CYP1B1

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Cytochrome P450, family 1, subfamily B, polypeptide 1
Identifiers
Symbols CYP1B1 ; CP1B; GLC3A
External IDs Template:OMIM5 Template:MGI HomoloGene68035
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species Human Mouse
Entrez n/a n/a
Ensembl n/a n/a
UniProt n/a n/a
RefSeq (mRNA) n/a n/a
RefSeq (protein) n/a n/a
Location (UCSC) n/a n/a
PubMed search n/a n/a

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CYP1B1 belongs to the cytochrome P450 superfamily of enzymes.

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 in drug metabolism.

External links

References

Further reading

  • Smith G, Stubbins MJ, Harries LW, Wolf CR (1999). "Molecular genetics of the human cytochrome P450 monooxygenase superfamily". Xenobiotica. 28 (12): 1129–65. PMID 9890157.
  • Sasaki M, Kaneuchi M, Fujimoto S; et al. (2004). "CYP1B1 gene in endometrial cancer". Mol. Cell. Endocrinol. 202 (1–2): 171–6. PMID 12770747.
  • Nelson DR, Zeldin DC, Hoffman SM; et al. (2004). "Comparison of cytochrome P450 (CYP) genes from the mouse and human genomes, including nomenclature recommendations for genes, pseudogenes and alternative-splice variants". Pharmacogenetics. 14 (1): 1–18. PMID 15128046.
  • Paracchini V, Raimondi S, Gram IT; et al. (2007). "Meta- and pooled analyses of the cytochrome P-450 1B1 Val432Leu polymorphism and breast cancer: a HuGE-GSEC review". Am. J. Epidemiol. 165 (2): 115–25. doi:10.1093/aje/kwj365. PMID 17053044.
  • Coca-Prados M, Escribano J (2007). "New perspectives in aqueous humor secretion and in glaucoma: the ciliary body as a multifunctional neuroendocrine gland". Progress in retinal and eye research. 26 (3): 239–62. doi:10.1016/j.preteyeres.2007.01.002. PMID 17321191.
  • Sutter TR, Guzman K, Dold KM, Greenlee WF (1991). "Targets for dioxin: genes for plasminogen activator inhibitor-2 and interleukin-1 beta". Science. 254 (5030): 415–8. PMID 1925598.
  • Sutter TR, Tang YM, Hayes CL; et al. (1994). "Complete cDNA sequence of a human dioxin-inducible mRNA identifies a new gene subfamily of cytochrome P450 that maps to chromosome 2". J. Biol. Chem. 269 (18): 13092–9. PMID 8175734.
  • Tang YM, Wo YY, Stewart J; et al. (1996). "Isolation and characterization of the human cytochrome P450 CYP1B1 gene". J. Biol. Chem. 271 (45): 28324–30. PMID 8910454.
  • Stoilov I, Akarsu AN, Sarfarazi M (1997). "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". Hum. Mol. Genet. 6 (4): 641–7. PMID 9097971.
  • Bejjani BA, Lewis RA, Tomey KF; et al. (1998). "Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia". Am. J. Hum. Genet. 62 (2): 325–33. PMID 9463332.
  • Stoilov I, Akarsu AN, Alozie I; et al. (1998). "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". Am. J. Hum. Genet. 62 (3): 573–84. PMID 9497261.
  • Bailey LR, Roodi N, Dupont WD, Parl FF (1998). "Association of cytochrome P450 1B1 (CYP1B1) polymorphism with steroid receptor status in breast cancer". Cancer Res. 58 (22): 5038–41. PMID 9823305.
  • Plásilová M, Stoilov I, Sarfarazi M; et al. (1999). "Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma". J. Med. Genet. 36 (4): 290–4. PMID 10227395.
  • Lewis DF, Lake BG, George SG; et al. (2000). "Molecular modelling of CYP1 family enzymes CYP1A1, CYP1A2, CYP1A6 and CYP1B1 based on sequence homology with CYP102". Toxicology. 139 (1–2): 53–79. PMID 10614688.
  • Vincent A, Billingsley G, Priston M; et al. (2001). "Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly". J. Med. Genet. 38 (5): 324–6. PMID 11403040.
  • Bofinger DP, Feng L, Chi LH; et al. (2001). "Effect of TCDD exposure on CYP1A1 and CYP1B1 expression in explant cultures of human endometrium". Toxicol. Sci. 62 (2): 299–314. PMID 11452143.
  • Michels-Rautenstrauss KG, Mardin CY, Zenker M; et al. (2002). "Primary congenital glaucoma: three case reports on novel mutations and combinations of mutations in the GLC3A (CYP1B1) gene". J. Glaucoma. 10 (4): 354–7. PMID 11558822.
  • Lai J, Vesprini D, Chu W; et al. (2002). "CYP gene polymorphisms and early menarche". Mol. Genet. Metab. 74 (4): 449–57. doi:10.1006/mgme.2001.3260. PMID 11749050.
  • Vincent AL, Billingsley G, Buys Y; et al. (2002). "Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene". Am. J. Hum. Genet. 70 (2): 448–60. PMID 11774072.


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