LOCUS       NM_000078               1691 bp    mRNA    linear   PRI 17-SEP-2024
DEFINITION  Homo sapiens cholesteryl ester transfer protein (CETP), transcript
            variant 1, mRNA.
ACCESSION   NM_000078
VERSION     NM_000078.3
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 1691)
  AUTHORS   Al Ashkar,H., Kovacs,N., Veres-Balajti,I., Adany,R. and Piko,P.
  TITLE     Association of CETP Gene Polymorphisms and Haplotypes with Acute
            Heart Rate Response to Exercise
  JOURNAL   Int J Mol Sci 25 (16), 8587 (2024)
   PUBMED   39201274
  REMARK    GeneRIF: Association of CETP Gene Polymorphisms and Haplotypes with
            Acute Heart Rate Response to Exercise.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1691)
  AUTHORS   Cruz,N.R.C., Valente,T.N.S., Ferreira,F.O., Macedo,L.R.,
            Belisario,A.R., Silva,C.M.D., Oliveira,N.S., Gomides,A.F.F. and
            Velloso-Rodrigues,C.
  TITLE     CETP gene polymorphisms and haplotypes are explanatory variables
            for HDL cholesterol level in sickle cell disease
  JOURNAL   Braz J Med Biol Res 57, e12879 (2024)
   PUBMED   38265339
  REMARK    GeneRIF: CETP gene polymorphisms and haplotypes are explanatory
            variables for HDL cholesterol level in sickle cell disease.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1691)
  AUTHORS   AhmadiVasmehjani,A., SeyedHosseini,S., Khayyatzadeh,S.,
            Madadizadeh,F., Mazaheri-Naeini,M., Yavari,M., Darabi,Z.,
            Beigrezaei,S., Taftian,M., Arabi,V., Motallaei,M.,
            Salehi-Abargouei,A. and Nadjarzadeh,A.
  TITLE     Interaction between CETP Taq1B polymorphism and dietary patterns on
            lipid profile and severity of coronary arteries stenosis in
            patients under coronary angiography: a cross-sectional study
  JOURNAL   Nutr J 22 (1), 70 (2023)
   PUBMED   38098040
  REMARK    GeneRIF: Interaction between CETP Taq1B polymorphism and dietary
            patterns on lipid profile and severity of coronary arteries
            stenosis in patients under coronary angiography: a cross-sectional
            study.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1691)
  AUTHORS   Kim,M., Lee,S., Cho,E., Hong,K.W., You,S.J. and Choi,H.J.
  TITLE     CETP and APOA2 polymorphisms are associated with weight loss and
            healthy eating behavior changes in response to digital lifestyle
            modifications
  JOURNAL   Sci Rep 13 (1), 21615 (2023)
   PUBMED   38062157
  REMARK    GeneRIF: CETP and APOA2 polymorphisms are associated with weight
            loss and healthy eating behavior changes in response to digital
            lifestyle modifications.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1691)
  AUTHORS   Leite,J.M.R.S., Pereira,J.L., Damasceno,N.R.T., Soler,J.M.P.,
            Fisberg,R.M., Rogero,M.M. and Sarti,F.M.
  TITLE     Association of dyslipidemia with single nucleotide polymorphisms of
            the cholesteryl ester transfer protein gene and cardiovascular
            disease risk factors in a highly admixed population
  JOURNAL   Clin Nutr ESPEN 58, 242-252 (2023)
   PUBMED   38057013
  REMARK    GeneRIF: Association of dyslipidemia with single nucleotide
            polymorphisms of the cholesteryl ester transfer protein gene and
            cardiovascular disease risk factors in a highly admixed population.
REFERENCE   6  (bases 1 to 1691)
  AUTHORS   Jiang,X.C., Moulin,P., Quinet,E., Goldberg,I.J., Yacoub,L.K.,
            Agellon,L.B., Compton,D., Schnitzer-Polokoff,R. and Tall,A.R.
  TITLE     Mammalian adipose tissue and muscle are major sources of lipid
            transfer protein mRNA
  JOURNAL   J Biol Chem 266 (7), 4631-4639 (1991)
   PUBMED   1999438
REFERENCE   7  (bases 1 to 1691)
  AUTHORS   Inazu,A., Brown,M.L., Hesler,C.B., Agellon,L.B., Koizumi,J.,
            Takata,K., Maruhama,Y., Mabuchi,H. and Tall,A.R.
  TITLE     Increased high-density lipoprotein levels caused by a common
            cholesteryl-ester transfer protein gene mutation
  JOURNAL   N Engl J Med 323 (18), 1234-1238 (1990)
   PUBMED   2215607
REFERENCE   8  (bases 1 to 1691)
  AUTHORS   Yamashita,S., Hui,D.Y., Sprecher,D.L., Matsuzawa,Y., Sakai,N.,
            Tarui,S., Kaplan,D., Wetterau,J.R. and Harmony,J.A.
  TITLE     Total deficiency of plasma cholesteryl ester transfer protein in
            subjects homozygous and heterozygous for the intron 14 splicing
            defect
  JOURNAL   Biochem Biophys Res Commun 170 (3), 1346-1351 (1990)
   PUBMED   2390095
REFERENCE   9  (bases 1 to 1691)
  AUTHORS   Agellon,L.B., Quinet,E.M., Gillette,T.G., Drayna,D.T., Brown,M.L.
            and Tall,A.R.
  TITLE     Organization of the human cholesteryl ester transfer protein gene
  JOURNAL   Biochemistry 29 (6), 1372-1376 (1990)
   PUBMED   2334701
REFERENCE   10 (bases 1 to 1691)
  AUTHORS   Brown,M.L., Inazu,A., Hesler,C.B., Agellon,L.B., Mann,C.,
            Whitlock,M.E., Marcel,Y.L., Milne,R.W., Koizumi,J., Mabuchi,H. et
            al.
  TITLE     Molecular basis of lipid transfer protein deficiency in a family
            with increased high-density lipoproteins
  JOURNAL   Nature 342 (6248), 448-451 (1989)
   PUBMED   2586614
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from M30185.1, AA999853.1 and
            AC023825.8.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_000078.2.
            
            Summary: The protein encoded by this gene is found in plasma, where
            it is involved in the transfer of cholesteryl ester from high
            density lipoprotein (HDL) to other lipoproteins. Defects in this
            gene are a cause of hyperalphalipoproteinemia 1 (HALP1). Two
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Oct 2013].
            
            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 :: SRR5189652.198594.1,
                                           SRR5189664.89365.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000200676.8/ ENSP00000200676.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1293              M30185.1           101-1393
            1294-1690           AA999853.1         1-397               c
            1691-1691           AC023825.8         195365-195365       c
FEATURES             Location/Qualifiers
     source          1..1691
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q13"
     gene            1..1691
                     /gene="CETP"
                     /gene_synonym="BPIFF; HDLCQ10"
                     /note="cholesteryl ester transfer protein"
                     /db_xref="GeneID:1071"
                     /db_xref="HGNC:HGNC:1869"
                     /db_xref="MIM:118470"
     exon            1..148
                     /gene="CETP"
                     /gene_synonym="BPIFF; HDLCQ10"
                     /inference="alignment:Splign:2.1.0"
     CDS             31..1512
                     /gene="CETP"
                     /gene_synonym="BPIFF; HDLCQ10"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; lipid transfer protein I; BPI fold containing
                     family F; cholesteryl ester transfer protein plasma"
                     /codon_start=1
                     /product="cholesteryl ester transfer protein isoform 1
                     precursor"
                     /protein_id="NP_000069.2"
                     /db_xref="CCDS:CCDS10772.1"
                     /db_xref="GeneID:1071"
                     /db_xref="HGNC:HGNC:1869"
                     /db_xref="MIM:118470"
                     /translation="MLAATVLTLALLGNAHACSKGTSHEAGIVCRITKPALLVLNHET
                     AKVIQTAFQRASYPDITGEKAMMLLGQVKYGLHNIQISHLSIASSQVELVEAKSIDVS
                     IQNVSVVFKGTLKYGYTTAWWLGIDQSIDFEIDSAIDLQINTQLTCDSGRVRTDAPDC
                     YLSFHKLLLHLQGEREPGWIKQLFTNFISFTLKLVLKGQICKEINVISNIMADFVQTR
                     AASILSDGDIGVDISLTGDPVITASYLESHHKGHFIYKNVSEDLPLPTFSPTLLGDSR
                     MLYFWFSERVFHSLAKVAFQDGRLMLSLMGDEFKAVLETWGFNTNQEIFQEVVGGFPS
                     QAQVTVHCLKMPKISCQNKGVVVNSSVMVKFLFPRPDQQHSVAYTFEEDIVTTVQASY
                     SKKKLFLSLLDFQITPKTVSNLTESSSESVQSFLQSMITAVGIPEVMSRLEVVFTALM
                     NSKGVSLFDIINPEIITRDGFLLLQMDFGFPEHLLVDFLQSLS"
     exon            149..263
                     /gene="CETP"
                     /gene_synonym="BPIFF; HDLCQ10"
                     /inference="alignment:Splign:2.1.0"
     exon            264..398
                     /gene="CETP"
                     /gene_synonym="BPIFF; HDLCQ10"
                     /inference="alignment:Splign:2.1.0"
     exon            399..469
                     /gene="CETP"
                     /gene_synonym="BPIFF; HDLCQ10"
                     /inference="alignment:Splign:2.1.0"
     exon            470..557
                     /gene="CETP"
                     /gene_synonym="BPIFF; HDLCQ10"
                     /inference="alignment:Splign:2.1.0"
     exon            558..627
                     /gene="CETP"
                     /gene_synonym="BPIFF; HDLCQ10"
                     /inference="alignment:Splign:2.1.0"
     exon            628..688
                     /gene="CETP"
                     /gene_synonym="BPIFF; HDLCQ10"
                     /inference="alignment:Splign:2.1.0"
     exon            689..780
                     /gene="CETP"
                     /gene_synonym="BPIFF; HDLCQ10"
                     /inference="alignment:Splign:2.1.0"
     exon            781..960
                     /gene="CETP"
                     /gene_synonym="BPIFF; HDLCQ10"
                     /inference="alignment:Splign:2.1.0"
     exon            961..1011
                     /gene="CETP"
                     /gene_synonym="BPIFF; HDLCQ10"
                     /inference="alignment:Splign:2.1.0"
     exon            1012..1176
                     /gene="CETP"
                     /gene_synonym="BPIFF; HDLCQ10"
                     /inference="alignment:Splign:2.1.0"
     exon            1177..1244
                     /gene="CETP"
                     /gene_synonym="BPIFF; HDLCQ10"
                     /inference="alignment:Splign:2.1.0"
     exon            1245..1278
                     /gene="CETP"
                     /gene_synonym="BPIFF; HDLCQ10"
                     /inference="alignment:Splign:2.1.0"
     exon            1279..1351
                     /gene="CETP"
                     /gene_synonym="BPIFF; HDLCQ10"
                     /inference="alignment:Splign:2.1.0"
     exon            1352..1437
                     /gene="CETP"
                     /gene_synonym="BPIFF; HDLCQ10"
                     /inference="alignment:Splign:2.1.0"
     exon            1438..1691
                     /gene="CETP"
                     /gene_synonym="BPIFF; HDLCQ10"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1671..1676
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CETP"
                     /gene_synonym="BPIFF; HDLCQ10"
                     /note="hexamer: ATTAAA"
     polyA_site      1691
                     /gene="CETP"
                     /gene_synonym="BPIFF; HDLCQ10"
                     /note="major polyA site"
ORIGIN      
        1 gggccactta cacaccactg cctgataacc atgctggctg ccacagtcct gaccctggcc
       61 ctgctgggca atgcccatgc ctgctccaaa ggcacctcgc acgaggcagg catcgtgtgc
      121 cgcatcacca agcctgccct cctggtgttg aaccacgaga ctgccaaggt gatccagacc
      181 gccttccagc gagccagcta cccagatatc acgggcgaga aggccatgat gctccttggc
      241 caagtcaagt atgggttgca caacatccag atcagccact tgtccatcgc cagcagccag
      301 gtggagctgg tggaagccaa gtccattgat gtctccattc agaacgtgtc tgtggtcttc
      361 aaggggaccc tgaagtatgg ctacaccact gcctggtggc tgggtattga tcagtccatt
      421 gacttcgaga tcgactctgc cattgacctc cagatcaaca cacagctgac ctgtgactct
      481 ggtagagtgc ggaccgatgc ccctgactgc tacctgtctt tccataagct gctcctgcat
      541 ctccaagggg agcgagagcc tgggtggatc aagcagctgt tcacaaattt catctccttc
      601 accctgaagc tggtcctgaa gggacagatc tgcaaagaga tcaacgtcat ctctaacatc
      661 atggccgatt ttgtccagac aagggctgcc agcatccttt cagatggaga cattggggtg
      721 gacatttccc tgacaggtga tcccgtcatc acagcctcct acctggagtc ccatcacaag
      781 ggtcatttca tctacaagaa tgtctcagag gacctccccc tccccacctt ctcgcccaca
      841 ctgctggggg actcccgcat gctgtacttc tggttctctg agcgagtctt ccactcgctg
      901 gccaaggtag ctttccagga tggccgcctc atgctcagcc tgatgggaga cgagttcaag
      961 gcagtgctgg agacctgggg cttcaacacc aaccaggaaa tcttccaaga ggttgtcggc
     1021 ggcttcccca gccaggccca agtcaccgtc cactgcctca agatgcccaa gatctcctgc
     1081 caaaacaagg gagtcgtggt caattcttca gtgatggtga aattcctctt tccacgccca
     1141 gaccagcaac attctgtagc ttacacattt gaagaggata tcgtgactac cgtccaggcc
     1201 tcctattcta agaaaaagct cttcttaagc ctcttggatt tccagattac accaaagact
     1261 gtttccaact tgactgagag cagctccgag tccgtccaga gcttcctgca gtcaatgatc
     1321 accgctgtgg gcatccctga ggtcatgtct cggctcgagg tagtgtttac agccctcatg
     1381 aacagcaaag gcgtgagcct cttcgacatc atcaaccctg agattatcac tcgagatggc
     1441 ttcctgctgc tgcagatgga ctttggcttc cctgagcacc tgctggtgga tttcctccag
     1501 agcttgagct agaagtctcc aaggaggtcg ggatggggct tgtagcagaa ggcaagcacc
     1561 aggctcacag ctggaaccct ggtgtctcct ccagcgtggt ggaagttggg ttaggagtac
     1621 ggagatggag attggctccc aactcctccc tatcctaaag gcccactggc attaaagtgc
     1681 tgtatccaag a
//
