LOCUS       NM_000761               3132 bp    mRNA    linear   PRI 03-APR-2024
DEFINITION  Homo sapiens cytochrome P450 family 1 subfamily A member 2
            (CYP1A2), mRNA.
ACCESSION   NM_000761
VERSION     NM_000761.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3132)
  AUTHORS   Lefevre-Arbogast,S., Helmer,C., Berr,C., Debette,S. and Samieri,C.
  TITLE     Habitual coffee consumption and risk of dementia in older persons:
            modulation by CYP1A2 polymorphism
  JOURNAL   Eur J Epidemiol 39 (1), 81-86 (2024)
   PUBMED   37906419
  REMARK    GeneRIF: Habitual coffee consumption and risk of dementia in older
            persons: modulation by CYP1A2 polymorphism.
REFERENCE   2  (bases 1 to 3132)
  AUTHORS   Dutkiewicz,Z. and Mikstacka,R.
  TITLE     Hydration and Structural Adaptations of the Human CYP1A1, CYP1A2,
            and CYP1B1 Active Sites by Molecular Dynamics Simulations
  JOURNAL   Int J Mol Sci 24 (14), 11481 (2023)
   PUBMED   37511239
  REMARK    GeneRIF: Hydration and Structural Adaptations of the Human CYP1A1,
            CYP1A2, and CYP1B1 Active Sites by Molecular Dynamics Simulations.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3132)
  AUTHORS   Aiello,J.J., Nagelkirk,P.R., Sackett,J.R., Fitzgerald,L.F.,
            Hargens,T.A., Saunders,M.J., El-Sohemy,A. and Womack,C.J.
  TITLE     The influence of the CYP1A2-163 C>A polymorphism on the hemostatic
            response to exercise following caffeine supplementation
  JOURNAL   J Sports Med Phys Fitness 63 (3), 471-477 (2023)
   PUBMED   36239290
  REMARK    GeneRIF: The influence of the CYP1A2-163 C>A polymorphism on the
            hemostatic response to exercise following caffeine supplementation.
REFERENCE   4  (bases 1 to 3132)
  AUTHORS   Mahdavi,S., Palatini,P. and El-Sohemy,A.
  TITLE     CYP1A2 Genetic Variation, Coffee Intake, and Kidney Dysfunction
  JOURNAL   JAMA Netw Open 6 (1), e2247868 (2023)
   PUBMED   36701157
  REMARK    GeneRIF: CYP1A2 Genetic Variation, Coffee Intake, and Kidney
            Dysfunction.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3132)
  AUTHORS   Jiang,Z., Dragin,N., Jorge-Nebert,L.F., Martin,M.V.,
            Guengerich,F.P., Aklillu,E., Ingelman-Sundberg,M., Hammons,G.J.,
            Lyn-Cook,B.D., Kadlubar,F.F., Saldana,S.N., Sorter,M., Vinks,A.A.,
            Nassr,N., von Richter,O., Jin,L. and Nebert,D.W.
  TITLE     Search for an association between the human CYP1A2 genotype and
            CYP1A2 metabolic phenotype
  JOURNAL   Pharmacogenet Genomics 16 (5), 359-367 (2006)
   PUBMED   16609368
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 3132)
  AUTHORS   Jiang,Z., Dalton,T.P., Jin,L., Wang,B., Tsuneoka,Y., Shertzer,H.G.,
            Deka,R. and Nebert,D.W.
  TITLE     Toward the evaluation of function in genetic variability:
            characterizing human SNP frequencies and establishing
            BAC-transgenic mice carrying the human CYP1A1_CYP1A2 locus
  JOURNAL   Hum Mutat 25 (2), 196-206 (2005)
   PUBMED   15643613
  REMARK    GeneRIF: Determination of SNP frequencies in the CYP1A1_CYP1A2
            locus.
REFERENCE   7  (bases 1 to 3132)
  AUTHORS   Nelson,D.R., Zeldin,D.C., Hoffman,S.M., Maltais,L.J., Wain,H.M. and
            Nebert,D.W.
  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 14 (1), 1-18 (2004)
   PUBMED   15128046
  REMARK    Review article
REFERENCE   8  (bases 1 to 3132)
  AUTHORS   Butler,M.A., Iwasaki,M., Guengerich,F.P. and Kadlubar,F.F.
  TITLE     Human cytochrome P-450PA (P-450IA2), the phenacetin O-deethylase,
            is primarily responsible for the hepatic 3-demethylation of
            caffeine and N-oxidation of carcinogenic arylamines
  JOURNAL   Proc Natl Acad Sci U S A 86 (20), 7696-7700 (1989)
   PUBMED   2813353
REFERENCE   9  (bases 1 to 3132)
  AUTHORS   Ikeya,K., Jaiswal,A.K., Owens,R.A., Jones,J.E., Nebert,D.W. and
            Kimura,S.
  TITLE     Human CYP1A2: sequence, gene structure, comparison with the mouse
            and rat orthologous gene, and differences in liver 1A2 mRNA
            expression
  JOURNAL   Mol Endocrinol 3 (9), 1399-1408 (1989)
   PUBMED   2575218
REFERENCE   10 (bases 1 to 3132)
  AUTHORS   Quattrochi,L.C., Okino,S.T., Pendurthi,U.R. and Tukey,R.H.
  TITLE     Cloning and isolation of human cytochrome P-450 cDNAs homologous to
            dioxin-inducible rabbit mRNAs encoding P-450 4 and P-450 6
  JOURNAL   DNA 4 (5), 395-400 (1985)
   PUBMED   3000715
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC091230.23, BC067424.1 and
            KF459683.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 9, 2018 this sequence version replaced NM_000761.4.
            
            Summary: 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 protein encoded by this gene localizes to the endoplasmic
            reticulum and its expression is induced by some polycyclic aromatic
            hydrocarbons (PAHs), some of which are found in cigarette smoke.
            The enzyme's endogenous substrate is unknown; however, it is able
            to metabolize some PAHs to carcinogenic intermediates. Other
            xenobiotic substrates for this enzyme include caffeine, aflatoxin
            B1, and acetaminophen. The transcript from this gene contains four
            Alu sequences flanked by direct repeats in the 3' untranslated
            region. [provided by RefSeq, Jul 2008].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DRR138522.1654960.1,
                                           DRR138522.284204.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145122, SAMEA2155590
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000343932.5/ ENSP00000342007.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-18                AC091230.23        125105-125122       c
            19-1609             BC067424.1         1-1591
            1610-1610           KF459683.1         184-184
            1611-1636           BC067424.1         1593-1618
            1637-3132           AC091230.23        117360-118855       c
FEATURES             Location/Qualifiers
     source          1..3132
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q24.1"
     gene            1..3132
                     /gene="CYP1A2"
                     /gene_synonym="CP12; CYPIA2; P3-450; P450(PA)"
                     /note="cytochrome P450 family 1 subfamily A member 2"
                     /db_xref="GeneID:1544"
                     /db_xref="HGNC:HGNC:2596"
                     /db_xref="MIM:124060"
     exon            1..53
                     /gene="CYP1A2"
                     /gene_synonym="CP12; CYPIA2; P3-450; P450(PA)"
                     /inference="alignment:Splign:2.1.0"
     exon            54..893
                     /gene="CYP1A2"
                     /gene_synonym="CP12; CYPIA2; P3-450; P450(PA)"
                     /inference="alignment:Splign:2.1.0"
     CDS             63..1613
                     /gene="CYP1A2"
                     /gene_synonym="CP12; CYPIA2; P3-450; P450(PA)"
                     /EC_number="1.14.14.1"
                     /EC_number="4.2.1.152"
                     /note="P450 form 4; xenobiotic monooxygenase; aryl
                     hydrocarbon hydroxylase; microsomal monooxygenase;
                     flavoprotein-linked monooxygenase; cytochrome P450,
                     subfamily I (aromatic compound-inducible), polypeptide 2;
                     dioxin-inducible P3-450; cholesterol 25-hydroxylase;
                     cytochrome P450 4; cytochrome P(3)450; cytochrome P450-P3;
                     cytochrome P450, family 1, subfamily A, polypeptide 2;
                     hydroperoxy icosatetraenoate dehydratase"
                     /codon_start=1
                     /product="cytochrome P450 1A2"
                     /protein_id="NP_000752.2"
                     /db_xref="CCDS:CCDS32293.1"
                     /db_xref="GeneID:1544"
                     /db_xref="HGNC:HGNC:2596"
                     /db_xref="MIM:124060"
                     /translation="MALSQSVPFSATELLLASAIFCLVFWVLKGLRPRVPKGLKSPPE
                     PWGWPLLGHVLTLGKNPHLALSRMSQRYGDVLQIRIGSTPVLVLSRLDTIRQALVRQG
                     DDFKGRPDLYTSTLITDGQSLTFSTDSGPVWAARRRLAQNALNTFSIASDPASSSSCY
                     LEEHVSKEAKALISRLQELMAGPGHFDPYNQVVVSVANVIGAMCFGQHFPESSDEMLS
                     LVKNTHEFVETASSGNPLDFFPILRYLPNPALQRFKAFNQRFLWFLQKTVQEHYQDFD
                     KNSVRDITGALFKHSKKGPRASGNLIPQEKIVNLVNDIFGAGFDTVTTAISWSLMYLV
                     TKPEIQRKIQKELDTVIGRERRPRLSDRPQLPYLEAFILETFRHSSFLPFTIPHSTTR
                     DTTLNGFYIPKKCCVFVNQWQVNHDPELWEDPSEFRPERFLTADGTAINKPLSEKMML
                     FGMGKRRCIGEVLAKWEIFLFLAILLQQLEFSVPPGVKVDLTPIYGLTMKHARCEHVQ
                     ARLRFSIN"
     exon            894..1014
                     /gene="CYP1A2"
                     /gene_synonym="CP12; CYPIA2; P3-450; P450(PA)"
                     /inference="alignment:Splign:2.1.0"
     exon            1015..1104
                     /gene="CYP1A2"
                     /gene_synonym="CP12; CYPIA2; P3-450; P450(PA)"
                     /inference="alignment:Splign:2.1.0"
     exon            1105..1228
                     /gene="CYP1A2"
                     /gene_synonym="CP12; CYPIA2; P3-450; P450(PA)"
                     /inference="alignment:Splign:2.1.0"
     exon            1229..1315
                     /gene="CYP1A2"
                     /gene_synonym="CP12; CYPIA2; P3-450; P450(PA)"
                     /inference="alignment:Splign:2.1.0"
     exon            1316..3132
                     /gene="CYP1A2"
                     /gene_synonym="CP12; CYPIA2; P3-450; P450(PA)"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3105..3110
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP1A2"
                     /gene_synonym="CP12; CYPIA2; P3-450; P450(PA)"
                     /note="hexamer: TATAAA"
     polyA_site      3126
                     /gene="CYP1A2"
                     /gene_synonym="CP12; CYPIA2; P3-450; P450(PA)"
                     /note="major polyA site"
ORIGIN      
        1 agctccacac cagccattac aaccctgcca atctcaagca cctgcctcta cagttggtac
       61 agatggcatt gtcccagtct gttcccttct cggccacaga gcttctcctg gcctctgcca
      121 tcttctgcct ggtattctgg gtgctcaagg gtttgaggcc tcgggtcccc aaaggcctga
      181 aaagtccacc agagccatgg ggctggccct tgctcgggca tgtgctgacc ctggggaaga
      241 acccgcacct ggcactgtca aggatgagcc agcgctacgg ggacgtcctg cagatccgca
      301 ttggctccac gcccgtgctg gtgctgagcc gcctggacac catccggcag gccctggtgc
      361 ggcagggcga cgatttcaag ggccggcctg acctctacac ctccaccctc atcactgatg
      421 gccagagctt gaccttcagc acagactctg gaccggtgtg ggctgcccgc cggcgcctgg
      481 cccagaatgc cctcaacacc ttctccatcg cctctgaccc agcttcctca tcctcctgct
      541 acctggagga gcatgtgagc aaggaggcta aggccctgat cagcaggttg caggagctga
      601 tggcagggcc tgggcacttc gacccttaca atcaggtggt ggtgtcagtg gccaacgtca
      661 ttggtgccat gtgcttcgga cagcacttcc ctgagagtag cgatgagatg ctcagcctcg
      721 tgaagaacac tcatgagttc gtggagactg cctcctccgg gaaccccctg gacttcttcc
      781 ccatccttcg ctacctgcct aaccctgccc tgcagaggtt caaggccttc aaccagaggt
      841 tcctgtggtt cctgcagaaa acagtccagg agcactatca ggactttgac aagaacagtg
      901 tccgggacat cacgggtgcc ctgttcaagc acagcaagaa ggggcctaga gccagcggca
      961 acctcatccc acaggagaag attgtcaacc ttgtcaatga catctttgga gcaggatttg
     1021 acacagtcac cacagccatc tcctggagcc tcatgtacct tgtgaccaag cctgagatac
     1081 agaggaagat ccagaaggag ctggacactg tgattggcag ggagcggcgg ccccggctct
     1141 ctgacagacc ccagctgccc tacttggagg ccttcatcct ggagaccttc cgacactcct
     1201 ccttcttgcc cttcaccatc ccccacagca caacaaggga cacaacgctg aatggcttct
     1261 acatccccaa gaaatgctgt gtcttcgtaa accagtggca ggtcaaccat gacccagagc
     1321 tgtgggagga cccctctgag ttccggcctg agcggttcct caccgccgat ggcactgcca
     1381 ttaacaagcc cttgagtgag aagatgatgc tgtttggcat gggcaagcgc cggtgtatcg
     1441 gggaagtcct ggccaagtgg gagatcttcc tcttcctggc catcctgcta cagcaactgg
     1501 agttcagcgt gccgccgggc gtgaaagtcg acctgacccc catctacggg ctgaccatga
     1561 agcacgcccg ctgtgaacat gtccaggcgc ggctgcgctt ctccatcaat tgaagaagac
     1621 accaccattc tgaggccagg gagcgagtgg gggccagcca cggggactca gcccttgttt
     1681 ctcttccttt ctttttttaa aaaatagcag ctttagccaa gtgcagggcc tgtaatccca
     1741 gcattttagg aggccaaggt tggaggatca tttgagccca ggaattggaa agcagcctgg
     1801 ccaacatagt gggaccctgt ctctacaaaa aaaaaatttg ccaagagcct gagtgacaga
     1861 gcaagacccc atctcaaaaa aaaaaacaaa caaacaaaaa aaaaaccata tatatacata
     1921 tatatatagc agctttatgg agatataatt cttatgccat ataattcacc ttcttttttt
     1981 ttttttgtct gagacagaat ctcagtctgt cacccaggtt ggagtgcagt ggcgtgatct
     2041 cagctcactg caacctccac ctcgcaggtt caagcaatcc tcccacttca gcctcccaag
     2101 cacctgggat tacaagcatg agtcactacg cctggctgat ttttgtagtt ttagtggaga
     2161 tggggtttca ccatgttggc caggcttgtc tcgaactcct gaccccaagt tatccacctg
     2221 ccttggcttc ccaaagtcct gggattacag gtgtgagcca ccacatccag cctaacttac
     2281 attcttaaag tgtcgaatga cttctagtgt agaattgtgc aaccatcacc agaattaatt
     2341 ttattattct tattattttt gagacagagt cttactctgt tgccaggctg gagtgcagtg
     2401 gcgcgatctc agctcactac aacctccgcc tcccatgttc aagcgattct cctgcctcag
     2461 cctcccgagt agctgggact ataggcatgc gccaccatgg ccagctaatt tttgtatttt
     2521 tagtagagac gaggtttcac tgtgttggcc aggatggtct ccatctcttg acctcgtgat
     2581 ccacccgcct cagcctccca aagtgctggg attaacaggt atgaaccacc gcgcccagcc
     2641 tttttgtttt tttttttttt gagacagagt cttcctctgt ctcctaagct ggagtgcagt
     2701 ggcatcatct cagctcactg caacctctgc ctcccaggtt caagtgcttc tccagcctca
     2761 gcctcccaag tagctgagac tacaggcaca caccaccacg cctggctaat ttttgtattt
     2821 ttagtagaga cgggtttcac catgttggct agactagtct caaactcctg acctcaagtg
     2881 atctgcccgc ctcgacctct ctcaaagtgc tggcattaca ggtgtgagcc acggtgcccg
     2941 gcccacaatt aattttagaa cattttcatc acccctaaaa gaaaccctgc acccattagc
     3001 agtccctcca catttccccc tagcctgcct cccctgcctc accagccctg gcaactgcta
     3061 atctactttc tgtgtctatg gatttgcctt ctctaaacat ttcatataaa tggaattaca
     3121 caatgagtgg tc
//
