	IDA	biological_process
GO:0019373	epoxygenase P450 pathway	TAS	biological_process
GO:0019825	oxygen binding	TAS	molecular_function
GO:0019825	oxygen binding	TAS	molecular_function
GO:0020037	heme binding	IEA	molecular_function
GO:0020037	heme binding	IDA	molecular_function
GO:0020037	heme binding	TAS	molecular_function
GO:0030199	collagen fibril organizat ion	IEA	biological_process
GO:0030199	collagen fibril organizat ion	ISS	biological_process
GO:0030336	negative regulation of ce ll migration	IEA	biological_process
GO:0030336	negative regulation of ce ll migration	ISS	biological_process
GO:0031090	organelle membrane	IEA	cellular_component
GO:0032088	negative regulation of NF -kappaB transcription fac tor activity	IEA	biological_process
GO:0032088	negative regulation of NF -kappaB transcription fac tor activity	ISS	biological_process
GO:0033629	negative regulation of ce ll adhesion mediated by i ntegrin	IEA	biological_process
GO:0033629	negative regulation of ce ll adhesion mediated by i ntegrin	ISS	biological_process
GO:0042572	retinol metabolic process	IEA	biological_process
GO:0042572	retinol metabolic process	IEA	biological_process
GO:0042572	retinol metabolic process	IDA	biological_process
GO:0042574	retinal metabolic process	IEA	biological_process
GO:0042574	retinal metabolic process	IDA	biological_process
GO:0043065	positive regulation of ap optotic process	IEA	biological_process
GO:0043065	positive regulation of ap optotic process	ISS	biological_process
GO:0043231	intracellular membrane-bo unded organelle	IBA	cellular_component
GO:0043231	intracellular membrane-bo unded organelle	IEA	cellular_component
GO:0043542	endothelial cell migratio n	IEA	biological_process
GO:0043542	endothelial cell migratio n	ISS	biological_process
GO:0045766	positive regulation of an giogenesis	IEA	biological_process
GO:0045766	positive regulation of an giogenesis	ISS	biological_process
GO:0046427	positive regulation of JA K-STAT cascade	IEA	biological_process
GO:0046427	positive regulation of JA K-STAT cascade	ISS	biological_process
GO:0046466	membrane lipid catabolic process	IEA	biological_process
GO:0046466	membrane lipid catabolic process	ISS	biological_process
GO:0046872	metal ion binding	IEA	molecular_function
GO:0048514	blood vessel morphogenesi s	IEA	biological_process
GO:0048514	blood vessel morphogenesi s	ISS	biological_process
GO:0055114	oxidation-reduction proce ss	IEA	biological_process
GO:0055114	oxidation-reduction proce ss	IEA	biological_process
GO:0055114	oxidation-reduction proce ss	TAS	biological_process
GO:0061298	retina vasculature develo pment in camera-type eye	IEA	biological_process
GO:0061304	retinal blood vessel morp hogenesis	IEA	biological_process
GO:0061304	retinal blood vessel morp hogenesis	ISS	biological_process
GO:0070301	cellular response to hydr ogen peroxide	IEA	biological_process
GO:0070301	cellular response to hydr ogen peroxide	ISS	biological_process
GO:0070330	aromatase activity	IEA	molecular_function
GO:0071407	cellular response to orga nic cyclic compound	IDA	biological_process
GO:0071603	endothelial cell-cell adh esion	IEA	biological_process
GO:0097267	omega-hydroxylase P450 pa thway	TAS	biological_process
GO:2000377	regulation of reactive ox ygen species metabolic pr ocess	IEA	biological_process
GO:2000377	regulation of reactive ox ygen species metabolic pr ocess	ISS	biological_process
GO:0002930	trabecular meshwork devel opment	ISS	biological_process
GO:0004497	monooxygenase activity	IDA	molecular_function
GO:0004497	monooxygenase activity	IDA	molecular_function
GO:0004497	monooxygenase activity	TAS	molecular_function
GO:0004497	monooxygenase activity	TAS	molecular_function
GO:0004497	monooxygenase activity	TAS	molecular_function
GO:0004497	monooxygenase activity	TAS	molecular_function
GO:0004497	monooxygenase activity	TAS	molecular_function
GO:0004497	monooxygenase activity	TAS	molecular_function
GO:0005739	mitochondrion	ISS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0006805	xenobiotic metabolic proc ess	IDA	biological_process
GO:0006809	nitric oxide biosynthetic process	ISS	biological_process
GO:0007155	cell adhesion	ISS	biological_process
GO:0007601	visual perception	TAS	biological_process
GO:0008202	steroid metabolic process	IDA	biological_process
GO:0008210	estrogen metabolic proces s	IDA	biological_process
GO:0008285	negative regulation of ce ll proliferation	ISS	biological_process
GO:0008631	intrinsic apoptotic signa ling pathway in response to oxidative stress	ISS	biological_process
GO:0010575	positive regulation of va scular endothelial growth factor production	ISS	biological_process
GO:0016125	sterol metabolic process	TAS	biological_process
GO:0016712	oxidoreductase activity, acting on paired donors, with incorporation or red uction of molecular oxyge n, reduced flavin or flav oprotein as one donor, an d incorporation of one at om of oxygen	IDA	molecular_function
GO:0019369	arachidonic acid metaboli c process	IDA	biological_process
GO:0019373	epoxygenase P450 pathway	TAS	biological_process
GO:0019825	oxygen binding	TAS	molecular_function
GO:0019825	oxygen binding	TAS	molecular_function
GO:0020037	heme binding	IDA	molecular_function
GO:0020037	heme binding	TAS	molecular_function
GO:0030199	collagen fibril organizat ion	ISS	biological_process
GO:0030336	negative regulation of ce ll migration	ISS	biological_process
GO:0032088	negative regulation of NF -kappaB transcription fac tor activity	ISS	biological_process
GO:0033629	negative regulation of ce ll adhesion mediated by i ntegrin	ISS	biological_process
GO:0042572	retinol metabolic process	IDA	biological_process
GO:0042574	retinal metabolic process	IDA	biological_process
GO:0043065	positive regulation of ap optotic process	ISS	biological_process
GO:0043231	intracellular membrane-bo unded organelle	IBA	cellular_component
GO:0043542	endothelial cell migratio n	ISS	biological_process
GO:0045766	positive regulation of an giogenesis	ISS	biological_process
GO:0046427	positive regulation of JA K-STAT cascade	ISS	biological_process
GO:0046466	membrane lipid catabolic process	ISS	biological_process
GO:0048514	blood vessel morphogenesi s	ISS	biological_process
GO:0055114	oxidation-reduction proce ss	TAS	biological_process
GO:0061304	retinal blood vessel morp hogenesis	ISS	biological_process
GO:0070301	cellular response to hydr ogen peroxide	ISS	biological_process
GO:0071407	cellular response to orga nic cyclic compound	IDA	biological_process
GO:0097267	omega-hydroxylase P450 pa thway	TAS	biological_process
GO:2000377	regulation of reactive ox ygen species metabolic pr ocess	ISS	biological_process

KEGG pathways

hsa05206  MicroRNAs in cancer
hsa00140  Steroid hormone biosynthesis
hsa04913  Ovarian steroidogenesis
hsa05204  Chemical carcinogenesis
hsa00980  Metabolism of xenobiotics by cytochrome P450
hsa00380  Tryptophan metabolism

Diseases

Associated diseases	References
Anterior segment dysgenesis	OMIM: 601771, KEGG: H01159
Asthma	PMID: 19575027
Autism	PMID: 19598235
Cholestasis	PMID: 18575334
Chronic obstructive pulmonary disease (COPD)	PMID: 19625176
Endometriosis	PMID: 16260521
Glaucoma	PMID: 12372064
Hearing loss	PMID: 19898482
Human spermatogenic defect	PMID: 18980759
Hypertension	PMID: 19357154
Male infertility	PMID: 21683070
Mental development	PMID: 19860743
Oligozoospermia	PMID: 18980759
Osteoporosis	PMID: 18779756
Ovarian endometriosis	PMID: 18849443
Ovarian endometriosis	PMID: 18849443
Parkinson's disease	PMID: 17449559
Polycystic ovary syndrome (PCOS)	PMID: 22951915
Primary open angle glaucoma	KEGG: H00612
Recurrent miscarriage	PMID: 15299091
Adenomyosis	INFBASE24965973
Ovarian endometriosis	INFBASE18849443
Endometriosis	INFBASE10764452

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
19199255	Endometrio sis	P450 1B1 (CYP1B1) in exon 2 codon 119 (G-T), exon 3 codon 432 (C-G)		100 (55 cases o f endometriosis , 45 cases of n ormal controls)			Show abstract
10764452	Endometrio sis	CYP1A1, CYP1A2, CYP1B1		43 (33 eutopic endometrial tis sue samples, 10 endometriotic tissue samples)	Female infertility	CYP1A1 CYP1A2 CYP1B1	Show abstract
24965973	Endometrio sis	COMT 158G/A, CYP1B1 432C/G	Asian, Caucasi an	3827 (1770 case s, 2057 control s)		COMT CYP1B1	Show abstract
18849443	Endometrio sis (ovari an)					CYP1A1 CYP1B1 gamma-syn ER alpha ER beta BCL-2	Show abstract