LOCUS       NM_018665               2430 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens DEAD-box helicase 43 (DDX43), mRNA.
ACCESSION   NM_018665
VERSION     NM_018665.3
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 2430)
  AUTHORS   Tabatabaei,T., Rezvany,M.R., Ghasemi,B., Vafaei,F., Zadeh,M.K.,
            Zaker,F. and Salmaninejad,A.
  TITLE     Effect of DNMT3A R882H Hot Spot Mutations on DDX43 Promoter
            Methylation in Acute Myeloid Leukemia
  JOURNAL   Biomed Res Int 2024, 9625043 (2024)
   PUBMED   38807916
  REMARK    GeneRIF: Effect of DNMT3A R882H Hot Spot Mutations on DDX43
            Promoter Methylation in Acute Myeloid Leukemia.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2430)
  AUTHORS   Amer,N.N., Khairat,R., Hammad,A.M. and Kamel,M.M.
  TITLE     DDX43 mRNA expression and protein levels in relation to
            clinicopathological profile of breast cancer
  JOURNAL   PLoS One 18 (5), e0284455 (2023)
   PUBMED   37200388
  REMARK    GeneRIF: DDX43 mRNA expression and protein levels in relation to
            clinicopathological profile of breast cancer.
            Erratum:[PLoS One. 2024 Dec 26;19(12):e0316591. doi:
            10.1371/journal.pone.0316591.. PMID: 39724251]
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2430)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (bases 1 to 2430)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 2430)
  AUTHORS   Wu,H., Zhai,L.T., Chen,P.Y. and Xi,X.G.
  TITLE     DDX43 prefers single strand substrate and its full binding activity
            requires physical connection of all domains
  JOURNAL   Biochem Biophys Res Commun 520 (3), 594-599 (2019)
   PUBMED   31623828
  REMARK    GeneRIF: DDX43 prefers single-strand DNA or RNA with length longer
            than 12nt and much prefers guanosine than the other three
            nucleotides. Achievement of the full binding affinity of protein to
            substrate needs the existence of all domains, and they must be
            connected. The absence of either of them or the disjunction can
            result in a decreased binding affinity to substrates, approximately
            reduced 10-fold.
REFERENCE   6  (bases 1 to 2430)
  AUTHORS   Mathieu,M.G., Linley,A.J., Reeder,S.P., Badoual,C., Tartour,E.,
            Rees,R.C. and McArdle,S.E.
  TITLE     HAGE, a cancer/testis antigen expressed at the protein level in a
            variety of cancers
  JOURNAL   Cancer Immun 10, 2 (2010)
   PUBMED   20058853
  REMARK    GeneRIF: HAGE protein expression was confirmed in 75% (12/16) of
            carcinomas as compared to normal tissues
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 2430)
  AUTHORS   Mathieu,M.G., Knights,A.J., Pawelec,G., Riley,C.L., Wernet,D.,
            Lemonnier,F.A., Straten,P.T., Mueller,L., Rees,R.C. and
            McArdle,S.E.
  TITLE     HAGE, a cancer/testis antigen with potential for melanoma
            immunotherapy: identification of several MHC class I/II
            HAGE-derived immunogenic peptides
  JOURNAL   Cancer Immunol Immunother 56 (12), 1885-1895 (2007)
   PUBMED   17487488
  REMARK    GeneRIF: HAGE is a cancer/testis antigen with potential for
            melanoma immunotherapy
REFERENCE   8  (bases 1 to 2430)
  AUTHORS   Nagel,H., Laskawi,R., Eiffert,H. and Schlott,T.
  TITLE     Analysis of the tumour suppressor genes, FHIT and WT-1, and the
            tumour rejection genes, BAGE, GAGE-1/2, HAGE, MAGE-1, and MAGE-3,
            in benign and malignant neoplasms of the salivary glands
  JOURNAL   Mol Pathol 56 (4), 226-231 (2003)
   PUBMED   12890744
REFERENCE   9  (bases 1 to 2430)
  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 2430)
  AUTHORS   Martelange,V., De Smet,C., De Plaen,E., Lurquin,C. and Boon,T.
  TITLE     Identification on a human sarcoma of two new genes with
            tumor-specific expression
  JOURNAL   Cancer Res 60 (14), 3848-3855 (2000)
   PUBMED   10919659
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA453913.1, BX646425.1,
            BC066938.1 and BQ020439.1.
            
            On Nov 22, 2018 this sequence version replaced NM_018665.2.
            
            Summary:  The protein encoded by this gene is an ATP-dependent RNA
            helicase in the DEAD-box family and displays tumor-specific
            expression. [provided by RefSeq, Jul 2008].
            
            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 :: AJ278110.1, SRR1660809.217720.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2142586
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000370336.5/ ENSP00000359361.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-6                 DA453913.1         325-330             c
            7-482               BX646425.1         20-495
            483-2212            BC066938.1         430-2159
            2213-2430           BQ020439.1         12-229              c
FEATURES             Location/Qualifiers
     source          1..2430
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q13"
     gene            1..2430
                     /gene="DDX43"
                     /gene_synonym="CT13; HAGE"
                     /note="DEAD-box helicase 43"
                     /db_xref="GeneID:55510"
                     /db_xref="HGNC:HGNC:18677"
                     /db_xref="MIM:606286"
     exon            1..328
                     /gene="DDX43"
                     /gene_synonym="CT13; HAGE"
                     /inference="alignment:Splign:2.1.0"
     CDS             79..2025
                     /gene="DDX43"
                     /gene_synonym="CT13; HAGE"
                     /EC_number="3.6.4.13"
                     /note="cancer/testis antigen 13; DEAD-box protein 43;
                     helical antigen; DEAD box protein HAGE; DEAD
                     (Asp-Glu-Ala-Asp) box polypeptide 43"
                     /codon_start=1
                     /product="probable ATP-dependent RNA helicase DDX43"
                     /protein_id="NP_061135.2"
                     /db_xref="CCDS:CCDS4977.1"
                     /db_xref="GeneID:55510"
                     /db_xref="HGNC:HGNC:18677"
                     /db_xref="MIM:606286"
                     /translation="MSHHGGAPKASTWVVASRRSSTVSRAPERRPAEELNRTGPEGYS
                     VGRGGRWRGTSRPPEAVAAGHEELPLCFALKSHFVGAVIGRGGSKIKNIQSTTNTTIQ
                     IIQEQPESLVKIFGSKAMQTKAKAVIDNFVKKLEENYNSECGIDTAFQPSVGKDGSTD
                     NNVVAGDRPLIDWDQIREEGLKWQKTKWADLPPIKKNFYKESTATSAMSKVEADSWRK
                     ENFNITWDDLKDGEKRPIPNPTCTFDDAFQCYPEVMENIKKAGFQKPTPIQSQAWPIV
                     LQGIDLIGVAQTGTGKTLCYLMPGFIHLVLQPSLKGQRNRPGMLVLTPTRELALQVEG
                     ECCKYSYKGLRSVCVYGGGNRDEQIEELKKGVDIIIATPGRLNDLQMSNFVNLKNITY
                     LVLDEADKMLDMGFEPQIMKILLDVRPDRQTVMTSATWPHSVHRLAQSYLKEPMIVYV
                     GTLDLVAVSSVKQNIIVTTEEEKWSHMQTFLQSMSSTDKVIVFVSRKAVADHLSSDLI
                     LGNISVESLHGDREQRDREKALENFKTGKVRILIATDLASRGLDVHDVTHVYNFDFPR
                     NIEEYVHRIGRTGRAGRTGVSITTLTRNDWRVASELINILERANQSIPEELVSMAERF
                     KAHQQKREMERKMERPQGRPKKFH"
     exon            329..384
                     /gene="DDX43"
                     /gene_synonym="CT13; HAGE"
                     /inference="alignment:Splign:2.1.0"
     exon            385..514
                     /gene="DDX43"
                     /gene_synonym="CT13; HAGE"
                     /inference="alignment:Splign:2.1.0"
     exon            515..646
                     /gene="DDX43"
                     /gene_synonym="CT13; HAGE"
                     /inference="alignment:Splign:2.1.0"
     exon            647..728
                     /gene="DDX43"
                     /gene_synonym="CT13; HAGE"
                     /inference="alignment:Splign:2.1.0"
     exon            729..885
                     /gene="DDX43"
                     /gene_synonym="CT13; HAGE"
                     /inference="alignment:Splign:2.1.0"
     exon            886..1004
                     /gene="DDX43"
                     /gene_synonym="CT13; HAGE"
                     /inference="alignment:Splign:2.1.0"
     exon            1005..1115
                     /gene="DDX43"
                     /gene_synonym="CT13; HAGE"
                     /inference="alignment:Splign:2.1.0"
     exon            1116..1257
                     /gene="DDX43"
                     /gene_synonym="CT13; HAGE"
                     /inference="alignment:Splign:2.1.0"
     exon            1258..1358
                     /gene="DDX43"
                     /gene_synonym="CT13; HAGE"
                     /inference="alignment:Splign:2.1.0"
     exon            1359..1446
                     /gene="DDX43"
                     /gene_synonym="CT13; HAGE"
                     /inference="alignment:Splign:2.1.0"
     exon            1447..1574
                     /gene="DDX43"
                     /gene_synonym="CT13; HAGE"
                     /inference="alignment:Splign:2.1.0"
     exon            1575..1684
                     /gene="DDX43"
                     /gene_synonym="CT13; HAGE"
                     /inference="alignment:Splign:2.1.0"
     exon            1685..1823
                     /gene="DDX43"
                     /gene_synonym="CT13; HAGE"
                     /inference="alignment:Splign:2.1.0"
     exon            1824..1911
                     /gene="DDX43"
                     /gene_synonym="CT13; HAGE"
                     /inference="alignment:Splign:2.1.0"
     exon            1912..2050
                     /gene="DDX43"
                     /gene_synonym="CT13; HAGE"
                     /inference="alignment:Splign:2.1.0"
     exon            2051..2430
                     /gene="DDX43"
                     /gene_synonym="CT13; HAGE"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2187..2192
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DDX43"
                     /gene_synonym="CT13; HAGE"
                     /note="hexamer: AATAAA"
     regulatory      2193..2198
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DDX43"
                     /gene_synonym="CT13; HAGE"
                     /note="hexamer: AATAGA"
     polyA_site      2212
                     /gene="DDX43"
                     /gene_synonym="CT13; HAGE"
                     /note="major polyA site"
     polyA_site      2215
                     /gene="DDX43"
                     /gene_synonym="CT13; HAGE"
     regulatory      2402..2407
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DDX43"
                     /gene_synonym="CT13; HAGE"
                     /note="hexamer: AATAAA"
     polyA_site      2430
                     /gene="DDX43"
                     /gene_synonym="CT13; HAGE"
ORIGIN      
        1 acgctactct tacgacgtca cggtcaggtg gtgcagagct ggacggcaac gacgtcggac
       61 gcgccccttc ttggaacaat gtcccaccac ggaggagctc ccaaggcctc tacgtgggtc
      121 gttgctagtc ggcgaagctc gacagtgtcc cgagcgccag agaggaggcc ggcggaggag
      181 ttgaatcgaa caggtcctga gggatatagt gtcggcagag gtggtcgctg gagaggcacc
      241 tctaggcccc cggaggccgt ggccgctggt cacgaggaac tgccgctgtg ttttgctttg
      301 aagagccact ttgttggcgc ggtaatcggt cgtggtgggt caaaaataaa gaatatacaa
      361 agtacaacaa acaccacaat ccaaataata caagaacaac cagaatcatt agtcaaaatt
      421 tttggcagca aggcaatgca aacgaaagca aaagcagtga tagacaattt tgttaaaaag
      481 ctagaagaaa attacaattc agaatgcgga attgatactg cattccaacc ttctgttgga
      541 aaagatggaa gcacagataa caatgttgtt gcaggagatc ggccattgat agattgggat
      601 caaattagag aggaaggttt gaaatggcaa aaaacaaagt gggcagattt accaccaatt
      661 aagaaaaact tttataaaga gtccactgcc acaagtgcca tgtcaaaagt agaagcagat
      721 agttggagga aagaaaattt taatataacg tgggatgact tgaaggatgg ggagaaacga
      781 cctatcccca atcctacctg cacatttgat gacgcctttc aatgttatcc tgaggttatg
      841 gaaaacatta aaaaggcagg ttttcaaaag ccaacaccta ttcagtcaca ggcatggccc
      901 attgtgttgc aaggaataga tcttatagga gtagcccaga ctggaacagg aaagacattg
      961 tgttatttaa tgcctggatt tattcatctg gtccttcaac ccagccttaa aggtcaaagg
     1021 aatagacccg gcatgttagt tctaactccc actcgggaat tagcacttca agtagaagga
     1081 gaatgttgca aatattcata taaagggctt cggagtgttt gtgtatatgg tggtggaaat
     1141 agagatgaac aaatagaaga gcttaaaaaa ggtgtagata tcataattgc aactcccgga
     1201 agattgaatg atctgcaaat gagtaacttc gtcaatctga agaatataac ctacttggtt
     1261 ttagatgaag cagacaagat gttggacatg ggatttgaac cccagataat gaagattttg
     1321 ttagatgtgc gcccagatag gcagacagtt atgaccagtg ctacatggcc tcattcagtt
     1381 catcgcctcg cacaatctta tttgaaagaa ccaatgattg tctatgttgg tacattggat
     1441 ctagttgctg taagttcagt gaagcaaaat ataattgtaa ccaccgagga agagaaatgg
     1501 agtcacatgc aaacttttct acagagtatg tcatccacag acaaagtcat tgtcttcgtt
     1561 tctcgaaaag ctgttgcgga tcacttatca agtgacctaa tacttggaaa tatatcagta
     1621 gagtctctgc atggagatag agaacagaga gatcgggaga aagcattaga gaactttaaa
     1681 acaggcaaag tgagaatact aattgcaact gatctagcct ctagaggact tgatgtccat
     1741 gacgttacac atgtctataa ttttgacttt ccacggaata ttgaagaata cgtacaccga
     1801 atagggcgca cgggaagagc agggaggact ggtgtttcca ttacaacttt gactagaaat
     1861 gattggaggg ttgcctctga attgattaat attctggaaa gagcaaatca gagtattcca
     1921 gaggagcttg tatcaatggc tgagaggttt aaggcacatc aacagaaaag ggaaatggaa
     1981 agaaaaatgg aaagacctca aggaaggccc aagaagtttc attaatgtct tctgtactag
     2041 tggggtagag aattcaagat tttttagaaa tatagtaaga cggaagtatt ggacatgttg
     2101 gcagtatgaa gagaccggac tgatttgact gattcttaaa ataatagtgt ttgaaaatat
     2161 agaatccagt gttttatact ttctttaata aaaatagaag tatttaaact tggaagttgt
     2221 ttcctggatt tttattaagg agtgtagcat tagaatgttt ttcttttaat cttttaaact
     2281 gtctcctgta attttgctgt atgtcataag gccagtcttt cagaatttaa tgttcagatt
     2341 ttgtcatggc agtgaaaaag atgttttcaa acaaagaatc agcacctgaa aaaatactgt
     2401 taataaatgt tcgtttctgt gataaaaaga
//
