LOCUS       NM_017548               3351 bp    mRNA    linear   PRI 06-APR-2024
DEFINITION  Homo sapiens CDV3 homolog (CDV3), transcript variant 2, mRNA.
ACCESSION   NM_017548 XM_941579 XM_945271 XM_945274 XM_945277 XM_945281
            XM_945284 XM_945286 XM_945287
VERSION     NM_017548.5
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 3351)
  AUTHORS   Wade,T.D., Gordon,S., Medland,S., Bulik,C.M., Heath,A.C.,
            Montgomery,G.W. and Martin,N.G.
  TITLE     Genetic variants associated with disordered eating
  JOURNAL   Int J Eat Disord 46 (6), 594-608 (2013)
   PUBMED   23568457
REFERENCE   2  (bases 1 to 3351)
  AUTHORS   Abuli,A., Fernandez-Rozadilla,C., Giraldez,M.D., Munoz,J.,
            Gonzalo,V., Bessa,X., Bujanda,L., Rene,J.M., Lanas,A., Garcia,A.M.,
            Salo,J., Arguello,L., Vilella,A., Carreno,R., Jover,R.,
            Xicola,R.M., Llor,X., Carvajal-Carmona,L., Tomlinson,I.P.,
            Kerr,D.J., Houlston,R.S., Pique,J.M., Carracedo,A., Castells,A.,
            Andreu,M., Ruiz-Ponte,C. and Castellvi-Bel,S.
  CONSRTM   Gastrointestinal Oncology Group of the Spanish Gastroenterological
            Association
  TITLE     A two-phase case-control study for colorectal cancer genetic
            susceptibility: candidate genes from chromosomal regions 9q22 and
            3q22
  JOURNAL   Br J Cancer 105 (6), 870-875 (2011)
   PUBMED   21811255
REFERENCE   3  (bases 1 to 3351)
  AUTHORS   Fukumaru,S., Horiuchi,M., Kobayashi,K., Jalil,M.A., Iijima,M.,
            Masuda,M., Begum,L., Higashi,M., Wakana,S., Kanzaki,T. and
            Saheki,T.
  TITLE     Novel mRNA molecules are induced in hypertrophied ventricles of
            carnitine-deficient mice and belong to a family of up-regulated
            gene in cells overexpressing c-erbB-2
  JOURNAL   Biochim Biophys Acta 1577 (3), 437-444 (2002)
   PUBMED   12359334
  REMARK    GeneRIF: Differential mRNA display shows increased levels of CDV3
            in mice with cardiac hypertrophy.
REFERENCE   4  (bases 1 to 3351)
  AUTHORS   Oh,J.J., Grosshans,D.R., Wong,S.G. and Slamon,D.J.
  TITLE     Identification of differentially expressed genes associated with
            HER-2/neu overexpression in human breast cancer cells
  JOURNAL   Nucleic Acids Res 27 (20), 4008-4017 (1999)
   PUBMED   10497265
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BM798790.1, AF103803.1, BP336445.1, AK096865.1 and BM676291.1.
            
            On Jun 2, 2019 this sequence version replaced NM_017548.4.
            
            Transcript Variant: This variant (2) uses an alternate splice site
            in the 3'-terminal exon, compared to variant 1. The encoded isoform
            (b) has a longer and distinct C-terminus, compared to isoform a.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF103803.1, DRR138524.231215.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000264993.8/ ENSP00000264993.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-44                BM798790.1         89-132
            45-1736             AF103803.1         9-1700
            1737-1836           BP336445.1         484-583
            1837-3350           AK096865.1         2109-3622
            3351-3351           BM676291.1         30-30               c
FEATURES             Location/Qualifiers
     source          1..3351
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q22.1"
     gene            1..3351
                     /gene="CDV3"
                     /gene_synonym="H41"
                     /note="CDV3 homolog"
                     /db_xref="GeneID:55573"
                     /db_xref="HGNC:HGNC:26928"
                     /db_xref="MIM:618789"
     exon            1..599
                     /gene="CDV3"
                     /gene_synonym="H41"
                     /inference="alignment:Splign:2.1.0"
     CDS             360..1136
                     /gene="CDV3"
                     /gene_synonym="H41"
                     /note="isoform b is encoded by transcript variant 2;
                     carnitine deficiency-associated gene expressed in
                     ventricle 3; protein CDV3 homolog"
                     /codon_start=1
                     /product="protein CDV3 homolog isoform b"
                     /protein_id="NP_060018.1"
                     /db_xref="CCDS:CCDS3079.1"
                     /db_xref="GeneID:55573"
                     /db_xref="HGNC:HGNC:26928"
                     /db_xref="MIM:618789"
                     /translation="MAETEERSLDNFFAKRDKKKKKERSNRAASAAGAAGSAGGSSGA
                     AGAAGGGAGAGTRPGDGGTASAGAAGPGAATKAVTKDEDEWKELEQKEVDYSGLRVQA
                     MQISSEKEEDDNEKRQDPGDNWEEGGGGGGGMEKSSGPWNKTAPVQAPPAPVIVTETP
                     EPAMTSGVYRPPGARLTTTRKTPQGPPEIYSDTQFPSLQSTAKHVESRKDKEMEKSFE
                     VVRHKNRGRDEVSKNQALKLQLDNQYAVLENQKSSHSQYN"
     exon            600..676
                     /gene="CDV3"
                     /gene_synonym="H41"
                     /inference="alignment:Splign:2.1.0"
     exon            677..825
                     /gene="CDV3"
                     /gene_synonym="H41"
                     /inference="alignment:Splign:2.1.0"
     exon            826..985
                     /gene="CDV3"
                     /gene_synonym="H41"
                     /inference="alignment:Splign:2.1.0"
     exon            986..3351
                     /gene="CDV3"
                     /gene_synonym="H41"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3331..3336
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CDV3"
                     /gene_synonym="H41"
                     /note="hexamer: AATAAA"
     polyA_site      3351
                     /gene="CDV3"
                     /gene_synonym="H41"
                     /note="major polyA site"
ORIGIN      
        1 ctccggcacg cgccgctgct agccgagcac tctcgccaga acctctggct cgcgcgtgcc
       61 ttttcccctc aggttgtggg gagagcggaa tcctgctccg ccgtcgcagc agcagcggca
      121 gccccggcag cctcgggcga cagcggcggc gcgcgagccc ccgggcggac cgtaccaccg
      181 ctcgccagca cgcaggggga gccgcccgtc tcgccgcgca cgcctcggcg accccgcggg
      241 gctgaggcgt cgccgcgccc ggcagcgtga gcgcagagcc ggcctcgacc ccgagctcgg
      301 agccccgcgg gccgcgcccg ccgccggccc cacccatccg ggtcgaggag gccgaggcca
      361 tggctgagac ggaggagcgg agcctggaca acttctttgc caagagggac aagaagaaga
      421 agaaggagcg gagcaaccgg gcggcgagtg ccgcgggcgc agcgggcagc gccggcggaa
      481 gcagtggagc cgcgggtgcg gcgggcggcg gggcgggcgc ggggacccgg ccgggtgacg
      541 gcgggaccgc cagcgcgggg gctgcgggcc caggggccgc caccaaggct gtgacgaagg
      601 acgaagatga atggaaagaa ttggagcaaa aagaggttga ttacagcggc ctcagggttc
      661 aggcaatgca aataagcagt gaaaaggaag aagacgataa tgaaaagaga caagatccag
      721 gtgataactg ggaagaaggt ggaggtggtg gtggaggtat ggaaaaatct tcaggtccct
      781 ggaataaaac agctccagta caagcacctc ctgctccagt aattgttaca gaaaccccag
      841 aaccagcgat gactagtggt gtgtataggc ctcctggggc caggttaacc acaacaagga
      901 aaacaccaca aggaccacca gaaatctaca gtgatacaca gttcccatcc ctgcagtcaa
      961 ctgccaagca tgtagaaagc cggaaggata aagaaatgga gaagagcttt gaagtagtaa
     1021 gacacaaaaa tagaggtagg gatgaggttt caaaaaacca ggcccttaaa cttcagctag
     1081 acaaccaata tgctgtgctt gaaaatcaga aaagcagcca ctcacaatac aattaaggaa
     1141 tgggctttgc taacccttct gaggtaacta gactgcagct aaccaccacc aacagccatt
     1201 catcatctga tctctgctgg atctacagac accgatgcag accactcgat ttcatgaccg
     1261 gccctattgc actatggaag ttaaagtgtc acgactgctc tatgcatatt ggatttaggg
     1321 gaattttcat tgttacataa atgtgtgaac tagtttcaac agtgttcttt catatttact
     1381 ctgcaaatac aaaaaaccaa aacctgcagc cagtggtcat ttcaaaatct ttttatgttc
     1441 agatactgag ccttcataag ggttgactac ctcagatttg ctgcactcat tgtggacttc
     1501 atgtggatca caacttctgg ataagaagat tacaactatt aagtgtcgat gtgaaccttg
     1561 caaccagctc tactggattc ttatcagaaa tcctgcataa aaagtcagcc atctgggttc
     1621 tgatctgctg taaaagatga agatttaagt gaccttaatt aacctgtcct gtgccctacc
     1681 cttaaggaat actctctgta gtaggctgtt gttatattag acttcctgga acacactgct
     1741 gaaaagaact gatgtgttca gatcatctgt gtagggctgt gatttgtaat ttaaactaat
     1801 tgtattctga ggtaaccaca aaataaattc aaccaaactg gggtccacca agtgggggaa
     1861 ggggaaggga gagaataatc ttgggggttt tttttttttg gtaatttttt tatttggata
     1921 gtgctttttt gttttgtttt tgttctgcat taaggccttt tttgctttga cttgaaataa
     1981 gttctttgac agagcatatt gcttggttaa ttaagtaacc taaagtatgc attaggattg
     2041 tgaaatgtct cgtgagtatg ccaatcctga gggtggaacc aaatagcctt tgatgaaaag
     2101 ggcagtggat tctggaggct ctacttcagg tgctgctata atgcctcatc taatcaggac
     2161 taaattgtgt aggaaactgc agtgggaaga atatgctttc tgctcaggct aagagggtca
     2221 ctgatctgtc cttagaaatt cagagtaaca tgagcaaaac ctcagctaaa acccatttaa
     2281 gtggcatgga ttgtgcatga tctttgataa gaattcctca tgtacttgtg cctagttttt
     2341 caaggtattg gctgttctat agatgcagtg attgtcccag ctagctctgt taccagcctt
     2401 ttggtgtgtc tttatgttca tttggagagt cagggcgaaa gacaggtgat gtagcacttc
     2461 tgtttttaat aattattgct taaaatacct attaatagtt ttgggtcatt taaagggact
     2521 tgaggaagct acccaggatt acagaagagt gtccacctaa caagatggtc tggcagtttc
     2581 ctagttttgt atctggttca atagaaatat gtgaaagtgg taatgtcatc atttgatgca
     2641 gagtccgggt ttctctataa taaatccctt tgccaaatgc atgagttgca gacttgctac
     2701 tggcaagagt gaagcaagtg ggtgagtaaa actattttga cgtgggagcg ttttcagata
     2761 ggagtttagt cttgacgaaa gtgtccgtgc aggaattgga ctccgaggag ggttacagta
     2821 tctcctgacg ggacctgcca ctcgcatctg ggcaatgttg acatttgagg tggcaggcag
     2881 gatgcctgcc ttctaatata tttgggtgag taactgagcc agccaaggga aggttgaatg
     2941 attaaatcag aaatgggatt cttggtaaac tgaagacttt tatttgggaa tgaaaaacct
     3001 taaaaaaatc tcttcatcgt tgaactgtgc attttccctg cattttttcc caacaaaatt
     3061 ttgttggggg ttatgttact gaagaatgaa cagatgagta agtggaggtg ttatgtaaag
     3121 gcatattgta ctcgaaatct gaagacctgc agcagattta aattacaact cttgttataa
     3181 ctttttaaaa gattgtgaaa atatcaaaat ataaatgaat caagttttaa tatactgtat
     3241 gatgggtgga tgaggctgtc cattgtacca tttgtttgaa ttctcaggca tggtttggca
     3301 gtgcaagaat tctgtaacat taacaaattc aataaaaagt aaatatatgg a
//
