LOCUS       NM_057095               1707 bp    mRNA    linear   PRI 06-APR-2024
DEFINITION  Homo sapiens cytochrome P450 family 3 subfamily A member 43
            (CYP3A43), transcript variant 2, mRNA.
ACCESSION   NM_057095
VERSION     NM_057095.3
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 1707)
  AUTHORS   Wei,Q.Y., Lau,A.T.Y., Mo,H.Y., Zhong,Q.H., Zhao,X.Y., Yu,F.Y.,
            Han,J., Wu,Y.Y. and Xu,Y.M.
  TITLE     Effects of CYP3A43 Expression on Cell Proliferation and Migration
            of Lung Adenocarcinoma and Its Clinical Significance
  JOURNAL   Int J Mol Sci 24 (1), 113 (2022)
   PUBMED   36613552
  REMARK    GeneRIF: Effects of CYP3A43 Expression on Cell Proliferation and
            Migration of Lung Adenocarcinoma and Its Clinical Significance.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1707)
  AUTHORS   Collins,J.M. and Wang,D.
  TITLE     Cis-acting regulatory elements regulating CYP3A4 transcription in
            human liver
  JOURNAL   Pharmacogenet Genomics 30 (5), 107-116 (2020)
   PUBMED   32301865
  REMARK    GeneRIF: Cis-acting regulatory elements regulating CYP3A4
            transcription in human liver.
REFERENCE   3  (bases 1 to 1707)
  AUTHORS   Wilson,R.T., Masters,L.D., Barnholtz-Sloan,J.S., Salzberg,A.C. and
            Hartman,T.J.
  TITLE     Ancestry-Adjusted Vitamin D Metabolite Concentrations in
            Association With Cytochrome P450 3A Polymorphisms
  JOURNAL   Am J Epidemiol 187 (4), 754-766 (2018)
   PUBMED   28673024
  REMARK    GeneRIF: We investigated the association between genetic
            polymorphisms in VDR, cytochrome P450 (CYP2R1, CYP24A1, and the
            CYP3A family) with plasma concentrations of vitamin D metabolites
            (25-hydroxyvitamin D3 (25(OH)D3) and proportion
            24,25-dihydroxyvitamin D3 (24,25(OH)2D3)) among individuals of
            sub-Saharan African and European ancestry.  Only CYP3A43 and VDR
            polymorphisms were associated with proportion 24,25(OH)2D.
REFERENCE   4  (bases 1 to 1707)
  AUTHORS   Hunter,S.M., Rowley,S.M., Clouston,D., Li,J., Lupat,R.,
            Krishnananthan,N., Risbridger,G., Taylor,R., Bolton,D.,
            Campbell,I.G. and Thorne,H.
  CONSRTM   KCon Fab Investigators
  TITLE     Searching for candidate genes in familial BRCAX mutation carriers
            with prostate cancer
  JOURNAL   Urol Oncol 34 (3), 120 (2016)
   PUBMED   26585945
  REMARK    GeneRIF: Mutations in CYP3A43 gene is associated with prostate
            cancer.
REFERENCE   5  (bases 1 to 1707)
  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 1707)
  AUTHORS   Gellner,K., Eiselt,R., Hustert,E., Arnold,H., Koch,I., Haberl,M.,
            Deglmann,C.J., Burk,O., Buntefuss,D., Escher,S., Bishop,C.,
            Koebe,H.G., Brinkmann,U., Klenk,H.P., Kleine,K., Meyer,U.A. and
            Wojnowski,L.
  TITLE     Genomic organization of the human CYP3A locus: identification of a
            new, inducible CYP3A gene
  JOURNAL   Pharmacogenetics 11 (2), 111-121 (2001)
   PUBMED   11266076
REFERENCE   7  (bases 1 to 1707)
  AUTHORS   Westlind,A., Malmebo,S., Johansson,I., Otter,C., Andersson,T.B.,
            Ingelman-Sundberg,M. and Oscarson,M.
  TITLE     Cloning and tissue distribution of a novel human cytochrome p450 of
            the CYP3A subfamily, CYP3A43
  JOURNAL   Biochem Biophys Res Commun 281 (5), 1349-1355 (2001)
   PUBMED   11243885
REFERENCE   8  (bases 1 to 1707)
  AUTHORS   Domanski,T.L., Finta,C., Halpert,J.R. and Zaphiropoulos,P.G.
  TITLE     cDNA cloning and initial characterization of CYP3A43, a novel human
            cytochrome P450
  JOURNAL   Mol Pharmacol 59 (2), 386-392 (2001)
   PUBMED   11160876
REFERENCE   9  (bases 1 to 1707)
  AUTHORS   Finta,C. and Zaphiropoulos,P.G.
  TITLE     The human cytochrome P450 3A locus. Gene evolution by capture of
            downstream exons
  JOURNAL   Gene 260 (1-2), 13-23 (2000)
   PUBMED   11137287
REFERENCE   10 (bases 1 to 1707)
  AUTHORS   Smith,G., Stubbins,M.J., Harries,L.W. and Wolf,C.R.
  TITLE     Molecular genetics of the human cytochrome P450 monooxygenase
            superfamily
  JOURNAL   Xenobiotica 28 (12), 1129-1165 (1998)
   PUBMED   9890157
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF337813.1 and AF280108.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_057095.2.
            
            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.
            The encoded protein has a low level of testosterone hydroxylase
            activity, and may play a role in aging mechanisms and cancer
            progression. This gene is part of a cluster of cytochrome P450
            genes on chromosome 7q21.1. Alternate splicing results in multiple
            transcript variants encoding different isoforms. [provided by
            RefSeq, Jul 2013].
            
            Transcript Variant: This variant (2) uses an alternate splice site
            in the 3' coding region, compared to variant 1. The encoded isoform
            (2) is shorter, compared to 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 :: AF337813.1, AF319634.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2162895, SAMN03465408
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000354829.7/ ENSP00000346887.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-103               AF337813.1         1-103
            104-1615            AF280108.1         1-1512
            1616-1707           AF337813.1         1616-1707
FEATURES             Location/Qualifiers
     source          1..1707
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q22.1"
     gene            1..1707
                     /gene="CYP3A43"
                     /note="cytochrome P450 family 3 subfamily A member 43"
                     /db_xref="GeneID:64816"
                     /db_xref="HGNC:HGNC:17450"
                     /db_xref="MIM:606534"
     exon            1..174
                     /gene="CYP3A43"
                     /inference="alignment:Splign:2.1.0"
     CDS             104..1615
                     /gene="CYP3A43"
                     /EC_number="1.14.14.1"
                     /note="isoform 2 is encoded by transcript variant 2;
                     cytochrome P450, subfamily IIIA, polypeptide 43;
                     cytochrome P450 3A43; cytochrome P450, family 3, subfamily
                     A, polypeptide 43"
                     /codon_start=1
                     /product="cytochrome P450 3A43 isoform 2"
                     /protein_id="NP_476436.1"
                     /db_xref="CCDS:CCDS5676.1"
                     /db_xref="GeneID:64816"
                     /db_xref="HGNC:HGNC:17450"
                     /db_xref="MIM:606534"
                     /translation="MDLIPNFAMETWVLVATSLVLLYIYGTHSHKLFKKLGIPGPTPL
                     PFLGTILFYLRGLWNFDRECNEKYGEMWGLYEGQQPMLVIMDPDMIKTVLVKECYSVF
                     TNQMPLGPMGFLKSALSFAEDEEWKRIRTLLSPAFTSVKFKEMVPIISQCGDMLVRSL
                     RQEAENSKSINLKDFFGAYTMDVITGTLFGVNLDSLNNPQDPFLKNMKKLLKLDFLDP
                     FLLLISLFPFLTPVFEALNIGLFPKDVTHFLKNSIERMKESRLKDKQKHRVDFFQQMI
                     DSQNSKETKSHKALSDLELVAQSIIIIFAAYDTTSTTLPFIMYELATHPDVQQKLQEE
                     IDAVLPNKAPVTYDALVQMEYLDMVVNETLRLFPVVSRVTRVCKKDIEINGVFIPKGL
                     AVMVPIYALHHDPKYWTEPEKFCPERFSKKNKDSIDLYRYIPFGAGPRNCIGMRFALT
                     NIKLAVIRALQNFSFKPCKETQIPLKLDNLPILQPEKPIVLKVHLRDGITSGP"
     exon            175..268
                     /gene="CYP3A43"
                     /inference="alignment:Splign:2.1.0"
     exon            269..321
                     /gene="CYP3A43"
                     /inference="alignment:Splign:2.1.0"
     exon            322..421
                     /gene="CYP3A43"
                     /inference="alignment:Splign:2.1.0"
     exon            422..535
                     /gene="CYP3A43"
                     /inference="alignment:Splign:2.1.0"
     exon            536..624
                     /gene="CYP3A43"
                     /inference="alignment:Splign:2.1.0"
     exon            625..773
                     /gene="CYP3A43"
                     /inference="alignment:Splign:2.1.0"
     exon            774..901
                     /gene="CYP3A43"
                     /inference="alignment:Splign:2.1.0"
     exon            902..968
                     /gene="CYP3A43"
                     /inference="alignment:Splign:2.1.0"
     exon            969..1129
                     /gene="CYP3A43"
                     /inference="alignment:Splign:2.1.0"
     exon            1130..1356
                     /gene="CYP3A43"
                     /inference="alignment:Splign:2.1.0"
     exon            1357..1519
                     /gene="CYP3A43"
                     /inference="alignment:Splign:2.1.0"
     exon            1520..1707
                     /gene="CYP3A43"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1689..1694
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP3A43"
                     /note="hexamer: AATAAA"
     polyA_site      1707
                     /gene="CYP3A43"
                     /note="major polyA site"
ORIGIN      
        1 acctctgggc agagaaacaa agctctatat gcacagccca gcaaagagca gcacacagct
       61 gaaagaaaaa ctcagaagac agagctgaaa aagaaaactg gtgatggatc tcattccaaa
      121 ctttgccatg gaaacatggg ttcttgtggc taccagcctg gtactcctct atatttatgg
      181 gacccattca cataaacttt ttaagaagct gggaattcct gggccaaccc ctctgccttt
      241 tctgggaact attttgttct accttagggg tctttggaat tttgacagag aatgtaatga
      301 aaaatacgga gaaatgtggg ggctgtatga ggggcaacag cccatgctgg tcatcatgga
      361 tcccgacatg atcaaaacag tgttagtgaa agaatgttac tctgtcttca caaaccagat
      421 gcctttaggt ccaatgggat ttctgaaaag tgccttaagt tttgctgaag atgaagaatg
      481 gaagagaata cgaacattgc tatctccagc tttcaccagt gtaaaattca aggaaatggt
      541 ccccatcatt tcccaatgtg gagatatgtt ggtgagaagc ctgaggcagg aagcagagaa
      601 cagcaagtcc atcaacttga aagatttctt tggggcctac accatggatg taatcactgg
      661 cacattattt ggagtgaact tggattctct caacaatcca caagatccct ttctgaaaaa
      721 tatgaagaag cttttaaaat tggatttttt ggatcccttt ttactcttaa tatcactctt
      781 tccatttctt accccagttt ttgaagccct aaatatcggt ttgtttccaa aagatgttac
      841 ccatttttta aaaaattcca ttgaaaggat gaaagaaagt cgcctcaaag ataaacaaaa
      901 gcatcgagta gatttctttc aacagatgat cgactcccag aattccaaag aaacaaagtc
      961 ccataaagct ctgtctgatc tggagcttgt ggcccagtca attatcatca tttttgctgc
     1021 ctatgacaca actagcacca ctctcccctt cattatgtat gaactggcca ctcaccctga
     1081 tgtccagcag aaactgcagg aggagattga cgcagtttta cccaataagg cacctgtcac
     1141 ctacgatgcc ctggtacaga tggagtacct tgacatggtg gtgaatgaaa cgctcagatt
     1201 attcccagtt gttagtagag ttacgagagt ctgcaagaaa gatattgaaa tcaatggagt
     1261 gttcattccc aaagggttag cagtgatggt tccaatctat gctcttcacc atgacccaaa
     1321 gtactggaca gagcctgaga agttctgccc tgaaaggttc agtaagaaga acaaggacag
     1381 catagatctt tacagataca taccttttgg agctggaccc cgaaactgca ttggcatgag
     1441 gtttgctctc acaaacataa aacttgctgt cattagagca ctgcagaact tctccttcaa
     1501 accttgtaaa gagactcaga tcccactgaa attagacaat ctaccaattc ttcaaccaga
     1561 aaaacctatt gttctaaaag tgcacttaag agatgggatt acaagtggac cctgactttc
     1621 cctaaggact tccactttgt tcaagaaagc tgtatcccag aacactagac acttcaaatt
     1681 gttttgtgaa taaaactcag aaatgaa
//
