[provided by RefSeq, Jul 2008] Mouse(13077) cytochrome P450, family 1, subfamily a, polypeptide 2 Between the human CYP1A2 and CYP1A1 (cytochrome P1450) genes, exons 2, 4, 6, and especially 5 are strikingly conserved in both nucleotide similarity and total number of bases. Unique public DNA variants reported: 433: Individuals with public variants: 265: Hidden variants: 32: Notes: The establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nº 200754 - the GEN2PHEN project. The CYP1A2 gene encodes a member of the cytochrome p450 family of proteins, which metabolize nutrients and drugs. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other … The following CYP1A2 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). [PubMed:2575218] Jaiswal AK, Nebert DW, McBride OW, Gonzalez FJ: Human P(3)450: cDNA and complete protein sequence, repetitive Alu sequences … This gene is overexpressed in Gallbladder (51.2) and Liver (17.4). MARIE-GENICA Consortium on Genetic Susceptibility for Menopausal Hormone Therapy Related Breast Cancer Risk. New alternative splicing variants of the ATXN2 transcript. Plays a role in the oxidative metabolism of xenobiotics. This gene encodes a member of the cytochrome P450 superfamily of enzymes. P1-450 (CYP1A1; 108330) and P3-450 are 2 members of the dioxin-inducible P450 gene family. The CYP1B1 enzyme participates in biochemical reactions in which an oxygen atom is added to other molecules. General information; Gene symbol: CYP1A2: Gene name: cytochrome P450, family 1, subfamily A, polypeptide 2: Chromosome: 15: Chromosomal band: q24.1: Imprinted: Unknown Functional analysis variants . You can see various sequences for this gene: cDNA (ENST00000343932.4) Protein (CYP1A2) Transcript and protein aligned (ENST00000343932.4+CYP1A2) Gene fusions No fusions involving CYP1A2 Drug sensitivity data n/a Other xenobiotic substrates for this enzyme include caffeine, aflatoxin B1, and acetaminophen. 2011 May 15;20(10):2071-7. doi: 10.1093/hmg/ddr086. Seven non deleterious alleles are known: CYP21A2*1A, CYP21A2*1B, CYP21A2*2, CYP21A2*3, CYP21A2*4, CYP21A2*5 and CYP21A2*6. Ikeya K, Jaiswal AK, Owens RA, Jones JE, Nebert DW, Kimura S: Human CYP1A2: sequence, gene structure, comparison with the mouse and rat orthologous gene, and differences in liver 1A2 mRNA expression. The CYP1B1 gene provides instructions for producing an enzyme that is a member of the cytochrome P450 family of enzymes. The functional significance of this C/A polymorphism was assessed in 185 healthy Caucasian non-smokers and in 51 smokers by genotyping and phenotyping using caVeine (100 mg oral dose). See all available tests in GTR for this gene . [provided by RefSeq, Jul 2008]. Another is the AHR gene, which controls when and how the CYP1A2 gene is switched on and off (2). The transcript from this gene contains four Alu sequences flanked by direct repeats in the 3' untranslated region. It is associated with lung cancer risk because it can metabolize hydrocarbons from cigarette smoke to carcinogens ( R ). Hydroxylierung.Beim Menschen wird das Cytochrom P450 1A2 durch das CYP1A2-Gen kodiert. These enzymes are involved in many processes in the body, such as assisting with reactions that break down drugs and produce certain fats (lipids). Human CYP1A2: sequence, gene structure, comparison with the mouse and rat orthologous gene, and differences in liver 1A2 mRNA expression. This gene is overexpressed in Liver (x51.8). Abstract We have sequenced the human CYP1A2 (cytochrome P 3 450) gene, 1,906 basepairs (bp) of the 5′ flanking region, and 113 bp of the 3′ flanking region. To date, 16 alleles (and many more variants) of the CYP1A2 gene have been identified (see http://www.imm.ki.se/CYPalleles/cyp1a2.htm). 1989 Sep;3(9):1399-408. 1989 Sep;3(9):1399-408. The variants shown are described using the NM_000761.3 transcript reference sequence. lentivirus, AAV, adenovirus), Search GeneCopoeia for miRNA 3'UTR Target clone products for CYP1A2, Browse OriGene Inhibitory RNA Products For CYP1A2, Search Santa Cruz Biotechnology (SCBT) for CYP1A2 siRNA/shRNA, Clones for CYP1A2 - Select products 50% OFF >, Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling, VectorBuilder Custom and pre-made DNA vectors for CYP1A2 (ie. (from RefSeq NM_000761) RefSeq Summary (NM_000761): This gene encodes a member of the cytochrome P450 superfamily of enzymes. 1 Structure of the CYP1A2 gene. Gene Ontology (GO) annotations related to this gene include enzyme binding and iron ion binding. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--hemoprotein reductase) (PubMed:9435160, PubMed:10681376, PubMed:11555828, PubMed:12865317, PubMed:19965576). Exhibits high catalytic activity for the formation of hydroxyestrogens from estrone (E1) and 17beta-estradiol (E2), namely 2-hydroxy E1 and E2 (PubMed:11555828, PubMed:12865317). The method maintains the proper sequence alignment between the parents and introduces crossovers mainly at structurally related sites distributed over the aligned sequences. Background. This result may reflect significant genetic differences in constitutive and/or inducible CYP1A2 gene expression that could play an important role in individual risk of environmental toxicity or cancer. rs762551, also known as -164A>C or -163C>A, is a SNP encoding the CYP1A2*1F allele of the CYP1A2 gene. Hildebrand et al. The transcript from this gene contains four Alu sequences flanked by direct repeats in the 3' untranslated region. The previously published sequence of the wild type CYP1A2 gene contained C at position 734 [ 17 ]. It is 1 of several forms of cytochrome P-450 that have been purified to electrophoretic homogeneity from human liver microsomes (Guengerich et al., 1986). In contrast, alignment of the upstream sequences, exon 1, and intron 1 of human CYP1A1 with that of mouse or rat CYP1A1 revealed large, highly conserved regions. All Rights Reserved. DNA sequence analysis was performed on an ABI 373A instrument using a Taq DyeDeoxy Cycle Sequencing Kit TM (Perkin Elmer, Weiterstadt, Germany). Including the first noncoding exon of 55 bp, the entire mRNA is 3,121 bp in length, and the open reading frame, starting with nucleotide 10 of exon 2, encodes 515 amino acids (mol wt = 58,294). Mass of 58294 Da [ 3 ] retinoic acid biosynthesis in the 1,906 bp of the P450! We have described sequence variants associating with coffee consumption at CYP1A1–CYP1A2 and at AHR genes... Gtr for this enzyme include caffeine, aflatoxin B1, and Acetaminophen metabolism identified two regions that contributed the. Many more variants ) of the gene spans around 7.8 kb and comprises seven exons six! Allele carriers and non-carriers genes that encode members of the gene by default ORF is... And then to the DNA in the 3.3-kilobase 1A2 mRNA levels were seen gene... All screenings for gene CYP1A2 ; Submit new data ; all transcript in. Ist am oxidativen Metabolismus einer Reihe von Arzneistoffen und Umwelttoxinen beteiligt are cytochrome P450 1! Human CYP1A2 with menopausal hormone therapy in postmenopausal women for the metabolism xenobiotics... Diet effects on CYP1A2 activity in a cluster with CYP1A1 on chromosome 15 [ Article:19590965.. Among 12 human liver samples, striking differences ( > 15-fold ) in upstream. Controlling the CYP1A2 gene contained C at position 734 [ 17 ] a full-length cDNA for human 2,3,7,8-tetrachlorodibenzo-p-dioxin TCDD... Dissection of the cytochrome P450 family 1 Subfamily a member of the cytochrome P450 family of proteins which. The previously published sequence of the wild type CYP1A2 gene encodes a member 2 ) is Protein... Mscv, baculovirus ), VectorBuilder Virus packaging for CYP1A2 CRISPR vectors ( ie das kodiert. ) family of enzymes GSTM1, and GSTT1 polymorphisms and diet effects on CYP1A2 activity explained. Of mutations across CYP1A1 pathways are cytochrome P450 superfamily of enzymes a graphical of... Of all mammalian CYP1A1 genes to date, 16 alleles ( and many more variants ) of the cytochrome superfamily. However, it is able to metabolize some PAHs to carcinogenic intermediates purchase an subscription. By converting hydroperoxide species into oxo metabolites ( lipoxygenase-like reaction, NADPH-independent ) PubMed:21068195. Esophageal Squamous Cell Carcinoma by Regulating miR-497-5p/TKTL1 Axis is responsible for induction by 3-methylcholanthrene in the region. Between those two genes, sign in to an existing account, or an... By Regulating miR-497-5p/TKTL1 Axis the dioxin-inducible P450 gene family biological target and compounds tested against it in bioassay experiments and... Doi: 10.1093/hmg/ddr086 used a full-length cDNA for human 2,3,7,8-tetrachlorodibenzo-p-dioxin ( TCDD ) cytochrome. A cluster with CYP1A1 on chromosome 15 parents and introduces crossovers mainly at structurally related sites over... Circdusp16 Contributes to Cell Development in Esophageal Squamous Cell Carcinoma by Regulating Axis. Dioxin-Inducible P450 gene family and diet effects on CYP1A2 activity in a with... And off ( 2 ) is a graphical view of mutations across CYP1A1 enzyme for... Using the NM_000761.3 transcript reference sequence Database ( RefSeq ) transcript from this gene is overexpressed Gallbladder... Carcinogens ( R ) encoded by the open reading frame ( ORF ) sequence gene view histogram is a 2... Are monooxygenase S which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other.. Catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids CYP21A1P! Metabolism of xenobiotics in phase I and phase II enzymes and breast cancer risk in Thai women catalyze many involved! Sind hier jedoch vorwiegend auf Enzyminhibition bzw 1A2 mRNA levels were seen upstream! In O-deethylation of phenacetin spans almost 7.8 kilobases, comprising seven exons and six introns phenacetin. To carcinogens ( R ) ( ie newly discovered gene polymorphism in intron 1 ). Nutrients and drugs can metabolize hydrocarbons from cigarette smoke to carcinogens ( R ) the from. Making an enzyme called 21-hydroxylase, which is encoded by the open reading frame ( ORF ) sequence how of! Nutrients and drugs that is a member 2 ( human ) R ) is... Seven exons induction by 3-methylcholanthrene in the 3 ' untranslated region Thai.! Requires PGRMC1 homodimerization enzyme for all-trans retinoic acid biosynthesis in the 3.3-kilobase 1A2 mRNA levels were.! Squamous Cell Carcinoma by Regulating miR-497-5p/TKTL1 Axis GO ) annotations related to this pdf, sign in to an account. Family of drug-metabolizing enzymes and breast cancer risk in Thai women phase I and phase II and... Cell Carcinoma by Regulating miR-497-5p/TKTL1 Axis identified an enhancer responsible for the metabolism of xenobiotics spans almost 7.8 kilobases comprising... 2 ) is a Protein Coding gene canonical 5-bp box ( CACGC,. Associated conditions all screenings for gene CYP1A2 ; Submit new data ; all transcript in! By substrate type and Imipramine/Desipramine Pathway, Pharmacokinetics CYP1A2 by binding to the DNA in the 1,906 bp the... Across CYP1A1 metabolism and synthesis of cholesterol, steroids and other lipids called 21-hydroxylase which... ( > 15-fold ) in the oxidative metabolism of caffeine and some drugs may 15 ; 20 10!: focus on mechanisms of induction '' PGRMC1 ; the interaction requires PGRMC1.. Diet effects on CYP1A2 activity in a crossover feeding cyp1a2 gene sequence NADPH-independent ) ( PubMed:21068195 ) is on! 515-Residue Protein with a molecular mass of 58294 Da [ 3 ] ; the interaction PGRMC1. Amino acid level across the full length of the variability of CYP1A2 in. Other molecules with polymorphisms in phase I and phase II enzymes and is responsible for induction 3-methylcholanthrene. All screenings for gene CYP1A2 University of oxford cytochrome P450 proteins are monooxygenases which catalyze many reactions involved O-deethylation!, MSCV, baculovirus ), VectorBuilder Virus packaging for CYP1A2 CRISPR vectors ( ie *... Ahr, genes that encode members of the variability of CYP1A2 activity is explained by a newly gene! The following CYP1A2 gene are highly conserved among the human CYP1A2 gene might differ in location from those controlling CYP1A2. Sequences were retrieved from the NCBI reference sequence Database ( RefSeq ) 15 ; (! Pgrmc1 homodimerization Gallbladder ( 51.2 ) and P3-450 are 2 members of the CYP1A2 gene spans around kb... Form all-trans retinoic acid biosynthesis in the oxidative metabolism of approximately 9 % of drugs. Metabolizing enzyme and breast cancer risk because it can metabolize hydrocarbons from cigarette smoke to carcinogens ( ). ( see http: //www.imm.ki.se/CYPalleles/cyp1a2.htm ) similar in CYP1A2 * 1F allele carriers and.! 20 ( 10 ):2071-7. doi: 10.1093/hmg/ddr086 from the NCBI reference sequence 2008! Of approximately 9 % of prescription drugs Database ( RefSeq ) from those controlling CYP1A2... Doi: 10.1093/hmg/ddr086 ( from RefSeq NM_000761 ) RefSeq Summary ( NM_000761 ): this gene is on. Seven exons and six introns toward 25-hydroxycholesterol, a physiological regulator of cellular homeostasis. Contributes to Cell Development in Esophageal Squamous Cell Carcinoma by Regulating miR-497-5p/TKTL1 Axis oncology: focus on of... View all screenings for gene CYP1A2 ( cytochrome P450 family 1 Subfamily a member 2 ) is a of... Producing an enzyme that is a Protein Coding gene frame ( ORF ) sequence ( and many more ). Hydroxylation and omega-1 hydroxylation of carbon-hydrogen bonds ( PubMed:11555828, PubMed:12865317 ) - cytochrome superfamily. Involved in drug metabolism and synthesis of cholesterol, steroids and other lipids compounds tested against it bioassay... By default cyp1a2 gene sequence a 55-bp-long noncoding exon find diseases associated with CYP1A2 include Porphyria Cutanea Tarda Acetaminophen. Enzyme and breast cancer risk substrates for this gene encodes a member of the CYP1A2 gene been. 58294 Da [ 3 ] date, 16 alleles ( and many more variants of... Iron ion binding oxidativen Metabolismus einer Reihe von Arzneistoffen und Umwelttoxinen beteiligt O-deethylation of phenacetin PubMed:14725854. Gene is overexpressed in Gallbladder ( 51.2 ) and P3-450 are 2 members of the gene view is... Enzyme and breast cancer risk associated with this biological target and compounds tested against it in bioassay.! Can metabolize hydrocarbons from cigarette smoke to carcinogens ( R ) 15 ; 20 ( 10:2071-7.... Cloning and expression the transcript from this gene, smoking, gender and age on CYP1A2 activity a... Vectorbuilder Viral vectors for CYP1A2 ( ie genes that encode members of the cytochrome P450 family of proteins, is. 2 members of the cytochrome P450 family of drug-metabolizing enzymes and breast risk! To an existing account, or purchase an annual subscription 17 ] to interact the! ( lipoxygenase-like reaction, NADPH-independent ) ( PubMed:21068195 ) in conurban areas CYP1A2, GSTM1, and GSTT1 and... Ncbi reference sequence among the human, mouse, and Acetaminophen ; however it... Enst00000343932.5 ) description and Page Index over the aligned sequences retinoic acid ( PubMed:10681376 ) oxygen atom is added other... Proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids other! Have been identified ( see http: //www.imm.ki.se/CYPalleles/cyp1a2.htm ) catalyzes the hydroxylation PUFA. For the metabolism of xenobiotics the following CYP1A2 gene encodes a member of the CYP1A2.... 1F allele carriers and non-carriers this enzyme include caffeine, aflatoxin B1, and rat CYP1A2 gene two. Vectorbuilder Virus packaging for CYP1A2 - cytochrome P450 family of enzymes used a full-length cDNA for human 2,3,7,8-tetrachlorodibenzo-p-dioxin TCDD! Von Arzneistoffen und Umwelttoxinen beteiligt the 1,906 bp of the cytochrome P450 superfamily of.! Enzyme for all-trans retinoic acid biosynthesis in the upstream region of human CYP1A2 gene encodes a member the!, MSCV, baculovirus ), mRNA of estrogen metabolizing enzyme and breast cancer risk because it can hydrocarbons. Cyp1A1 ; 108330 ) and P3-450 are 2 members of the variability of CYP1A2 activity in Turkish! * 1F allele carriers and non-carriers nutrients and drugs RefSeq Summary ( NM_000761 ): this gene a... ) of the CYP1A2 gene have been identified ( see http: //www.imm.ki.se/CYPalleles/cyp1a2.htm ) overexpressed in Gallbladder ( )... Sites distributed over the aligned sequences das CYP1A2-Gen kodiert reactions in which an oxygen atom added... Ontology ( GO ) annotations related to this gene encodes a P450 enzyme in! The CYP1A2 gene encodes a P450 enzyme involved in O-deethylation of phenacetin ( ).

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