LOCUS       NM_024072               4377 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens DEAD-box helicase 54 (DDX54), transcript variant 2,
            mRNA.
ACCESSION   NM_024072
VERSION     NM_024072.4
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 4377)
  AUTHORS   Zhang,Y., Guo,H. and Zhang,H.
  TITLE     SNHG10/DDX54/PBX3 Feedback Loop Contributes to Gastric Cancer Cell
            Growth
  JOURNAL   Dig Dis Sci 66 (6), 1875-1884 (2021)
   PUBMED   32712782
  REMARK    GeneRIF: SNHG10/DDX54/PBX3 Feedback Loop Contributes to Gastric
            Cancer Cell Growth.
REFERENCE   2  (bases 1 to 4377)
  AUTHORS   Paine,I., Posey,J.E., Grochowski,C.M., Jhangiani,S.N.,
            Rosenheck,S., Kleyner,R., Marmorale,T., Yoon,M., Wang,K.,
            Robison,R., Cappuccio,G., Pinelli,M., Magli,A., Coban Akdemir,Z.,
            Hui,J., Yeung,W.L., Wong,B.K.Y., Ortega,L., Bekheirnia,M.R.,
            Bierhals,T., Hempel,M., Johannsen,J., Santer,R., Aktas,D.,
            Alikasifoglu,M., Bozdogan,S., Aydin,H., Karaca,E., Bayram,Y.,
            Ityel,H., Dorschner,M., White,J.J., Wilichowski,E., Wortmann,S.B.,
            Casella,E.B., Kitajima,J.P., Kok,F., Monteiro,F., Muzny,D.M.,
            Bamshad,M., Gibbs,R.A., Sutton,V.R., Van Esch,H.,
            Brunetti-Pierri,N., Hildebrandt,F., Brautbar,A., Van den
            Veyver,I.B., Glass,I., Lessel,D., Lyon,G.J. and Lupski,J.R.
  CONSRTM   University of Washington Center for Mendelian Genomics,
            Baylor-Hopkins Center for Mendelian Genomics, Telethon Undiagnosed
            Diseases Program
  TITLE     Paralog Studies Augment Gene Discovery: DDX and DHX Genes
  JOURNAL   Am J Hum Genet 105 (2), 302-316 (2019)
   PUBMED   31256877
  REMARK    GeneRIF: Missense mutation in DDX54 gene is associated with
            neurodevelopmental disorder.
REFERENCE   3  (bases 1 to 4377)
  AUTHORS   Aslibekyan,S., An,P., Frazier-Wood,A.C., Kabagambe,E.K.,
            Irvin,M.R., Straka,R.J., Tiwari,H.K., Tsai,M.Y., Hopkins,P.N.,
            Borecki,I.B., Ordovas,J.M. and Arnett,D.K.
  TITLE     Preliminary evidence of genetic determinants of adiponectin
            response to fenofibrate in the Genetics of Lipid Lowering Drugs and
            Diet Network
  JOURNAL   Nutr Metab Cardiovasc Dis 23 (10), 987-994 (2013)
   PUBMED   23149075
REFERENCE   4  (bases 1 to 4377)
  AUTHORS   Zhan,R., Yamamoto,M., Ueki,T., Yoshioka,N., Tanaka,K., Morisaki,H.,
            Seiwa,C., Yamamoto,Y., Kawano,H., Tsuruo,Y., Watanabe,K., Asou,H.
            and Aiso,S.
  TITLE     A DEAD-box RNA helicase Ddx54 protein in oligodendrocytes is
            indispensable for myelination in the central nervous system
  JOURNAL   J Neurosci Res 91 (3), 335-348 (2013)
   PUBMED   23239230
  REMARK    GeneRIF: Ddx54 plays an important role in central nervous system
            myelination, presumably in myelin sheath formation after the
            differentiation of oligodendrocytes.
REFERENCE   5  (bases 1 to 4377)
  AUTHORS   Kanno,Y., Serikawa,T., Inajima,J. and Inouye,Y.
  TITLE     DP97, a DEAD box DNA/RNA helicase, is a target gene-selective
            co-regulator of the constitutive androstane receptor
  JOURNAL   Biochem Biophys Res Commun 426 (1), 38-42 (2012)
   PUBMED   22910411
  REMARK    GeneRIF: DP97 was found to be a gene (or promoter)-selective
            co-activator for hCAR
REFERENCE   6  (bases 1 to 4377)
  AUTHORS   Satoh,J., Nanri,Y. and Yamamura,T.
  TITLE     Rapid identification of 14-3-3-binding proteins by protein
            microarray analysis
  JOURNAL   J Neurosci Methods 152 (1-2), 278-288 (2006)
   PUBMED   16260042
  REMARK    GeneRIF: Identifies dead box polypeptide 54 as a 14-3-3-binding
            protein.
REFERENCE   7  (bases 1 to 4377)
  AUTHORS   Andersen,J.S., Lam,Y.W., Leung,A.K., Ong,S.E., Lyon,C.E.,
            Lamond,A.I. and Mann,M.
  TITLE     Nucleolar proteome dynamics
  JOURNAL   Nature 433 (7021), 77-83 (2005)
   PUBMED   15635413
  REMARK    GeneRIF: Kinetic analysis of DEAD box helicases, including DEAD box
            polypeptide 54, in response to transcription inhibition.
REFERENCE   8  (bases 1 to 4377)
  AUTHORS   Rajendran,R.R., Nye,A.C., Frasor,J., Balsara,R.D., Martini,P.G. and
            Katzenellenbogen,B.S.
  TITLE     Regulation of nuclear receptor transcriptional activity by a novel
            DEAD box RNA helicase (DP97)
  JOURNAL   J Biol Chem 278 (7), 4628-4638 (2003)
   PUBMED   12466272
REFERENCE   9  (bases 1 to 4377)
  AUTHORS   Scherl,A., Coute,Y., Deon,C., Calle,A., Kindbeiter,K.,
            Sanchez,J.C., Greco,A., Hochstrasser,D. and Diaz,J.J.
  TITLE     Functional proteomic analysis of human nucleolus
  JOURNAL   Mol Biol Cell 13 (11), 4100-4109 (2002)
   PUBMED   12429849
  REMARK    GeneRIF: Identifies DEAD box polypeptide 54 (similar to RIKEN cDNA
            2410015A15 gene) as one of 213 different nucleolar proteins in HeLa
            cells.
REFERENCE   10 (bases 1 to 4377)
  AUTHORS   Andersen,J.S., Lyon,C.E., Fox,A.H., Leung,A.K., Lam,Y.W., Steen,H.,
            Mann,M. and Lamond,A.I.
  TITLE     Directed proteomic analysis of the human nucleolus
  JOURNAL   Curr Biol 12 (1), 1-11 (2002)
   PUBMED   11790298
  REMARK    GeneRIF: Identifies DEAD (Asp-Glu-Ala-Asp) box polypeptide 54
            (locus 79039) as a novel nucleolar protein in HeLa cells.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF478457.1 and BC005848.2.
            
            On Jun 2, 2019 this sequence version replaced NM_024072.3.
            
            Summary: This gene encodes a member of the DEAD box protein family.
            DEAD box proteins, characterized by the conserved motif
            Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are
            implicated in a number of cellular processes involving alteration
            of RNA secondary structure such as translation initiation, nuclear
            and mitochondrial splicing, and ribosome and spliceosome assembly.
            Based on their distribution patterns, some members of this family
            are believed to be involved in embryogenesis, spermatogenesis, and
            cellular growth and division. The nucleolar protein encoded by this
            gene interacts in a hormone-dependent manner with nuclear
            receptors, and represses their transcriptional activity.
            Alternative splice variants that encode different isoforms have
            been found for this gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site in the 3' coding region, compared to variant 1,
            resulting in a shorter protein (isoform 2), 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 :: BC005848.2, SRR14038196.2808816.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000306014.10/ ENSP00000304072.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2327              AF478457.1         2-2328
            2328-4377           BC005848.2         2250-4299
FEATURES             Location/Qualifiers
     source          1..4377
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.13"
     gene            1..4377
                     /gene="DDX54"
                     /gene_synonym="DP97"
                     /note="DEAD-box helicase 54"
                     /db_xref="GeneID:79039"
                     /db_xref="HGNC:HGNC:20084"
                     /db_xref="MIM:611665"
     exon            1..201
                     /gene="DDX54"
                     /gene_synonym="DP97"
                     /inference="alignment:Splign:2.1.0"
     CDS             28..2673
                     /gene="DDX54"
                     /gene_synonym="DP97"
                     /EC_number="3.6.4.13"
                     /note="isoform 2 is encoded by transcript variant 2; DEAD
                     box helicase 97 KDa; ATP-dependent RNA helicase DDX54;
                     DEAD box protein 54; DEAD box RNA helicase 97 kDa;
                     ATP-dependent RNA helicase DP97; DEAD (Asp-Glu-Ala-Asp)
                     box polypeptide 54; apoptosis related protein 5; DEAD box
                     polypeptide, 97kD"
                     /codon_start=1
                     /product="ATP-dependent RNA helicase DDX54 isoform 2"
                     /protein_id="NP_076977.3"
                     /db_xref="CCDS:CCDS31907.1"
                     /db_xref="GeneID:79039"
                     /db_xref="HGNC:HGNC:20084"
                     /db_xref="MIM:611665"
                     /translation="MAADKGPAAGPRSRAAMAQWRKKKGLRKRRGAASQARGSDSEDG
                     EFEIQAEDDARARKLGPGRPLPTFPTSECTSDVEPDTREMVRAQNKKKKKSGGFQSMG
                     LSYPVFKGIMKKGYKVPTPIQRKTIPVILDGKDVVAMARTGSGKTACFLLPMFERLKT
                     HSAQTGARALILSPTRELALQTLKFTKELGKFTGLKTALILGGDRMEDQFAALHENPD
                     IIIATPGRLVHVAVEMSLKLQSVEYVVFDEADRLFEMGFAEQLQEIIARLPGGHQTVL
                     FSATLPKLLVEFARAGLTEPVLIRLDVDTKLNEQLKTSFFLVREDTKAAVLLHLLHNV
                     VRPQDQTVVFVATKHHAEYLTELLTTQRVSCAHIYSALDPTARKINLAKFTLGKCSTL
                     IVTDLAARGLDIPLLDNVINYSFPAKGKLFLHRVGRVARAGRSGTAYSLVAPDEIPYL
                     LDLHLFLGRSLTLARPLKEPSGVAGVDGMLGRVPQSVVDEEDSGLQSTLEASLELRGL
                     ARVADNAQQQYVRSRPAPSPESIKRAKEMDLVGLGLHPLFSSRFEEEELQRLRLVDSI
                     KNYRSRATIFEINASSRDLCSQVMRAKRQKDRKAIARFQQGQQGRQEQQEGPVGPAPS
                     RPALQEKQPEKEEEEEAGESVEDIFSEVVGRKRQRSGPNRGAKRRREEARQRDQEFYI
                     PYRPKDFDSERGLSISGEGGAFEQQAAGAVLDLMGDEAQNLTRGRQQLKWDRKKKRFV
                     GQSGQEDKKKIKTESGRYISSSYKRDLYQKWKQKQKIDDRDSDEEGASDRRGPERRGG
                     KRDRGQGASRPHAPGTPAGRVRPELKTKQQILKQRRRAQKLHFLQRGGLKQLSARNRR
                     RVQELQQGAFGRGARSKKGKMRKRM"
     exon            202..331
                     /gene="DDX54"
                     /gene_synonym="DP97"
                     /inference="alignment:Splign:2.1.0"
     exon            332..402
                     /gene="DDX54"
                     /gene_synonym="DP97"
                     /inference="alignment:Splign:2.1.0"
     exon            403..591
                     /gene="DDX54"
                     /gene_synonym="DP97"
                     /inference="alignment:Splign:2.1.0"
     exon            592..641
                     /gene="DDX54"
                     /gene_synonym="DP97"
                     /inference="alignment:Splign:2.1.0"
     exon            642..683
                     /gene="DDX54"
                     /gene_synonym="DP97"
                     /inference="alignment:Splign:2.1.0"
     exon            684..779
                     /gene="DDX54"
                     /gene_synonym="DP97"
                     /inference="alignment:Splign:2.1.0"
     exon            780..901
                     /gene="DDX54"
                     /gene_synonym="DP97"
                     /inference="alignment:Splign:2.1.0"
     exon            902..963
                     /gene="DDX54"
                     /gene_synonym="DP97"
                     /inference="alignment:Splign:2.1.0"
     exon            964..1095
                     /gene="DDX54"
                     /gene_synonym="DP97"
                     /inference="alignment:Splign:2.1.0"
     exon            1096..1306
                     /gene="DDX54"
                     /gene_synonym="DP97"
                     /inference="alignment:Splign:2.1.0"
     exon            1307..1441
                     /gene="DDX54"
                     /gene_synonym="DP97"
                     /inference="alignment:Splign:2.1.0"
     exon            1442..1672
                     /gene="DDX54"
                     /gene_synonym="DP97"
                     /inference="alignment:Splign:2.1.0"
     exon            1673..1746
                     /gene="DDX54"
                     /gene_synonym="DP97"
                     /inference="alignment:Splign:2.1.0"
     exon            1747..1965
                     /gene="DDX54"
                     /gene_synonym="DP97"
                     /inference="alignment:Splign:2.1.0"
     exon            1966..2108
                     /gene="DDX54"
                     /gene_synonym="DP97"
                     /inference="alignment:Splign:2.1.0"
     exon            2109..2222
                     /gene="DDX54"
                     /gene_synonym="DP97"
                     /inference="alignment:Splign:2.1.0"
     exon            2223..2327
                     /gene="DDX54"
                     /gene_synonym="DP97"
                     /inference="alignment:Splign:2.1.0"
     exon            2328..2440
                     /gene="DDX54"
                     /gene_synonym="DP97"
                     /inference="alignment:Splign:2.1.0"
     exon            2441..4377
                     /gene="DDX54"
                     /gene_synonym="DP97"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3036..3041
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DDX54"
                     /gene_synonym="DP97"
                     /note="hexamer: AATAAA"
     polyA_site      3057
                     /gene="DDX54"
                     /gene_synonym="DP97"
                     /note="major polyA site"
     regulatory      4347..4352
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DDX54"
                     /gene_synonym="DP97"
                     /note="hexamer: AATAAA"
     polyA_site      4377
                     /gene="DDX54"
                     /gene_synonym="DP97"
ORIGIN      
        1 cttctgcgtt cccagcgcgc ggcccgaatg gcggccgaca agggcccggc ggctggacct
       61 cggtcgcgag ctgccatggc ccagtggagg aagaagaaag ggctccggaa gcgccgaggc
      121 gcggcctccc aggcccgcgg cagcgactcg gaggacggcg agtttgagat ccaggcggaa
      181 gatgacgccc gggcccggaa gctgggacct ggaagacccc tgcccacctt ccccacctcg
      241 gaatgcacct cggatgtgga gccggacacc cgggagatgg tgcgtgccca gaacaagaag
      301 aagaagaagt ctggaggctt ccagtccatg ggcctgagct acccggtgtt caaaggcatc
      361 atgaagaagg ggtacaaggt gccaacaccc atccagagga agaccatccc ggtgatcttg
      421 gatggcaagg acgtggtggc catggcccgg acgggcagtg gcaagacagc ctgcttcctc
      481 ctcccaatgt tcgagcggct caagacccac agtgcccaga ccggggcccg cgccctcatc
      541 ctctcgccga cccgagagct ggccctgcag accctgaagt tcactaagga gctaggcaag
      601 ttcactggcc tcaagactgc cctgatcctg ggtggagaca ggatggaaga ccagtttgca
      661 gccctgcacg aaaatcccga cataattatt gccacgcccg gacggttggt gcatgtggct
      721 gtggaaatga gcctgaagct gcagagtgtg gaatacgtgg tgttcgatga agctgaccgg
      781 ctttttgaaa tgggtttcgc agagcagctg caggagatca tcgcccgcct ccccgggggc
      841 caccagacgg tgctgttctc cgccacgctg cccaaactgc tggtggaatt tgcccgggct
      901 ggcctcacgg agcccgtgct catccggctt gacgtggata ccaagctcaa cgagcagctg
      961 aagacctcct tcttcctcgt gcgggaggac accaaggctg ccgtgctgct ccacctgctg
     1021 cacaacgtgg tgcggcccca ggaccagacc gtggtgtttg tggccacgaa gcaccacgcc
     1081 gagtacctca ctgagctgct gacgacccag cgggtgagct gcgcccacat ctacagtgcc
     1141 ctagacccga cagcccgcaa gatcaatctc gccaaattca cgcttggcaa gtgctccact
     1201 ctcattgtga ctgacctggc cgcccgaggc ctggacatcc cgctgctgga caatgtcatc
     1261 aactacagct tccccgccaa gggcaaactc ttcctgcacc gcgtgggccg tgtggctcgg
     1321 gctggccgaa gtggcacagc ctactccttg gtggcccctg atgaaatccc ctacctgctg
     1381 gatctgcacc tgttcctggg ccgctccctc accctcgccc gacccctcaa ggagccctca
     1441 ggtgtggccg gtgtggatgg catgctgggt cgggtgccac agagtgtggt ggacgaggag
     1501 gacagtggtc tgcagagcac cctggaggca tcgctggagc tacggggcct ggcccgcgtt
     1561 gctgataacg cccagcagca gtatgtgcgc tcacgcccgg cgccctcgcc tgagtccatc
     1621 aagagggcca aggagatgga ccttgtgggg ctgggcctgc accccctctt cagctcgcgt
     1681 tttgaggagg aggagctgca gcggctgagg ctggtggaca gcataaagaa ctaccgctcc
     1741 cgggcgacta tctttgagat caacgcctcc agccgagacc tgtgcagcca ggtgatgcgc
     1801 gccaagcggc agaaggaccg caaggccatc gcccgcttcc agcagggaca gcaggggcgg
     1861 caggagcagc aggagggccc agtgggccca gccccgagcc gcccagcact gcaggagaag
     1921 cagcctgaga aggaggagga ggaggaggcg ggagagagtg tggaggacat tttctcagag
     1981 gtcgtgggcc ggaagcggca gcggtcagga cccaacaggg gagccaagag gcggagggag
     2041 gaggcccggc agcgggacca ggaattctac atcccctacc ggcccaagga ctttgacagc
     2101 gagcggggcc tgagcatcag cggggaaggg ggagcctttg agcagcaggc agctggcgct
     2161 gtcctggact tgatggggga tgaagcccag aacctgacga ggggccggca gcagctcaag
     2221 tgggaccgta agaagaagcg gtttgtggga cagtcaggac aggaagacaa gaagaagatt
     2281 aagacagaga gcggccgcta catcagcagc tcctacaagc gagacctcta tcagaagtgg
     2341 aaacagaaac agaaaattga tgatcgtgac tcggacgaag aaggggcatc tgaccggcga
     2401 ggcccagagc gaagaggtgg gaagcgagac cgtggccaag gtgcatcccg gccccacgcc
     2461 ccaggcaccc ctgcaggccg agtccgcccg gaactcaaga ccaagcagca gatcctgaag
     2521 cagcggcgcc gggcccagaa gctgcacttc ctgcagcgtg gtggcctcaa gcagctctct
     2581 gcccgcaacc gccgccgcgt ccaggagctg cagcagggcg ccttcggccg gggtgcccgc
     2641 tccaagaagg gcaagatgcg gaagaggatg tgaggaccag gacccagccc cgtggctcct
     2701 tgattggcct tagggtgggc atcagcagac gttcccgtgc accactgtgt gcctggccct
     2761 gtgctgggca ctgggggcac tccctgcagg agccatcatc tgtgaaaagg agcactgtat
     2821 ggccacagaa gggcagcagc tgcgtcagcc taagacagag acatttgaac agggccttga
     2881 agggtgtgca ggagttcgcc agcaaagcca ggcaggccaa gacttgagtt ggcaactcag
     2941 ctgctgctgc ttccatgtgt tctgggttca gaggtcatgg ctgcaccggt cagagccctg
     3001 agtgcctcag ggtttggcaa tggaattttt aatgtaataa atctttattg agcactgctg
     3061 gtggccagga gtgcggtcta cttggggaac tggaatggag agacccaggt actaaaatcc
     3121 cagctaacgt ggcagaggag ttgcgggtct cctgagggtg agttctgctg ccttgtccat
     3181 ttagcgatga ggaaagtgaa gctcagagca caaaccaggt gccagaggcg ggagttggtc
     3241 ccccttcctc ccactggaca tggttgcagc tgggagtggg ctgggggagg ggaacaggat
     3301 gcccagccca gggggcaagg acacagctgc tcccctctgg ctatgaagag gttaacgcgg
     3361 cccctccaca cctggaggtc agaacctggc ctgtcctctg tcttcttgcc acccaccccc
     3421 tgtttgaggt tctgagaagg tcaagggcag ccccagcagc tggattctca ggctgggccc
     3481 ctcacctggc agagtccata gtggaggggg ccttggtgat ctctcatcta gcatggaccc
     3541 tgttctgaga cctgacaaag agtttttttt catgccccaa ccaccctggc agggagggcc
     3601 tggtctgatc tcattttaga ggcagttgcc ccacacatag ccccttgacc ttcccatcac
     3661 ctcctcatca gggcctgcat ttatggagtg cttgctatgt gcccctcatg gcaggcccac
     3721 agcactctga acaggcacag ccctcccatc ttcccaatga ggaaacggat tcaggaagag
     3781 ccactcagtc cacaccccat tggaaatgtg ggccctccta tctcagggtc tctcaggggt
     3841 tccctctccc gctgctcacc tgtgtcaggg ctaggaggca ggggctgcag gctcagcctg
     3901 acccaggccg gccagcatgg cagagaggtc ctgcatgaac agcttcacct gggggggccc
     3961 agcacgaagt cacatcccag ccccagagtc actgtccagc ccccacccct caacacgcgg
     4021 gggaggccga aaggtagggc ggggactgga gatcccctca ttaaaagaac agtgatgatg
     4081 gtggttccca gaggtggtga ctgagatcct aaaccgttct gggttttgaa agcctcaggc
     4141 caaccttccc aactgctgcg tgagcagaca ccttcacagc ttcctcgctg ctgtcacctg
     4201 cactatccaa ttagtatttt catttacatc aatcagcttt attttcttgt aactggatca
     4261 gtcatattca ttggtttgtg acctactctt atctccgtgg gtggctctcc ttttgtttta
     4321 attaacttct ttatgaatat gaacttaata aataccatgg atccattgta aaaacta
//
