LOCUS       NM_000774               1847 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens cytochrome P450 family 2 subfamily F member 1
            (CYP2F1), transcript variant 1, mRNA.
ACCESSION   NM_000774
VERSION     NM_000774.5
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 1847)
  AUTHORS   Antonenko,P., Butov,D., Kresyun,V., Antonenko,K. and Butova,T.
  TITLE     Association between effectiveness of tuberculosis treatment and
            cytochrome P-4502E1 polymorphism of the patients
  JOURNAL   Int J Mycobacteriol 6 (4), 396-400 (2017)
   PUBMED   29171455
  REMARK    GeneRIF: Polymorphism of cytochrome P-4502E1 (CYP2E1) genotype is
            an important criterion for the development of hepatotoxicity before
            and during TB treatment.
REFERENCE   2  (bases 1 to 1847)
  AUTHORS   Wei,Y., Wu,H., Li,L., Liu,Z., Zhou,X., Zhang,Q.Y., Weng,Y.,
            D'Agostino,J., Ling,G., Zhang,X., Kluetzman,K., Yao,Y. and Ding,X.
  TITLE     Generation and characterization of a CYP2A13/2B6/2F1-transgenic
            mouse model
  JOURNAL   Drug Metab Dispos 40 (6), 1144-1150 (2012)
   PUBMED   22397853
  REMARK    GeneRIF: Tissue distribution of transgenic mRNA expression agrees
            well with the known respiratory tract-selective expression of
            CYP2A13 and CYP2F1 and hepatic expression of CYP2B6 in humans.
REFERENCE   3  (bases 1 to 1847)
  AUTHORS   Akhmadishina,L.A., Korytina,G.F. and Victorova,T.V.
  TITLE     [Polymorphic markers of the CYP1B1 (4326C > G), CYP2F1
            (c.14_15insC), CYP2J2 (-76G > T), and CYP2S1 (13106C > T and 13255A
            > G) genes and genetic predisposition to chronic respiratory
            diseases induced by smoking and occupational factors]
  JOURNAL   Genetika 47 (10), 1402-1410 (2011)
   PUBMED   22232929
  REMARK    GeneRIF: Patients with occupational chronic bronchitis and healthy
            workers significantly differed from each other in the frequency
            distribution of the genotypes ofthe CYP2F1 (rs11399890, c.14_15insC
REFERENCE   4  (bases 1 to 1847)
  AUTHORS   Korytina,G.F., Akhmadishina,L.Z. and Viktorova,T.V.
  TITLE     [The CYP1B1 and CYP2F1 genes polymorphisms frequency in three
            ethnic groups of Bashkortostan and chronic obstructive pulmonary
            disease patients]
  JOURNAL   Mol Biol (Mosk) 44 (1), 33-41 (2010)
   PUBMED   20198857
  REMARK    GeneRIF: Association analysis of CYP2F1 gene insertion variant with
            chronic obstructive pulmonary disease have shown high frequency
            (87.5%) of normal allele in Tatars patients with very severe stage
            and manifestation of chronic obstructive pulmonary disease.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (bases 1 to 1847)
  AUTHORS   Saito,A., Kawamoto,M. and Kamatani,N.
  TITLE     Association study between single-nucleotide polymorphisms in 199
            drug-related genes and commonly measured quantitative traits of 752
            healthy Japanese subjects
  JOURNAL   J Hum Genet 54 (6), 317-323 (2009)
   PUBMED   19343046
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 1847)
  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   7  (bases 1 to 1847)
  AUTHORS   Hoffman,S.M., Fernandez-Salguero,P., Gonzalez,F.J. and
            Mohrenweiser,H.W.
  TITLE     Organization and evolution of the cytochrome P450 CYP2A-2B-2F
            subfamily gene cluster on human chromosome 19
  JOURNAL   J Mol Evol 41 (6), 894-900 (1995)
   PUBMED   8587134
REFERENCE   8  (bases 1 to 1847)
  AUTHORS   Trask,B., Fertitta,A., Christensen,M., Youngblom,J., Bergmann,A.,
            Copeland,A., de Jong,P., Mohrenweiser,H., Olsen,A., Carrano,A. et
            al.
  TITLE     Fluorescence in situ hybridization mapping of human chromosome 19:
            cytogenetic band location of 540 cosmids and 70 genes or DNA
            markers
  JOURNAL   Genomics 15 (1), 133-145 (1993)
   PUBMED   8432525
REFERENCE   9  (bases 1 to 1847)
  AUTHORS   Bale,A.E., Mitchell,A.L., Gonzalez,F.J. and McBride,O.W.
  TITLE     Localization of CYP2F1 by multipoint linkage analysis and
            pulsed-field gel electrophoresis
  JOURNAL   Genomics 10 (1), 284-286 (1991)
   PUBMED   2045106
REFERENCE   10 (bases 1 to 1847)
  AUTHORS   Nhamburo,P.T., Kimura,S., McBride,O.W., Kozak,C.A., Gelboin,H.V.
            and Gonzalez,F.J.
  TITLE     The human CYP2F gene subfamily: identification of a cDNA encoding a
            new cytochrome P450, cDNA-directed expression, and chromosome
            mapping
  JOURNAL   Biochemistry 29 (23), 5491-5499 (1990)
   PUBMED   1974816
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC413790.1, BC109057.1 and
            CB853363.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_000774.4.
            
            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.
            This protein localizes to the endoplasmic reticulum and is known to
            dehydrogenate 3-methylindole, an endogenous toxin derived from the
            fermentation of tryptophan, as well as xenobiotic substrates such
            as naphthalene and ethoxycoumarin. This gene 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].
            
            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 :: J02906.1, BC109057.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2144333, SAMEA2158569
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000331105.7/ ENSP00000333534.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-22                DC413790.1         1-22
            23-1313             BC109057.1         1-1291
            1314-1487           BC109057.1         1293-1466
            1488-1847           CB853363.1         17-376              c
FEATURES             Location/Qualifiers
     source          1..1847
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.2"
     gene            1..1847
                     /gene="CYP2F1"
                     /gene_synonym="C2F1; CYP2F; CYPIIF1"
                     /note="cytochrome P450 family 2 subfamily F member 1"
                     /db_xref="GeneID:1572"
                     /db_xref="HGNC:HGNC:2632"
                     /db_xref="MIM:124070"
     exon            1..61
                     /gene="CYP2F1"
                     /gene_synonym="C2F1; CYP2F; CYPIIF1"
                     /inference="alignment:Splign:2.1.0"
     exon            62..243
                     /gene="CYP2F1"
                     /gene_synonym="C2F1; CYP2F; CYPIIF1"
                     /inference="alignment:Splign:2.1.0"
     CDS             73..1548
                     /gene="CYP2F1"
                     /gene_synonym="C2F1; CYP2F; CYPIIF1"
                     /EC_number="1.14.14.1"
                     /note="microsomal monooxygenase; xenobiotic monooxygenase;
                     flavoprotein-linked monooxygenase; cytochrome P450,
                     subfamily IIF, polypeptide 1; cytochrome P450, family 2,
                     subfamily F, polypeptide 1"
                     /codon_start=1
                     /product="cytochrome P450 2F1"
                     /protein_id="NP_000765.2"
                     /db_xref="CCDS:CCDS12572.1"
                     /db_xref="GeneID:1572"
                     /db_xref="HGNC:HGNC:2632"
                     /db_xref="MIM:124070"
                     /translation="MDSISTAILLLLLALVCLLLTLSSRDKGKLPPGPRPLSILGNLL
                     LLCSQDMLTSLTKLSKEYGSMYTVHLGPRRVVVLSGYQAVKEALVDQGEEFSGRGDYP
                     AFFNFTKGNGIAFSSGDRWKVLRQFSIQILRNFGMGKRSIEERILEEGSFLLAELRKT
                     EGEPFDPTFVLSRSVSNIICSVLFGSRFDYDDERLLTIIRLINDNFQIMSSPWGELYD
                     IFPSLLDWVPGPHQRIFQNFKCLRDLIAHSVHDHQASLDPRSPRDFIQCFLTKMAEEK
                     EDPLSHFHMDTLLMTTHNLLFGGTKTVSTTLHHAFLALMKYPKVQARVQEEIDLVVGR
                     ARLPALKDRAAMPYTDAVIHEVQRFADIIPMNLPHRVTRDTAFRGFLIPKGTDVITLL
                     NTVHYDPSQFLTPQEFNPEHFLDANQSFKKSPAFMPFSAGRRLCLGESLARMELFLYL
                     TAILQSFSLQPLGAPEDIDLTPLSSGLGNLPRPFQLCLRPR"
     exon            244..406
                     /gene="CYP2F1"
                     /gene_synonym="C2F1; CYP2F; CYPIIF1"
                     /inference="alignment:Splign:2.1.0"
     exon            407..556
                     /gene="CYP2F1"
                     /gene_synonym="C2F1; CYP2F; CYPIIF1"
                     /inference="alignment:Splign:2.1.0"
     exon            557..717
                     /gene="CYP2F1"
                     /gene_synonym="C2F1; CYP2F; CYPIIF1"
                     /inference="alignment:Splign:2.1.0"
     exon            718..894
                     /gene="CYP2F1"
                     /gene_synonym="C2F1; CYP2F; CYPIIF1"
                     /inference="alignment:Splign:2.1.0"
     exon            895..1036
                     /gene="CYP2F1"
                     /gene_synonym="C2F1; CYP2F; CYPIIF1"
                     /inference="alignment:Splign:2.1.0"
     exon            1037..1224
                     /gene="CYP2F1"
                     /gene_synonym="C2F1; CYP2F; CYPIIF1"
                     /inference="alignment:Splign:2.1.0"
     exon            1225..1366
                     /gene="CYP2F1"
                     /gene_synonym="C2F1; CYP2F; CYPIIF1"
                     /inference="alignment:Splign:2.1.0"
     exon            1367..1847
                     /gene="CYP2F1"
                     /gene_synonym="C2F1; CYP2F; CYPIIF1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1821..1826
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP2F1"
                     /gene_synonym="C2F1; CYP2F; CYPIIF1"
                     /note="hexamer: AATAGA"
     polyA_site      1847
                     /gene="CYP2F1"
                     /gene_synonym="C2F1; CYP2F; CYPIIF1"
                     /note="major polyA site"
ORIGIN      
        1 aagcacaccc agagctgcag gctctagcgc atcccagcca gtgtctcctg cagctcagca
       61 gctgccttca ccatggacag cataagcaca gccatcttac tcctgctcct ggctctcgtc
      121 tgtctgctcc tgaccctaag ctcaagagat aagggaaagc tgcctccggg acccagaccc
      181 ctctcaatcc tgggaaacct gctgctgctt tgctcccaag acatgctgac ttctctcact
      241 aagctgagca aggagtatgg ctccatgtac acagtgcacc tgggacccag gcgggtggtg
      301 gtcctcagcg ggtaccaagc tgtgaaggag gccctggtgg accagggaga ggagtttagt
      361 ggccgcggtg actaccctgc ctttttcaac tttaccaagg gcaatggcat cgccttctcc
      421 agtggggatc gatggaaggt cctgagacag ttctctatcc agattctacg gaatttcggg
      481 atggggaaga gaagcattga ggagcgaatc ctagaggagg gcagcttcct gctggcggag
      541 ctgcggaaaa ctgaaggcga gccctttgac cccacgtttg tgctgagtcg ctcagtgtcc
      601 aacattatct gttccgtgct cttcggcagc cgcttcgact atgatgatga gcgtctgctc
      661 accattatcc gccttatcaa tgacaacttc caaatcatga gcagcccctg gggcgagttg
      721 tacgacatct tcccgagcct cctggactgg gtgcctgggc cgcaccaacg catcttccag
      781 aacttcaagt gcctgagaga cctcatcgcc cacagcgtcc acgaccacca ggcctcgcta
      841 gaccccagat ctccccggga cttcatccag tgcttcctca ccaagatggc agaggagaag
      901 gaggacccac tgagccactt ccacatggat accctgctga tgaccacaca taacctgctc
      961 tttggcggca ccaagacggt gagcaccacg ctgcaccacg ccttcctggc actcatgaag
     1021 tacccaaaag ttcaagcccg cgtgcaggag gagatcgacc tcgtggtggg acgcgcgcgg
     1081 ctgccggcgc tgaaggaccg cgcggccatg ccttacacag acgcggtgat ccacgaggtg
     1141 cagcgctttg cagacatcat ccccatgaac ttgccgcacc gcgtcactag ggacacggcc
     1201 tttcgcggct tcctgatacc caagggcacc gatgtcatca ccctccttaa caccgtccac
     1261 tacgacccca gccagttcct gacgccccag gagttcaacc ccgagcattt tttggatgcc
     1321 aatcagtcct tcaagaagag tccagccttc atgcccttct cagctgggcg ccgtctgtgc
     1381 ctgggagagt cgctggcgcg catggagctc tttctgtacc tcaccgccat cctgcagagc
     1441 ttttcgctgc agccgctggg tgcgcccgag gacatcgacc tgaccccact cagctcaggt
     1501 cttggcaatt tgccgcggcc tttccagctg tgcctgcgcc cgcgctaacg ccccggccct
     1561 tccagattcg cctgtgagcg atgaggcccg cccatgcggg ttgctacgtc cccttcttgg
     1621 tccacagtct gccctcatcc ctctggcagt cacgctgtct tccctgcatg ctgtgcctgc
     1681 cgcgtgccct tcccccatcc ctccaatctg tgccccgtct gcagggcaga ggcagatgtg
     1741 gcatgtcttt ttgtacccac agagcttgtt ctatggcacg cccttttcta ggctttttgt
     1801 atcatttctt agtacattgt aatagattca aaccagtctt ggctgaa
//
