LOCUS       NM_001166534            2390 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens DEAD-box helicase 4 (DDX4), transcript variant 4,
            mRNA.
ACCESSION   NM_001166534
VERSION     NM_001166534.2
KEYWORDS    RefSeq.
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 2390)
  AUTHORS   Noyes,C., Kitajima,S., Li,F., Suita,Y., Miriyala,S., Isaac,S.,
            Ahsan,N., Knelson,E., Vajdi,A., Tani,T., Thai,T.C., Xu,D.,
            Murai,J., Tapinos,N., Takahashi,C., Barbie,D.A. and Yajima,M.
  TITLE     The germline factor DDX4 contributes to the chemoresistance of
            small cell lung cancer cells
  JOURNAL   Commun Biol 6 (1), 65 (2023)
   PUBMED   36653474
  REMARK    GeneRIF: The germline factor DDX4 contributes to the
            chemoresistance of small cell lung cancer cells.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2390)
  AUTHORS   Kim,J.A., Shen,S., Matson,D.R., Lovrien,L.N., Smith-Simmer,K.J.,
            Keles,S., Churpek,J.E. and Bresnick,E.H.
  TITLE     Discriminating activities of DEAD-Box Helicase 41 from myeloid
            malignancy-associated germline variants by genetic rescue
  JOURNAL   Leukemia 37 (1), 235-239 (2023)
   PUBMED   36347925
  REMARK    GeneRIF: Discriminating activities of DEAD-Box Helicase 41 from
            myeloid malignancy-associated germline variants by genetic rescue.
REFERENCE   3  (bases 1 to 2390)
  AUTHORS   Amirian,M., Azizi,H., Hashemi Karoii,D. and Skutella,T.
  TITLE     VASA protein and gene expression analysis of human non-obstructive
            azoospermia and normal by immunohistochemistry,
            immunocytochemistry, and bioinformatics analysis
  JOURNAL   Sci Rep 12 (1), 17259 (2022)
   PUBMED   36241908
  REMARK    GeneRIF: VASA protein and gene expression analysis of human
            non-obstructive azoospermia and normal by immunohistochemistry,
            immunocytochemistry, and bioinformatics analysis.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2390)
  AUTHORS   D'Oronzo,S., Silvestris,E., Lovero,D., Cafforio,P., Duda,L.,
            Cormio,G., Paradiso,A., Palmirotta,R. and Silvestris,F.
  TITLE     DEAD-Box Helicase 4 (Ddx4)+ Stem Cells Sustain Tumor Progression in
            Non-Serous Ovarian Cancers
  JOURNAL   Int J Mol Sci 21 (17), 6096 (2020)
   PUBMED   32847044
  REMARK    GeneRIF: DEAD-Box Helicase 4 (Ddx4)(+) Stem Cells Sustain Tumor
            Progression in Non-Serous Ovarian Cancers.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2390)
  AUTHORS   Clarkson,Y.L., Weatherall,E., Waterfall,M., McLaughlin,M., Lu,H.,
            Skehel,P.A., Anderson,R.A. and Telfer,E.E.
  TITLE     Extracellular Localisation of the C-Terminus of DDX4 Confirmed by
            Immunocytochemistry and Fluorescence-Activated Cell Sorting
  JOURNAL   Cells 8 (6), 578 (2019)
   PUBMED   31212843
  REMARK    GeneRIF: This study clearly demonstrates that the C-terminus of
            DDX4 can be expressed on the cell surface despite its lack of a
            conventional membrane-targeting or secretory sequence.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2390)
  AUTHORS   Albamonte,M.S., Willis,M.A., Albamonte,M.I., Jensen,F.,
            Espinosa,M.B. and Vitullo,A.D.
  TITLE     The developing human ovary: immunohistochemical analysis of
            germ-cell-specific VASA protein, BCL-2/BAX expression balance and
            apoptosis
  JOURNAL   Hum Reprod 23 (8), 1895-1901 (2008)
   PUBMED   18534994
  REMARK    GeneRIF: VASA showed a differential pattern of expression
            throughout the differentiation and proliferative phase and prophase
            I to finally associate with Balbiani's body in primordial and
            primary follicles.
REFERENCE   7  (bases 1 to 2390)
  AUTHORS   Guo,X., Gui,Y.T., Tang,A.F., Lu,L.H., Gao,X. and Cai,Z.M.
  TITLE     Differential expression of VASA gene in ejaculated spermatozoa from
            normozoospermic men and patients with oligozoospermia
  JOURNAL   Asian J Androl 9 (3), 339-344 (2007)
   PUBMED   17486274
  REMARK    GeneRIF: The expression of VASA mRNA and protein was significantly
            decreased in the sperm of oligozoospermic men.
REFERENCE   8  (bases 1 to 2390)
  AUTHORS   Kuramochi-Miyagawa,S., Kimura,T., Ijiri,T.W., Isobe,T., Asada,N.,
            Fujita,Y., Ikawa,M., Iwai,N., Okabe,M., Deng,W., Lin,H., Matsuda,Y.
            and Nakano,T.
  TITLE     Mili, a mammalian member of piwi family gene, is essential for
            spermatogenesis
  JOURNAL   Development 131 (4), 839-849 (2004)
   PUBMED   14736746
REFERENCE   9  (bases 1 to 2390)
  AUTHORS   Zeeman,A.M., Stoop,H., Boter,M., Gillis,A.J., Castrillon,D.H.,
            Oosterhuis,J.W. and Looijenga,L.H.
  TITLE     VASA is a specific marker for both normal and malignant human germ
            cells
  JOURNAL   Lab Invest 82 (2), 159-166 (2002)
   PUBMED   11850529
  REMARK    GeneRIF: marker for normal and malignant germ cells
REFERENCE   10 (bases 1 to 2390)
  AUTHORS   Castrillon,D.H., Quade,B.J., Wang,T.Y., Quigley,C. and Crum,C.P.
  TITLE     The human VASA gene is specifically expressed in the germ cell
            lineage
  JOURNAL   Proc Natl Acad Sci U S A 97 (17), 9585-9590 (2000)
   PUBMED   10920202
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB051674.1, AK093439.1, DB022413.1, DB508256.1 and AC016632.7.
            
            On Aug 14, 2020 this sequence version replaced NM_001166534.1.
            
            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 this family
            are believed to be involved in embryogenesis, spermatogenesis, and
            cellular growth and division. This gene encodes a DEAD box protein,
            which is a homolog of VASA proteins in Drosophila and several other
            species. The gene is specifically expressed in the germ cell
            lineage in both sexes and functions in germ cell development.
            Multiple transcript variants encoding different isoforms have been
            found for this gene. [provided by RefSeq, Oct 2009].
            
            Transcript Variant: This variant (4) has a novel first exon
            representing use of an alternate internal promoter site compared to
            variant 1. The predicted protein isoform (4) is shorter and has a
            distinct N-terminus.
            
            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 :: AK093439.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2151119
                                           [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-26                DB051674.1         2-27
            27-77               AK093439.1         1-51
            78-271              DB022413.1         76-269
            272-316             AK093439.1         246-290
            317-522             DB022413.1         363-568
            523-2010            AK093439.1         497-1984
            2011-2379           DB508256.1         49-417
            2380-2390           AC016632.7         32632-32642         c
FEATURES             Location/Qualifiers
     source          1..2390
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q11.2"
     gene            1..2390
                     /gene="DDX4"
                     /gene_synonym="VASA"
                     /note="DEAD-box helicase 4"
                     /db_xref="GeneID:54514"
                     /db_xref="HGNC:HGNC:18700"
                     /db_xref="MIM:605281"
     exon            1..82
                     /gene="DDX4"
                     /gene_synonym="VASA"
                     /inference="alignment:Splign:2.1.0"
     CDS             46..1773
                     /gene="DDX4"
                     /gene_synonym="VASA"
                     /EC_number="3.6.4.13"
                     /note="isoform 4 is encoded by transcript variant 4;
                     DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4; probable
                     ATP-dependent RNA helicase DDX4; vasa homolog; DEAD box
                     protein 4; DEAD (Asp-Glu-Ala-Asp) box polypeptide 4"
                     /codon_start=1
                     /product="probable ATP-dependent RNA helicase DDX4 isoform
                     4"
                     /protein_id="NP_001160006.1"
                     /db_xref="CCDS:CCDS54855.1"
                     /db_xref="GeneID:54514"
                     /db_xref="HGNC:HGNC:18700"
                     /db_xref="MIM:605281"
                     /translation="MGSRNLFLTNSPESSNDCEDNPTRNRGFSKRGDNDLDPDECMQR
                     TGGLFGSRRPVLSGTGNGDTSQSRSGSGSERDSWKSEAEGGESSDTQGPKVTYIPPPP
                     PEDEDSIFAHYQTGINFDKYDTILVEVSGHDAPPAILTFEEANLCQTLNNNIAKAGYT
                     KLTPVQKYSIPIILAGRDLMACAQTGSGKTAAFLLPILAHMMHDGITASRFKELQEPE
                     CIIVAPTRELVNQIYLEARKFSFGTCVRAVVIYGGTQLGHSIRQIVQGCNILCATPGR
                     LMDIIGKEKIGLKQIKYLVLDEADRMLDMGFGPEMKKLISCPGMPSKEQRQTLMFSAT
                     FPEEIQRLAAEFLKSNYLFVAVGQVGGACRDVQQTVLQVGQFSKREKLVEILRNIGDE
                     RTMVFVETKKKADFIATFLCQEKISTTSIHGDREQREREQALGDFRFGKCPVLVATSV
                     AARGLDIENVQHVINFDLPSTIDEYVHRIGRTGRCGNTGRAISFFDLESDNHLAQPLV
                     KVLTDAQQDVPAWLEEIAFSTYIPGFSGSTRGNVFASVDTRKGKSTLNTAGFSSSQAP
                     NPVDDESWD"
     exon            83..142
                     /gene="DDX4"
                     /gene_synonym="VASA"
                     /inference="alignment:Splign:2.1.0"
     exon            143..223
                     /gene="DDX4"
                     /gene_synonym="VASA"
                     /inference="alignment:Splign:2.1.0"
     exon            224..271
                     /gene="DDX4"
                     /gene_synonym="VASA"
                     /inference="alignment:Splign:2.1.0"
     exon            272..319
                     /gene="DDX4"
                     /gene_synonym="VASA"
                     /inference="alignment:Splign:2.1.0"
     exon            320..462
                     /gene="DDX4"
                     /gene_synonym="VASA"
                     /inference="alignment:Splign:2.1.0"
     exon            463..615
                     /gene="DDX4"
                     /gene_synonym="VASA"
                     /inference="alignment:Splign:2.1.0"
     exon            616..770
                     /gene="DDX4"
                     /gene_synonym="VASA"
                     /inference="alignment:Splign:2.1.0"
     exon            771..900
                     /gene="DDX4"
                     /gene_synonym="VASA"
                     /inference="alignment:Splign:2.1.0"
     exon            901..1067
                     /gene="DDX4"
                     /gene_synonym="VASA"
                     /inference="alignment:Splign:2.1.0"
     exon            1068..1213
                     /gene="DDX4"
                     /gene_synonym="VASA"
                     /inference="alignment:Splign:2.1.0"
     exon            1214..1313
                     /gene="DDX4"
                     /gene_synonym="VASA"
                     /inference="alignment:Splign:2.1.0"
     exon            1314..1584
                     /gene="DDX4"
                     /gene_synonym="VASA"
                     /inference="alignment:Splign:2.1.0"
     exon            1585..1695
                     /gene="DDX4"
                     /gene_synonym="VASA"
                     /inference="alignment:Splign:2.1.0"
     exon            1696..2390
                     /gene="DDX4"
                     /gene_synonym="VASA"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1991..1996
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DDX4"
                     /gene_synonym="VASA"
                     /note="hexamer: ATTAAA"
     polyA_site      2010
                     /gene="DDX4"
                     /gene_synonym="VASA"
                     /note="major polyA site"
ORIGIN      
        1 ttacatttcg aaaaatcatt cctttcagaa taaacatttc tgggaatggg gtctaggaat
       61 ttatttttaa ccaactctcc agagtctagt aatgactgcg aagataatcc aacacggaac
      121 agagggtttt ccaagagagg cgataatgac ttagacccag acgaatgtat gcagcgcact
      181 ggtggccttt ttggttctag aagaccagta ttaagtggca caggtaatgg tgatacttct
      241 caaagcagaa gtggcagtgg aagtgaacga gattcttgga agtcagaagc agaaggagga
      301 gaaagtagtg atactcaagg accaaaagtg acctacatac cccctcctcc acctgaggat
      361 gaggactcca tctttgcaca ttatcagaca ggcataaact tcgacaaata cgacactatt
      421 cttgtggaag tgtctggaca tgatgcacca ccagcaattc tgacttttga agaagctaat
      481 ctctgtcaga cactgaataa caacattgct aaagctggtt atactaagct tactcctgtg
      541 caaaaataca gtattcctat catacttgca ggacgagatt tgatggcttg cgctcaaaca
      601 gggtctggga agactgcggc ttttctccta ccaattttgg ctcatatgat gcatgatgga
      661 ataactgcca gtcgttttaa agagttgcag gaaccagagt gtattattgt agcaccaact
      721 cgagaattgg tcaaccagat ttatttggaa gccagaaaat tttcttttgg gacttgtgta
      781 agagctgttg ttatatatgg gggaacccag ctgggacatt caattcgaca aatagtacaa
      841 ggctgtaata tattatgtgc tactcctgga agactgatgg atatcatagg caaagaaaag
      901 attggtctca aacagatcaa atacttagtt ttggatgaag ctgatcgcat gttggatatg
      961 ggttttggtc cagaaatgaa gaagttaatt tcttgcccag gaatgccatc aaaggaacag
     1021 cgccaaaccc ttatgttcag tgcaactttt ccagaggaaa ttcaaaggtt ggctgcagag
     1081 tttttaaagt caaattatct gtttgttgct gttggacaag tgggtggagc atgtagagat
     1141 gttcagcaga ccgttctcca agttggccag ttctcaaaaa gagaaaagct cgttgaaatt
     1201 ctgcgaaaca taggggatga aagaactatg gtctttgttg aaactaagaa aaaagcagat
     1261 tttattgcaa cttttctttg tcaagaaaaa atatcaacta caagtattca tggtgatcgg
     1321 gaacagagag agcgggagca agctcttgga gattttcgct ttggaaagtg cccagttctt
     1381 gttgctactt cagtagctgc cagagggctg gatattgaaa atgtgcaaca tgttatcaat
     1441 tttgatcttc cttctaccat tgatgaatat gttcatcgaa ttgggcgtac tggtcgttgt
     1501 gggaatactg gcagagcaat ttcctttttt gatcttgaat cggataacca tttagcacag
     1561 cctctagtaa aagtattgac agatgctcaa caggatgttc ctgcatggtt ggaagaaatt
     1621 gcctttagta catacattcc tggcttcagt ggtagtacaa gaggaaacgt gtttgcatca
     1681 gttgatacca gaaagggcaa gagcactttg aacacagctg ggttttcttc ttcacaagct
     1741 cccaatccag tagatgatga gtcatgggat taaagccaaa acatccttca agtctgtggt
     1801 tttgatgcag agaagaaaat agttttgatt tttgagtttt taacagaagt ataaaactta
     1861 acattctcat agctcctgtc cttgtattct cactcctaca cttaaaaaaa aaatccttac
     1921 tgactagtta tgtgagatgc taaaacttac aacattgcag ttactgatac aaatggtgtt
     1981 aactgggaat attaaagcat tctaaatgtc tttcttattt ctggtatatt ctttaggggg
     2041 cttagacatg tttaatgttt aaatgccaag tcttactata gtgtttattg atcttataaa
     2101 acaagcaaat aggatatgat acacttttgg ttaaaaatta ctgggtctca tttttacttg
     2161 agtctttaaa acagtagtgt gtcactataa tgtgataatc tttaagagaa agtagaatac
     2221 ttaagccttt caaagtgatt ttgattttta gatcatcaga tgtatgatga aaatggttaa
     2281 atgtttgtga tgggagctct gtactcaatg gcataacaat gtttattttt ataatataca
     2341 atctttcctt gaaataaagg atgaaacact tttcccttaa gttttccatc
//
