LOCUS       NM_000764               1760 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens cytochrome P450 family 2 subfamily A member 7
            (CYP2A7), transcript variant 1, mRNA.
ACCESSION   NM_000764
VERSION     NM_000764.3
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 1760)
  AUTHORS   Lutz,S.M., Frederiksen,B., Begum,F., McDonald,M.N., Cho,M.H.,
            Hobbs,B.D., Parker,M.M., DeMeo,D.L., Hersh,C.P., Ehringer,M.A.,
            Young,K., Jiang,L., Foreman,M.G., Kinney,G.L., Make,B.J.,
            Lomas,D.A., Bakke,P., Gulsvik,A., Crapo,J.D., Silverman,E.K.,
            Beaty,T.H. and Hokanson,J.E.
  CONSRTM   ECLIPSE and COPDGene Investigators
  TITLE     Common and Rare Variants Genetic Association Analysis of Cigarettes
            per Day Among Ever-Smokers in Chronic Obstructive Pulmonary Disease
            Cases and Controls
  JOURNAL   Nicotine Tob Res 21 (6), 714-722 (2019)
   PUBMED   29767774
  REMARK    GeneRIF: Single nucleotide polymorphism in CYP2A7 gene is
            associated with smoking in whites with Chronic Obstructive
            Pulmonary Disease.
REFERENCE   2  (bases 1 to 1760)
  AUTHORS   Walker,L.C., Marquart,L., Pearson,J.F., Wiggins,G.A., O'Mara,T.A.,
            Parsons,M.T., Barrowdale,D., McGuffog,L., Dennis,J., Benitez,J.,
            Slavin,T.P., Radice,P., Frost,D., Godwin,A.K., Meindl,A.,
            Schmutzler,R.K., Isaacs,C., Peshkin,B.N., Caldes,T.,
            Hogervorst,F.B., Lazaro,C., Jakubowska,A., Montagna,M., Chen,X.,
            Offit,K., Hulick,P.J., Andrulis,I.L., Lindblom,A., Nussbaum,R.L.,
            Nathanson,K.L., Chenevix-Trench,G., Antoniou,A.C., Couch,F.J. and
            Spurdle,A.B.
  CONSRTM   BCFR; EMBRACE; GEMO Study Collaborators; HEBON; KConFab
            Investigators
  TITLE     Evaluation of copy-number variants as modifiers of breast and
            ovarian cancer risk for BRCA1 pathogenic variant carriers
  JOURNAL   Eur J Hum Genet 25 (4), 432-438 (2017)
   PUBMED   28145423
  REMARK    GeneRIF: CNV deletion at the CYP2A7 is associated with decreased
            ovarian cancer risk in BRCA1 carriers.
            Erratum:[Eur J Hum Genet. 2019 Jan;27(1):167-168. doi:
            10.1038/s41431-018-0216-1.. PMID: 30135485]
REFERENCE   3  (bases 1 to 1760)
  AUTHORS   Nakano,M., Fukushima,Y., Yokota,S., Fukami,T., Takamiya,M.,
            Aoki,Y., Yokoi,T. and Nakajima,M.
  TITLE     CYP2A7 pseudogene transcript affects CYP2A6 expression in human
            liver by acting as a decoy for miR-126
  JOURNAL   Drug Metab Dispos 43 (5), 703-712 (2015)
   PUBMED   25710939
  REMARK    GeneRIF: CYP2A7 affects CYP2A6 expression by competing for miR-126*
            binding.
REFERENCE   4  (bases 1 to 1760)
  AUTHORS   Chiang,H.C., Wang,C.K. and Tsou,T.C.
  TITLE     Differential distribution of CYP2A6 and CYP2A13 in the human
            respiratory tract
  JOURNAL   Respiration 84 (4), 319-326 (2012)
   PUBMED   22890016
REFERENCE   5  (bases 1 to 1760)
  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   6  (bases 1 to 1760)
  AUTHORS   Koskela,S., Hakkola,J., Hukkanen,J., Pelkonen,O., Sorri,M.,
            Saranen,A., Anttila,S., Fernandez-Salguero,P., Gonzalez,F. and
            Raunio,H.
  TITLE     Expression of CYP2A genes in human liver and extrahepatic tissues
  JOURNAL   Biochem Pharmacol 57 (12), 1407-1413 (1999)
   PUBMED   10353262
REFERENCE   7  (bases 1 to 1760)
  AUTHORS   Fernandez-Salguero,P., Hoffman,S.M., Cholerton,S., Mohrenweiser,H.,
            Raunio,H., Rautio,A., Pelkonen,O., Huang,J.D., Evans,W.E.,
            Idle,J.R. et al.
  TITLE     A genetic polymorphism in coumarin 7-hydroxylation: sequence of the
            human CYP2A genes and identification of variant CYP2A6 alleles
  JOURNAL   Am J Hum Genet 57 (3), 651-660 (1995)
   PUBMED   7668294
REFERENCE   8  (bases 1 to 1760)
  AUTHORS   Ding,S., Lake,B.G., Friedberg,T. and Wolf,C.R.
  TITLE     Expression and alternative splicing of the cytochrome P-450 CYP2A7
  JOURNAL   Biochem J 306 (Pt 1) (Pt 1), 161-166 (1995)
   PUBMED   7864805
REFERENCE   9  (bases 1 to 1760)
  AUTHORS   Hakkola,J., Pasanen,M., Purkunen,R., Saarikoski,S., Pelkonen,O.,
            Maenpaa,J., Rane,A. and Raunio,H.
  TITLE     Expression of xenobiotic-metabolizing cytochrome P450 forms in
            human adult and fetal liver
  JOURNAL   Biochem Pharmacol 48 (1), 59-64 (1994)
   PUBMED   8043031
REFERENCE   10 (bases 1 to 1760)
  AUTHORS   Yamano,S., Tatsuno,J. and Gonzalez,F.J.
  TITLE     The CYP2A3 gene product catalyzes coumarin 7-hydroxylation in human
            liver microsomes
  JOURNAL   Biochemistry 29 (5), 1322-1329 (1990)
   PUBMED   2322567
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC008537.5.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 11, 2020 this sequence version replaced NM_000764.2.
            
            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.
            This protein localizes to the endoplasmic reticulum; its substrate
            has not yet been determined. This gene, which produces two
            transcript variants, is part of a large cluster of cytochrome P450
            genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome
            19q. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            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 :: U22029.1, M33317.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000301146.9/ ENSP00000301146.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-201               AC008537.5         105110-105310       c
            202-364             AC008537.5         104668-104830       c
            365-514             AC008537.5         103558-103707       c
            515-675             AC008537.5         103163-103323       c
            676-852             AC008537.5         101839-102015       c
            853-994             AC008537.5         100931-101072       c
            995-1182            AC008537.5         100269-100456       c
            1183-1324           AC008537.5         99606-99747         c
            1325-1760           AC008537.5         98518-98953         c
FEATURES             Location/Qualifiers
     source          1..1760
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.2"
     gene            1..1760
                     /gene="CYP2A7"
                     /gene_synonym="CPA7; CPAD; CYP2A; CYPIIA7; P450-IIA4"
                     /note="cytochrome P450 family 2 subfamily A member 7"
                     /db_xref="GeneID:1549"
                     /db_xref="HGNC:HGNC:2611"
                     /db_xref="MIM:608054"
     exon            1..201
                     /gene="CYP2A7"
                     /gene_synonym="CPA7; CPAD; CYP2A; CYPIIA7; P450-IIA4"
                     /inference="alignment:Splign:2.1.0"
     CDS             22..1506
                     /gene="CYP2A7"
                     /gene_synonym="CPA7; CPAD; CYP2A; CYPIIA7; P450-IIA4"
                     /EC_number="1.14.14.1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     cytochrome P450, subfamily IIA (phenobarbital-inducible),
                     polypeptide 7; cytochrome P450 2A7; cytochrome P450IIA4;
                     cytochrome P450 IIA4; cytochrome P450, family 2, subfamily
                     A, polypeptide 7"
                     /codon_start=1
                     /product="cytochrome P450 2A7 isoform 1"
                     /protein_id="NP_000755.2"
                     /db_xref="CCDS:CCDS12569.1"
                     /db_xref="GeneID:1549"
                     /db_xref="HGNC:HGNC:2611"
                     /db_xref="MIM:608054"
                     /translation="MLASGLLLVALLACLTVMVLMSVWQQRKSRGKLPPGPTPLPFIG
                     NYLQLNTEHICDSIMKFSECYGPVFTIHLGPRRVVVLCGHDAVREALVDQAEEFSGRG
                     EQATFDWVFKGYGVAFSNGERAKQLLRFAIATLRDFGVGKRGIEERIQEESGFLIEAI
                     RSTHGANIDPTFFLSRTVSNVISSIVFGDRFDYEDKEFLSLLSMMLGIFQFTSTSTGQ
                     LYEMFSSVMKHLPGPQQQAFKLLQGLEDFIAKKVEHNQRTLDPNSPQDFIDSFLIHMQ
                     EEEKNPNTEFYLKNLMMSTLNLFIAGTETVSTTLRYGFLLLMKHPEVEAKVHEEIDRV
                     IGKNRQPKFEDRTKMPYMEAVIHEIQRFGDVIPMSLARRVKKDTKFRDFFLPKGTEVF
                     PMLGSVLRDPSFFSNPQDFNPQHFLDDKGQFKKSDAFVPFSIGKRNCFGEGLARMELF
                     LFFTTVMQNFRLKSSQSPKDIDVSPKHVVFATIPRNYTMSFLPR"
     exon            202..364
                     /gene="CYP2A7"
                     /gene_synonym="CPA7; CPAD; CYP2A; CYPIIA7; P450-IIA4"
                     /inference="alignment:Splign:2.1.0"
     exon            365..514
                     /gene="CYP2A7"
                     /gene_synonym="CPA7; CPAD; CYP2A; CYPIIA7; P450-IIA4"
                     /inference="alignment:Splign:2.1.0"
     exon            515..675
                     /gene="CYP2A7"
                     /gene_synonym="CPA7; CPAD; CYP2A; CYPIIA7; P450-IIA4"
                     /inference="alignment:Splign:2.1.0"
     exon            676..852
                     /gene="CYP2A7"
                     /gene_synonym="CPA7; CPAD; CYP2A; CYPIIA7; P450-IIA4"
                     /inference="alignment:Splign:2.1.0"
     exon            853..994
                     /gene="CYP2A7"
                     /gene_synonym="CPA7; CPAD; CYP2A; CYPIIA7; P450-IIA4"
                     /inference="alignment:Splign:2.1.0"
     exon            995..1182
                     /gene="CYP2A7"
                     /gene_synonym="CPA7; CPAD; CYP2A; CYPIIA7; P450-IIA4"
                     /inference="alignment:Splign:2.1.0"
     exon            1183..1324
                     /gene="CYP2A7"
                     /gene_synonym="CPA7; CPAD; CYP2A; CYPIIA7; P450-IIA4"
                     /inference="alignment:Splign:2.1.0"
     exon            1325..1760
                     /gene="CYP2A7"
                     /gene_synonym="CPA7; CPAD; CYP2A; CYPIIA7; P450-IIA4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1736..1741
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP2A7"
                     /gene_synonym="CPA7; CPAD; CYP2A; CYPIIA7; P450-IIA4"
                     /note="hexamer: AATAAT"
     polyA_site      1760
                     /gene="CYP2A7"
                     /gene_synonym="CPA7; CPAD; CYP2A; CYPIIA7; P450-IIA4"
                     /note="major polyA site"
ORIGIN      
        1 atctgtcatc tcactaccac catgctggcc tcagggctgc ttctggtggc cttgctggcc
       61 tgcctgactg tgatggtctt gatgtctgtc tggcagcaga ggaagagcag ggggaagctg
      121 cctccgggac ccaccccact gcccttcatt ggaaactacc tccagctgaa cacagagcac
      181 atatgtgact ccatcatgaa gttcagtgag tgctatggcc ccgtgttcac cattcacttg
      241 gggccccggc gggtcgtggt gctgtgtgga catgatgccg tcagggaggc tctggtggac
      301 caggctgagg agttcagcgg gcgaggcgag caagccacct tcgactgggt cttcaaaggc
      361 tatggcgtgg cgttcagcaa cggggagcgc gccaagcagc tcctgcgctt tgccatcgcc
      421 accctgaggg acttcggggt gggcaagcga ggcatcgagg agcgcatcca ggaggagtcg
      481 ggcttcctca tcgaggccat ccggagcacg cacggcgcca atatcgatcc caccttcttc
      541 ctgagccgca cagtctccaa tgtcatcagc tccattgtct ttggggaccg ctttgactat
      601 gaggacaaag agttcctgtc actgctgagc atgatgctag gaatcttcca gttcacgtca
      661 acctccacgg ggcagctcta tgagatgttc tcttcggtga tgaaacacct gccaggacca
      721 cagcaacagg cctttaagtt gctgcaaggg ctggaggact tcatagccaa gaaggtggag
      781 cacaaccagc gcacgctgga tcccaattcc ccacaggact tcatcgactc ctttctcatc
      841 cacatgcagg aggaggagaa gaaccccaac acggagttct acttgaagaa cctgatgatg
      901 agcacgttga acctcttcat tgcaggcacc gagacggtca gcaccaccct gcgctatggc
      961 ttcttgctgc tcatgaagca cccagaggtg gaggccaagg tccatgagga gattgacaga
     1021 gtgatcggca agaaccggca gcccaagttt gaggaccgga ccaagatgcc ctacatggag
     1081 gcagtgatcc acgagatcca aagatttgga gacgtgatcc ccatgagttt ggcccgcagg
     1141 gttaaaaagg acaccaagtt tcgggatttt ttcctcccta agggcaccga agtgttccct
     1201 atgctgggct ccgtgctgag agaccccagc ttcttctcca accctcagga cttcaatccc
     1261 cagcatttcc tggatgacaa ggggcagttt aagaagagtg atgcttttgt gcccttttcc
     1321 atcggaaagc ggaactgttt cggagaaggc ctggccagaa tggagctctt tctcttcttc
     1381 accaccgtca tgcagaactt ccgcctcaag tcctcccagt cacctaagga cattgacgtg
     1441 tcccccaaac acgtggtctt tgccacgatc ccacgaaact acaccatgag cttcctgccc
     1501 cgctgagcga gggctgtgcc ggtgcaggtc tggtgggcgg ggccagggaa aggcggggtc
     1561 agggcggggt tcgcggaaga ggcgggtata agaatggggg gaagatgcgg gaaaggaagg
     1621 ggcgtggtgg ctagagggaa gagaagaaac agaagcggct cagttcacct tgataaggtg
     1681 cttccgagct gggatgagag gaagggaaac cttacattat gctatgaaga gtagtaataa
     1741 tagcagctct tatttcctga
//
