LOCUS       NM_018380               2317 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens DEAD-box helicase 28 (DDX28), mRNA.
ACCESSION   NM_018380
VERSION     NM_018380.4
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 2317)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   2  (bases 1 to 2317)
  AUTHORS   Evagelou,S.L., Bebenek,O., Specker,E.J. and Uniacke,J.
  TITLE     DEAD Box Protein Family Member DDX28 Is a Negative Regulator of
            Hypoxia-Inducible Factor 2alpha- and Eukaryotic Initiation Factor
            4E2-Directed Hypoxic Translation
  JOURNAL   Mol Cell Biol 40 (6), e00610-19 (2020)
   PUBMED   31907278
  REMARK    GeneRIF: The authors have identified the DEAD box protein family
            member DDX28 as an interactor and negative regulator of HIF-2alpha
            that suppresses HIF-2alpha's ability to activate eIF4E2-directed
            translation.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2317)
  AUTHORS   Antonicka,H. and Shoubridge,E.A.
  TITLE     Mitochondrial RNA Granules Are Centers for Posttranscriptional RNA
            Processing and Ribosome Biogenesis
  JOURNAL   Cell Rep 10 (6), 920-932 (2015)
   PUBMED   25683715
REFERENCE   4  (bases 1 to 2317)
  CONSRTM   Schizophrenia Working Group of the Psychiatric Genomics Consortium
  TITLE     Biological insights from 108 schizophrenia-associated genetic loci
  JOURNAL   Nature 511 (7510), 421-427 (2014)
   PUBMED   25056061
REFERENCE   5  (bases 1 to 2317)
  AUTHORS   Baltz,A.G., Munschauer,M., Schwanhausser,B., Vasile,A.,
            Murakawa,Y., Schueler,M., Youngs,N., Penfold-Brown,D., Drew,K.,
            Milek,M., Wyler,E., Bonneau,R., Selbach,M., Dieterich,C. and
            Landthaler,M.
  TITLE     The mRNA-bound proteome and its global occupancy profile on
            protein-coding transcripts
  JOURNAL   Mol Cell 46 (5), 674-690 (2012)
   PUBMED   22681889
REFERENCE   6  (bases 1 to 2317)
  AUTHORS   Bogenhagen,D.F., Rousseau,D. and Burke,S.
  TITLE     The layered structure of human mitochondrial DNA nucleoids
  JOURNAL   J Biol Chem 283 (6), 3665-3675 (2008)
   PUBMED   18063578
REFERENCE   7  (bases 1 to 2317)
  AUTHORS   Valgardsdottir,R. and Prydz,H.
  TITLE     Transport signals and transcription-dependent nuclear localization
            of the putative DEAD-box helicase MDDX28
  JOURNAL   J Biol Chem 278 (23), 21146-21154 (2003)
   PUBMED   12663657
  REMARK    GeneRIF: Three domains in the N-terminal half of the protein and
            its RNA binding ability were essential for nucleolar localization
            as well as transcription-inhibition-dependent localization to
            nuclear subcompartments and two were the nuclear localization
            signal
REFERENCE   8  (bases 1 to 2317)
  AUTHORS   Valgardsdottir,R., Brede,G., Eide,L.G., Frengen,E. and Prydz,H.
  TITLE     Cloning and characterization of MDDX28, a putative dead-box
            helicase with mitochondrial and nuclear localization
  JOURNAL   J Biol Chem 276 (34), 32056-32063 (2001)
   PUBMED   11350955
REFERENCE   9  (bases 1 to 2317)
  AUTHORS   Simpson,J.C., Wellenreuther,R., Poustka,A., Pepperkok,R. and
            Wiemann,S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
REFERENCE   10 (bases 1 to 2317)
  AUTHORS   Loftus,B.J., Kim,U.J., Sneddon,V.P., Kalush,F., Brandon,R.,
            Fuhrmann,J., Mason,T., Crosby,M.L., Barnstead,M., Cronin,L.,
            Deslattes Mays,A., Cao,Y., Xu,R.X., Kang,H.L., Mitchell,S.,
            Eichler,E.E., Harris,P.C., Venter,J.C. and Adams,M.D.
  TITLE     Genome duplications and other features in 12 Mb of DNA sequence
            from human chromosome 16p and 16q
  JOURNAL   Genomics 60 (3), 295-308 (1999)
   PUBMED   10493829
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC130462.3.
            
            On Aug 15, 2019 this sequence version replaced NM_018380.3.
            
            Summary: 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 the DEAD box
            protein family are believed to be involved in embryogenesis,
            spermatogenesis, and cellular growth and division. This gene is
            intronless. It encodes an RNA-dependent ATPase. The encoded protein
            is localized in the mitochondria and the nucleus, and can be
            transported between the mitochondria and the nucleus. [provided by
            RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on 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 is intronless :: SRR1660803.146912.1, BC024273.1
                                        [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000332395.7/
                                                  ENSP00000332340.6
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2317              AC130462.3         12391-14707         c
FEATURES             Location/Qualifiers
     source          1..2317
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q22.1"
     gene            1..2317
                     /gene="DDX28"
                     /gene_synonym="MDDX28"
                     /note="DEAD-box helicase 28"
                     /db_xref="GeneID:55794"
                     /db_xref="HGNC:HGNC:17330"
                     /db_xref="MIM:607618"
     exon            1..2317
                     /gene="DDX28"
                     /gene_synonym="MDDX28"
                     /inference="alignment:Splign:2.1.0"
     CDS             31..1653
                     /gene="DDX28"
                     /gene_synonym="MDDX28"
                     /EC_number="3.6.4.13"
                     /note="mitochondrial DEAD-box polypeptide 28; DEAD/H
                     (Asp-Glu-Ala-Asp/His) box polypeptide 28; mitochondrial
                     DEAD box protein 28; DEAD (Asp-Glu-Ala-Asp) box
                     polypeptide 28"
                     /codon_start=1
                     /product="probable ATP-dependent RNA helicase DDX28"
                     /protein_id="NP_060850.2"
                     /db_xref="CCDS:CCDS10858.1"
                     /db_xref="GeneID:55794"
                     /db_xref="HGNC:HGNC:17330"
                     /db_xref="MIM:607618"
                     /translation="MALTRPVRLFSLVTRLLLAPRRGLTVRSPDEPLPVVRIPVALQR
                     QLEQRQSRRRNLPRPVLVRPGPLLVSARRPELNQPARLTLGRWERAPLASQGWKSRRA
                     RRDHFSIERAQQEAPAVRKLSSKGSFADLGLEPRVLHALQEAAPEVVQPTTVQSSTIP
                     SLLRGRHVVCAAETGSGKTLSYLLPLLQRLLGQPSLDSLPIPAPRGLVLVPSRELAQQ
                     VRAVAQPLGRSLGLLVRDLEGGHGMRRIRLQLSRQPSADVLVATPGALWKALKSRLIS
                     LEQLSFLVLDEADTLLDESFLELVDYILEKSHIAEGPADLEDPFNPKAQLVLVGATFP
                     EGVGQLLNKVASPDAVTTITSSKLHCIMPHVKQTFLRLKGADKVAELVHILKHRDRAE
                     RTGPSGTVLVFCNSSSTVNWLGYILDDHKIQHLRLQGQMPALMRVGIFQSFQKSSRDI
                     LLCTDIASRGLDSTGVELVVNYDFPPTLQDYIHRAGRVGRVGSEVPGTVISFVTHPWD
                     VSLVQKIELAARRRRSLPGLASSVKEPLPQAT"
     regulatory      1906..1911
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DDX28"
                     /gene_synonym="MDDX28"
                     /note="hexamer: AATAAA"
     polyA_site      1928
                     /gene="DDX28"
                     /gene_synonym="MDDX28"
                     /note="major polyA site"
     regulatory      1938..1943
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DDX28"
                     /gene_synonym="MDDX28"
                     /note="hexamer: AATAAT"
     polyA_site      1959
                     /gene="DDX28"
                     /gene_synonym="MDDX28"
     regulatory      2290..2295
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DDX28"
                     /gene_synonym="MDDX28"
                     /note="hexamer: ATTAAA"
     polyA_site      2317
                     /gene="DDX28"
                     /gene_synonym="MDDX28"
ORIGIN      
        1 gatgtgcgct tctcccgcac taagggaaac atggctctaa cgcggccggt gcggctcttt
       61 tccctcgtga ctcggttgct cctggcgccg cgacggggcc tcacggtccg cagtcccgac
      121 gaacccctgc cggtggtgcg catcccagtg gctctacagc ggcagttgga acagcggcag
      181 agcaggcggc ggaacctccc gaggccggtg ctggttcgac ccggaccgct gctggtttcg
      241 gcgcggcggc cggagttgaa ccagccggcg cgcctcacac tgggccgttg ggagcgcgcg
      301 ccgctagcct ctcaaggctg gaagagtcga cgcgcgcgtc gggaccactt ctccatcgag
      361 cgcgcgcaac aggaggcgcc agcggtgcga aagctctcgt ctaagggcag ctttgctgac
      421 ctgggcctgg agccccgtgt gctgcacgca ctacaggagg ctgcgcctga agtcgttcag
      481 cccacaaccg tgcagtctag caccatcccc tcactacttc gcggccgcca tgtcgtttgc
      541 gccgcagaaa ccggcagtgg caagactctc agctacctcc tgccgctgct tcaacggctc
      601 ttgggccagc caagcctgga ctcccttcct atccccgcgc cccgaggcct ggtccttgtt
      661 ccttcccgag aattggccca acaggtgcgg gctgtggccc aacccttggg ccgctccttg
      721 ggcctgctgg tgcgggacct ggagggaggc cacggcatgc gtaggatcag gctgcagctg
      781 tccagacagc cttcagcaga tgtgcttgtg gccactccag gggctctgtg gaaggccctg
      841 aaaagtcgac tgatcagtct ggagcaactc tccttcttgg tgttggatga ggcagacaca
      901 ctgctggatg aaagcttcct ggaactggtg gactacatct tagagaagag ccacatagca
      961 gaaggcccag ctgacttgga agaccccttc aatcccaaag ctcagttagt gctggtagga
     1021 gccacatttc ccgaaggtgt aggccagttg ctgaataaag tcgccagccc agatgctgtc
     1081 accaccatca ccagctccaa gctccactgt atcatgcctc atgtgaaaca gacatttctg
     1141 agactgaagg gagcagataa ggtggccgag ctggtgcaca tcctcaagca tcgtgacaga
     1201 gcagaaagga ctggtccctc aggaactgtt ctggtgttct gtaatagctc cagcactgtg
     1261 aactggctgg gatatattct ggatgaccac aaaatccaac acctaaggtt gcaggggcaa
     1321 atgccagcct tgatgagggt aggaatcttc cagtccttcc agaagagctc ccgagacata
     1381 cttctctgca cagacatagc ctctcggggc ctggacagca ctggtgtgga gctggttgtc
     1441 aattatgatt tccccccaac gctgcaagat tacatccaca gagcagggag agtgggccgt
     1501 gtggggagcg aggtgccagg caccgtcatc agttttgtga cccatccctg ggatgtgagc
     1561 ctggttcaga agattgagct ggcggctcgc cgaaggagaa gtcttccagg actagcatcc
     1621 tcggtgaaag agcctttgcc ccaagcaacc tgattttgac aaatctgatt aaaatgtgat
     1681 gctagaacag ggatctttcc cagtatcttg agtgggtgac cacacttgtc agtgggaggc
     1741 tctgggctgc cctgtcggct ccttgagggc gggatgaact gctttgtgac ttggaaaggt
     1801 acgctgctgg ccagcattgg agaagaagct gctgagcatg gctttctgta gtctttagca
     1861 agacacaagt ggattttgac tttgtatcat gtcatgattt ctaacaataa atgatgtttt
     1921 tatgtgcctc ccctaagaat aattagcacc ggggcggaat tcagtagttt ctgaggattc
     1981 atacaccaaa cctccacatc taggacaaag gctctttcag ttgatgtttt catttataaa
     2041 catttagttt gtatttcctg cccccaaaaa ggtatccatt aagcccccag ggaaaggaaa
     2101 ggaaaggaaa tgtgactagc agtagacaga gttactctct aacaatgccc aagacaaacg
     2161 ggcgtcttgg cgaaatctct ggaaggtact ggcagaaaag taaagggtag acgaacacag
     2221 aagttttgct tgtacatttt caggttctgc cttctatccc aactcggtag ccgagaaaga
     2281 ggagagatga ttaaacggtt ttacaaaact ggaaaaa
//
