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'''Cytochrome P450 1B1''' is an [[enzyme]] that in humans is encoded by the ''CYP1B1'' [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: cytochrome P450| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1545| accessdate = }}</ref>
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Cytochrome P450, family 1, subfamily B, polypeptide 1
| HGNCid = 2597
| Symbol = CYP1B1
| AltSymbols =; CP1B; GLC3A
| OMIM = 601771
| ECnumber = 
| Homologene = 68035
| MGIid = 88590
| GeneAtlas_image1 = PBB_GE_CYP1B1_202437_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_CYP1B1_202434_s_at_tn.png
| GeneAtlas_image3 = PBB_GE_CYP1B1_202435_s_at_tn.png
| Function = {{GNF_GO|id=GO:0004497 |text = monooxygenase activity}} {{GNF_GO|id=GO:0005506 |text = iron ion binding}} {{GNF_GO|id=GO:0019825 |text = oxygen binding}} {{GNF_GO|id=GO:0020037 |text = heme binding}} {{GNF_GO|id=GO:0046872 |text = metal ion binding}} {{GNF_GO|id=GO:0050381 |text = unspecific monooxygenase activity}}
| Component = {{GNF_GO|id=GO:0005783 |text = endoplasmic reticulum}} {{GNF_GO|id=GO:0005792 |text = microsome}} {{GNF_GO|id=GO:0016020 |text = membrane}}
| Process = {{GNF_GO|id=GO:0006118 |text = electron transport}} {{GNF_GO|id=GO:0007601 |text = visual perception}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 1545
    | Hs_Ensembl = ENSG00000138061
    | Hs_RefseqProtein = NP_000095
    | Hs_RefseqmRNA = NM_000104
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 2
    | Hs_GenLoc_start = 38148154
    | Hs_GenLoc_end = 38156796
    | Hs_Uniprot = Q16678
    | Mm_EntrezGene = 13078
    | Mm_Ensembl = ENSMUSG00000024087
    | Mm_RefseqmRNA = NM_009994
    | Mm_RefseqProtein = NP_034124
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 17
    | Mm_GenLoc_start = 79615279
    | Mm_GenLoc_end = 79623367
    | Mm_Uniprot = Q3UTK2
  }}
}}
{{SI}}


CYP1B1 belongs to 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 ([[Endoplasmic reticulum|ER]]) and metabolizes procarcinogens such as polycyclic aromatic hydrocarbons and 17beta-estradiol.


CYP1B1 belongs to the [[cytochrome P450 ]] superfamily of enzymes.
Despite over 20 years of research on [[CYP1A1]] and [[CYP1A2]], CYP1B1 was not identified and sequenced until 1994.  Nucleic and amino acid analysis showed approximately 40% identity with CYP1A1.  Despite this similarity, these two enzymes have very different catalytic efficiencies and metabolites when incubated with common substrates, such as [[retinoic acid]] and [[arachidonic acid]].  Recently CYP1B1 has been shown to be physiologically important in fetal development, since mutations in CYP1B1 are linked with a form of primary congenital glaucoma.


Despite over 20 years of research of [[CYP1A1]] and [[CYP1A2]], CYP1B1 was not identified and sequenced until 1994.  Nucleic and amino acid analysis showed approximately 40% identity with CYP1A1.  Despite this similarity, these two enzymes have very different catalytic efficiencies and metabolites when incubated with common substrates, such as retinoic acid and arachidonic acid.  Recently CYP1B1 has been shown to be physiologically important in fetal development, since mutations in CYP1B1 are linked with a form of primary congenital glaucoma.
CYP1A1 and CYP1B1 are regulated by the [[aryl hydrocarbon receptor]], a ligand activated transcription factor.  They are part of the Phase I reactions of [[drug metabolism]].


CYP1A1 and CYP1B1 are regulated by the [[Aryl hydrocarbon receptor]], a ligand activated transcription factor.  They are part of the Phase I reactions in [[drug metabolism]].
== Clinical significance ==


==External links==
Mutations in this gene have been associated with [[Glaucoma#Primary glaucoma and its variants .28H40.1-H40.2.29|primary congenital glaucoma]]; therefore it is thought that the enzyme also metabolizes a signaling molecule involved in eye development, possibly a steroid.<ref name="entrez"/>
* {{MeshName|cytochrome+P-450+CYP1B1}}
* {{MeshName|CYP1B1+protein,+human}}


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
*{{cite journal  | vauthors=Smith G, Stubbins MJ, Harries LW, Wolf CR |title=Molecular genetics of the human cytochrome P450 monooxygenase superfamily. |journal=Xenobiotica |volume=28 |issue= 12 |pages= 1129–65 |year= 1999 |pmid= 9890157 |doi=10.1080/004982598238868 }}
| citations =
*{{cite journal  | vauthors=Sasaki M, Kaneuchi M, Fujimoto S |title=CYP1B1 gene in endometrial cancer. |journal=Mol. Cell. Endocrinol. |volume=202 |issue= 1-2 |pages= 171–6 |year= 2004 |pmid= 12770747 |doi=  10.1016/S0303-7207(03)00079-0|display-authors=etal}}
*{{cite journal  | author=Smith G, Stubbins MJ, Harries LW, Wolf CR |title=Molecular genetics of the human cytochrome P450 monooxygenase superfamily. |journal=Xenobiotica |volume=28 |issue= 12 |pages= 1129-65 |year= 1999 |pmid= 9890157 |doi=  }}
*{{cite journal  | vauthors=Nelson DR, Zeldin DC, Hoffman SM |title=Comparison of cytochrome P450 (CYP) genes from the mouse and human genomes, including nomenclature recommendations for genes, pseudogenes and alternative-splice variants. |journal=Pharmacogenetics |volume=14 |issue= 1 |pages= 1–18 |year= 2004 |pmid= 15128046 |doi=10.1097/00008571-200401000-00001 |display-authors=etal}}
*{{cite journal  | author=Sasaki M, Kaneuchi M, Fujimoto S, ''et al.'' |title=CYP1B1 gene in endometrial cancer. |journal=Mol. Cell. Endocrinol. |volume=202 |issue= 1-2 |pages= 171-6 |year= 2004 |pmid= 12770747 |doi=  }}
*{{cite journal  | vauthors=Paracchini V, Raimondi S, Gram IT |title=Meta- and pooled analyses of the cytochrome P-450 1B1 Val432Leu polymorphism and breast cancer: a HuGE-GSEC review. |journal=Am. J. Epidemiol. |volume=165 |issue= 2 |pages= 115–25 |year= 2007 |pmid= 17053044 |doi= 10.1093/aje/kwj365 |display-authors=etal}}
*{{cite journal  | author=Nelson DR, Zeldin DC, Hoffman SM, ''et al.'' |title=Comparison of cytochrome P450 (CYP) genes from the mouse and human genomes, including nomenclature recommendations for genes, pseudogenes and alternative-splice variants. |journal=Pharmacogenetics |volume=14 |issue= 1 |pages= 1-18 |year= 2004 |pmid= 15128046 |doi=  }}
*{{cite journal  | vauthors=Coca-Prados M, Escribano J |title=New perspectives in aqueous humor secretion and in glaucoma: the ciliary body as a multifunctional neuroendocrine gland. |journal=Progress in retinal and eye research |volume=26 |issue= 3 |pages= 239–62 |year= 2007 |pmid= 17321191 |doi= 10.1016/j.preteyeres.2007.01.002 }}
*{{cite journal  | author=Paracchini V, Raimondi S, Gram IT, ''et al.'' |title=Meta- and pooled analyses of the cytochrome P-450 1B1 Val432Leu polymorphism and breast cancer: a HuGE-GSEC review. |journal=Am. J. Epidemiol. |volume=165 |issue= 2 |pages= 115-25 |year= 2007 |pmid= 17053044 |doi= 10.1093/aje/kwj365 }}
*{{cite journal  | vauthors=Sutter TR, Guzman K, Dold KM, Greenlee WF |title=Targets for dioxin: genes for plasminogen activator inhibitor-2 and interleukin-1 beta. |journal=Science |volume=254 |issue= 5030 |pages= 415–8 |year= 1991 |pmid= 1925598 |doi=10.1126/science.1925598 }}
*{{cite journal  | author=Coca-Prados M, Escribano J |title=New perspectives in aqueous humor secretion and in glaucoma: the ciliary body as a multifunctional neuroendocrine gland. |journal=Progress in retinal and eye research |volume=26 |issue= 3 |pages= 239-62 |year= 2007 |pmid= 17321191 |doi= 10.1016/j.preteyeres.2007.01.002 }}
*{{cite journal  | vauthors=Sutter TR, Tang YM, Hayes CL |title=Complete cDNA sequence of a human dioxin-inducible mRNA identifies a new gene subfamily of cytochrome P450 that maps to chromosome 2. |journal=J. Biol. Chem. |volume=269 |issue= 18 |pages= 13092–9 |year= 1994 |pmid= 8175734 |doi=  |display-authors=etal}}
*{{cite journal  | author=Sutter TR, Guzman K, Dold KM, Greenlee WF |title=Targets for dioxin: genes for plasminogen activator inhibitor-2 and interleukin-1 beta. |journal=Science |volume=254 |issue= 5030 |pages= 415-8 |year= 1991 |pmid= 1925598 |doi=  }}
*{{cite journal  | vauthors=Tang YM, Wo YY, Stewart J |title=Isolation and characterization of the human cytochrome P450 CYP1B1 gene. |journal=J. Biol. Chem. |volume=271 |issue= 45 |pages= 28324–30 |year= 1996 |pmid= 8910454 |doi=10.1074/jbc.271.45.28324 |display-authors=etal}}
*{{cite journal  | author=Sutter TR, Tang YM, Hayes CL, ''et al.'' |title=Complete cDNA sequence of a human dioxin-inducible mRNA identifies a new gene subfamily of cytochrome P450 that maps to chromosome 2. |journal=J. Biol. Chem. |volume=269 |issue= 18 |pages= 13092-9 |year= 1994 |pmid= 8175734 |doi=  }}
*{{cite journal  | vauthors=Stoilov I, Akarsu AN, Sarfarazi M |title=Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21. |journal=Hum. Mol. Genet. |volume=6 |issue= 4 |pages= 641–7 |year= 1997 |pmid= 9097971 |doi=10.1093/hmg/6.4.641  }}
*{{cite journal  | author=Tang YM, Wo YY, Stewart J, ''et al.'' |title=Isolation and characterization of the human cytochrome P450 CYP1B1 gene. |journal=J. Biol. Chem. |volume=271 |issue= 45 |pages= 28324-30 |year= 1996 |pmid= 8910454 |doi=  }}
*{{cite journal  | vauthors=Bejjani BA, Lewis RA, Tomey KF |title=Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia. |journal=Am. J. Hum. Genet. |volume=62 |issue= 2 |pages= 325–33 |year= 1998 |pmid= 9463332 |doi=10.1086/301725 | pmc=1376900  |display-authors=etal}}
*{{cite journal  | author=Stoilov I, Akarsu AN, Sarfarazi M |title=Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21. |journal=Hum. Mol. Genet. |volume=6 |issue= 4 |pages= 641-7 |year= 1997 |pmid= 9097971 |doi= }}
*{{cite journal  | vauthors=Stoilov I, Akarsu AN, Alozie I |title=Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1. |journal=Am. J. Hum. Genet. |volume=62 |issue= 3 |pages= 573–84 |year= 1998 |pmid= 9497261 |doi=10.1086/301764 | pmc=1376958  |display-authors=etal}}
*{{cite journal  | author=Bejjani BA, Lewis RA, Tomey KF, ''et al.'' |title=Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia. |journal=Am. J. Hum. Genet. |volume=62 |issue= 2 |pages= 325-33 |year= 1998 |pmid= 9463332 |doi=  }}
*{{cite journal  | vauthors=Bailey LR, Roodi N, Dupont WD, Parl FF |title=Association of cytochrome P450 1B1 (CYP1B1) polymorphism with steroid receptor status in breast cancer. |journal=Cancer Res. |volume=58 |issue= 22 |pages= 5038–41 |year= 1998 |pmid= 9823305 |doi=  }}
*{{cite journal  | author=Stoilov I, Akarsu AN, Alozie I, ''et al.'' |title=Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1. |journal=Am. J. Hum. Genet. |volume=62 |issue= 3 |pages= 573-84 |year= 1998 |pmid= 9497261 |doi=  }}
*{{cite journal  | vauthors=Plásilová M, Stoilov I, Sarfarazi M |title=Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma. |journal=J. Med. Genet. |volume=36 |issue= 4 |pages= 290–4 |year= 1999 |pmid= 10227395 |doi=  10.1136/jmg.36.4.290| pmc=1734351  |display-authors=etal}}
*{{cite journal  | author=Bailey LR, Roodi N, Dupont WD, Parl FF |title=Association of cytochrome P450 1B1 (CYP1B1) polymorphism with steroid receptor status in breast cancer. |journal=Cancer Res. |volume=58 |issue= 22 |pages= 5038-41 |year= 1998 |pmid= 9823305 |doi=  }}
*{{cite journal  | vauthors=Lewis DF, Lake BG, George SG |title=Molecular modelling of CYP1 family enzymes CYP1A1, CYP1A2, CYP1A6 and CYP1B1 based on sequence homology with CYP102. |journal=Toxicology |volume=139 |issue= 1-2 |pages= 53–79 |year= 2000 |pmid= 10614688 |doi=10.1016/S0300-483X(99)00098-0  |display-authors=etal}}
*{{cite journal  | author=Plásilová M, Stoilov I, Sarfarazi M, ''et al.'' |title=Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma. |journal=J. Med. Genet. |volume=36 |issue= 4 |pages= 290-4 |year= 1999 |pmid= 10227395 |doi=  }}
*{{cite journal  | vauthors=Vincent A, Billingsley G, Priston M |title=Phenotypic heterogeneity of CYP1B1: mutations in a      patient with Peters' anomaly. |journal=J. Med. Genet. |volume=38 |issue= 5 |pages= 324–6 |year= 2001 |pmid= 11403040 |doi=  10.1136/jmg.38.5.324| pmc=1734880  |display-authors=etal}}
*{{cite journal  | author=Lewis DF, Lake BG, George SG, ''et al.'' |title=Molecular modelling of CYP1 family enzymes CYP1A1, CYP1A2, CYP1A6 and CYP1B1 based on sequence homology with CYP102. |journal=Toxicology |volume=139 |issue= 1-2 |pages= 53-79 |year= 2000 |pmid= 10614688 |doi= }}
*{{cite journal  | vauthors=Bofinger DP, Feng L, Chi LH |title=Effect of TCDD exposure on CYP1A1 and CYP1B1 expression in explant cultures of human endometrium. |journal=Toxicol. Sci. |volume=62 |issue= 2 |pages= 299–314 |year= 2001 |pmid= 11452143 |doi=10.1093/toxsci/62.2.299  |display-authors=etal}}
*{{cite journal  | author=Vincent A, Billingsley G, Priston M, ''et al.'' |title=Phenotypic heterogeneity of CYP1B1: mutations in a      patient with Peters' anomaly. |journal=J. Med. Genet. |volume=38 |issue= 5 |pages= 324-6 |year= 2001 |pmid= 11403040 |doi=  }}
*{{cite journal  | vauthors=Michels-Rautenstrauss KG, Mardin CY, Zenker M |title=Primary congenital glaucoma: three case reports on novel mutations and combinations of mutations in the GLC3A (CYP1B1) gene. |journal=J. Glaucoma |volume=10 |issue= 4 |pages= 354–7 |year= 2002 |pmid= 11558822 |doi=10.1097/00061198-200108000-00017 |display-authors=etal}}
*{{cite journal  | author=Bofinger DP, Feng L, Chi LH, ''et al.'' |title=Effect of TCDD exposure on CYP1A1 and CYP1B1 expression in explant cultures of human endometrium. |journal=Toxicol. Sci. |volume=62 |issue= 2 |pages= 299-314 |year= 2001 |pmid= 11452143 |doi= }}
*{{cite journal  | vauthors=Lai J, Vesprini D, Chu W |title=CYP gene polymorphisms and early menarche. |journal=Mol. Genet. Metab. |volume=74 |issue= 4 |pages= 449–57 |year= 2002 |pmid= 11749050 |doi= 10.1006/mgme.2001.3260 |display-authors=etal}}
*{{cite journal  | author=Michels-Rautenstrauss KG, Mardin CY, Zenker M, ''et al.'' |title=Primary congenital glaucoma: three case reports on novel mutations and combinations of mutations in the GLC3A (CYP1B1) gene. |journal=J. Glaucoma |volume=10 |issue= 4 |pages= 354-7 |year= 2002 |pmid= 11558822 |doi=  }}
*{{cite journal  | vauthors=Vincent AL, Billingsley G, Buys Y |title=Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. |journal=Am. J. Hum. Genet. |volume=70 |issue= 2 |pages= 448–60 |year= 2002 |pmid= 11774072 |doi=10.1086/338709  | pmc=384919 |display-authors=etal}}
*{{cite journal  | author=Lai J, Vesprini D, Chu W, ''et al.'' |title=CYP gene polymorphisms and early menarche. |journal=Mol. Genet. Metab. |volume=74 |issue= 4 |pages= 449-57 |year= 2002 |pmid= 11749050 |doi= 10.1006/mgme.2001.3260 }}
*{{cite journal  | author=Vincent AL, Billingsley G, Buys Y, ''et al.'' |title=Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. |journal=Am. J. Hum. Genet. |volume=70 |issue= 2 |pages= 448-60 |year= 2002 |pmid= 11774072 |doi=  }}
}}
{{refend}}
{{refend}}


==External links==
* {{MeshName|cytochrome+P-450+CYP1B1}}
* {{MeshName|CYP1B1+protein,+human}}
* [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=glc  GeneReview/NCBI/NIH/UW entry on Primary Congenital Glaucoma]
* {{UCSC gene info|CYP1B1}}


{{NLM content}}
{{Cytochrome P450}}
{{Cytochrome P450}}
{{Enzymes}}
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[[Category:Cytochrome P450]]
[[Category:Cytochrome P450]]


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{{WikiDoc Sources}}
{{enzyme-stub}}

Latest revision as of 10:14, 30 August 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
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Wikidata
View/Edit Human

Cytochrome P450 1B1 is an enzyme that in humans is encoded by the CYP1B1 gene.[1]

Function

CYP1B1 belongs to 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 (ER) and metabolizes procarcinogens such as polycyclic aromatic hydrocarbons and 17beta-estradiol.

Despite over 20 years of research on CYP1A1 and CYP1A2, CYP1B1 was not identified and sequenced until 1994. Nucleic and amino acid analysis showed approximately 40% identity with CYP1A1. Despite this similarity, these two enzymes have very different catalytic efficiencies and metabolites when incubated with common substrates, such as retinoic acid and arachidonic acid. Recently CYP1B1 has been shown to be physiologically important in fetal development, since mutations in CYP1B1 are linked with a form of primary congenital glaucoma.

CYP1A1 and CYP1B1 are regulated by the aryl hydrocarbon receptor, a ligand activated transcription factor. They are part of the Phase I reactions of drug metabolism.

Clinical significance

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.[1]

References

  1. ↑ 1.0 1.1 "Entrez Gene: cytochrome P450".

Further reading

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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