LOCUS       NM_030653               3920 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens DEAD/H-box helicase 11 (DDX11), transcript variant 1,
            mRNA.
ACCESSION   NM_030653
VERSION     NM_030653.4
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 3920)
  AUTHORS   Yang,G., Shi,X., Zhang,M., Wang,K., Tian,X. and Wang,X.
  TITLE     DEAD/H-box helicase 11 is transcriptionally activated by Yin Yang-1
            and accelerates oral squamous cell carcinoma progression
  JOURNAL   Cell Biol Int 48 (11), 1731-1742 (2024)
   PUBMED   39090819
  REMARK    GeneRIF: DEAD/H-box helicase 11 is transcriptionally activated by
            Yin Yang-1 and accelerates oral squamous cell carcinoma
            progression.
REFERENCE   2  (bases 1 to 3920)
  AUTHORS   Amitzi,L., Cozma,E., Tong,A.H.Y., Chan,K., Ross,C., O'Neil,N.,
            Moffat,J., Stirling,P. and Hieter,P.
  TITLE     Mapping of DDX11 genetic interactions defines sister chromatid
            cohesion as the major dependency
  JOURNAL   G3 (Bethesda) 14 (5) (2024)
   PUBMED   38478595
  REMARK    GeneRIF: Mapping of DDX11 genetic interactions defines sister
            chromatid cohesion as the major dependency.
REFERENCE   3  (bases 1 to 3920)
  AUTHORS   Zhou,Y.L., Zhao,M.Y., Gale,R.P., Jiang,H., Jiang,Q., Liu,L.X.,
            Qin,J.Y., Cao,S.B., Lou,F., Xu,L.P., Zhang,X.H., Huang,X.J. and
            Ruan,G.R.
  TITLE     Mutations in DEAD/H-box helicase 11 correlate with increased
            relapse risk in adults with acute myeloid leukaemia with normal
            cytogenetics
  JOURNAL   Leukemia 38 (1), 223-225 (2024)
   PUBMED   37993668
  REMARK    GeneRIF: Mutations in DEAD/H-box helicase 11 correlate with
            increased relapse risk in adults with acute myeloid leukaemia with
            normal cytogenetics.
REFERENCE   4  (bases 1 to 3920)
  AUTHORS   Qin,Y., Huttlin,E.L., Winsnes,C.F., Gosztyla,M.L., Wacheul,L.,
            Kelly,M.R., Blue,S.M., Zheng,F., Chen,M., Schaffer,L.V., Licon,K.,
            Backstrom,A., Vaites,L.P., Lee,J.J., Ouyang,W., Liu,S.N., Zhang,T.,
            Silva,E., Park,J., Pitea,A., Kreisberg,J.F., Gygi,S.P., Ma,J.,
            Harper,J.W., Yeo,G.W., Lafontaine,D.L.J., Lundberg,E. and Ideker,T.
  TITLE     A multi-scale map of cell structure fusing protein images and
            interactions
  JOURNAL   Nature 600 (7889), 536-542 (2021)
   PUBMED   34819669
REFERENCE   5  (bases 1 to 3920)
  AUTHORS   Saeed,M., Ibanez-Costa,A., Patino-Trives,A.M., Munoz-Barrera,L.,
            Collantes Estevez,E., Aguirre,M.A. and Lopez-Pedrera,C.
  TITLE     Expression of DDX11 and DNM1L at the 12p11 Locus Modulates Systemic
            Lupus Erythematosus Susceptibility
  JOURNAL   Int J Mol Sci 22 (14), 7624 (2021)
   PUBMED   34299244
  REMARK    GeneRIF: Expression of DDX11 and DNM1L at the 12p11 Locus Modulates
            Systemic Lupus Erythematosus Susceptibility.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3920)
  AUTHORS   Amann,J., Kidd,V.J. and Lahti,J.M.
  TITLE     Characterization of putative human homologues of the yeast
            chromosome transmission fidelity gene, CHL1
  JOURNAL   J Biol Chem 272 (6), 3823-3832 (1997)
   PUBMED   9013641
REFERENCE   7  (bases 1 to 3920)
  AUTHORS   Frank,S. and Werner,S.
  TITLE     The human homologue of the yeast CHL1 gene is a novel keratinocyte
            growth factor-regulated gene
  JOURNAL   J Biol Chem 271 (40), 24337-24340 (1996)
   PUBMED   8798685
REFERENCE   8  (bases 1 to 3920)
  AUTHORS   Amann,J., Valentine,M., Kidd,V.J. and Lahti,J.M.
  TITLE     Localization of chi1-related helicase genes to human chromosome
            regions 12p11 and 12p13: similarity between parts of these genes
            and conserved human telomeric-associated DNA
  JOURNAL   Genomics 32 (2), 260-265 (1996)
   PUBMED   8833153
REFERENCE   9  (bases 1 to 3920)
  AUTHORS   Baens,M., Aerssens,J., van Zand,K., Van den Berghe,H. and
            Marynen,P.
  TITLE     Isolation and regional assignment of human chromosome 12p cDNAs
  JOURNAL   Genomics 29 (1), 44-52 (1995)
   PUBMED   8530100
REFERENCE   10 (bases 1 to 3920)
  AUTHORS   Alkhunaizi,E., Brosh,R.M. Jr., Alkuraya,F.S. and Chitayat,D.
  TITLE     Warsaw Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   31169992
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC111733.1, BC011264.1 and
            AC008013.8.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_030653.3.
            
            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 this family
            are believed to be involved in embryogenesis, spermatogenesis, and
            cellular growth and division. This gene encodes a DEAD box protein,
            which is an enzyme that possesses both ATPase and DNA helicase
            activities. This gene is a homolog of the yeast CHL1 gene, and may
            function to maintain chromosome transmission fidelity and genome
            stability. Alternative splicing results in multiple transcript
            variants encoding distinct isoforms. [provided by RefSeq, Jul
            2008].
            
            Transcript Variant: This variant (1) uses an alternate splice
            junction at a coding exon compared to variant 3, that results in a
            frameshift. The resulting isoform (1) is shorter and has a distinct
            C-terminus compared to isoform 3. Variants 1 and 6-8 all encode the
            same 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 :: SRR1660805.227685.1,
                                           SRR1660803.85799.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000542838.6/ ENSP00000443426.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1765              BC111733.1         16-1780
            1766-2693           BC011264.1         1746-2673
            2694-2807           BC111733.1         2709-2822
            2808-3912           BC011264.1         2783-3887
            3913-3920           AC008013.8         150584-150591
FEATURES             Location/Qualifiers
     source          1..3920
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p11.21"
     gene            1..3920
                     /gene="DDX11"
                     /gene_synonym="CHL1; CHLR1; KRG2; WABS"
                     /note="DEAD/H-box helicase 11"
                     /db_xref="GeneID:1663"
                     /db_xref="HGNC:HGNC:2736"
                     /db_xref="MIM:601150"
     exon            1..232
                     /gene="DDX11"
                     /gene_synonym="CHL1; CHLR1; KRG2; WABS"
                     /inference="alignment:Splign:2.1.0"
     exon            233..380
                     /gene="DDX11"
                     /gene_synonym="CHL1; CHLR1; KRG2; WABS"
                     /inference="alignment:Splign:2.1.0"
     CDS             237..2957
                     /gene="DDX11"
                     /gene_synonym="CHL1; CHLR1; KRG2; WABS"
                     /EC_number="5.6.2.3"
                     /note="isoform 1 is encoded by transcript variant 1;
                     DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (CHL1-like
                     helicase homolog, S. cerevisiae); probable ATP-dependent
                     RNA helicase DDX11; CHL1-related helicase gene-1; DEAD/H
                     (Asp-Glu-Ala-Asp/His) box helicase 11; KRG-2; hCHLR1;
                     DEAD/H box protein 11; CHL1-related protein 1;
                     keratinocyte growth factor-regulated gene 2 protein;
                     probable ATP-dependent DNA helicase DDX11; DNA 5'-3'
                     helicase DDX11"
                     /codon_start=1
                     /product="ATP-dependent DNA helicase DDX11 isoform 1"
                     /protein_id="NP_085911.2"
                     /db_xref="CCDS:CCDS41767.1"
                     /db_xref="GeneID:1663"
                     /db_xref="HGNC:HGNC:2736"
                     /db_xref="MIM:601150"
                     /translation="MANETQKVGAIHFPFPFTPYSIQEDFMAELYRVLEAGKIGIFES
                     PTGTGKSLSLICGALSWLRDFEQKKREEEARLLETGTGPLHDEKDESLCLSSSCEGAA
                     GTPRPAGEPAWVTQFVQKKEERDLVDRLKAEQARRKQREERLQQLQHRVQLKYAAKRL
                     RQEEEERENLLRLSREMLETGPEAERLEQLESGEEELVLAEYESDEEKKVASRVDEDE
                     DDLEEEHITKIYYCSRTHSQLAQFVHEVKKSPFGKDVRLVSLGSRQNLCVNEDVKSLG
                     SVQLINDRCVDMQRSRHEKKKGAEEEKPKRRRQEKQAACPFYNHEQMGLLRDEALAEV
                     KDMEQLLALGKEARACPYYGSRLAIPAAQLVVLPYQMLLHAATRQAAGIRLQDQVVII
                     DEAHNLIDTITGMHSVEVSGSQLCQAHSQLLQYVERYGKRLKAKNLMYLKQILYLLEK
                     FVAVLGGNIKQNPNTQSLSQTGTELKTINDFLFQSQIDNINLFKVQRYCEKSMISRKL
                     FGFTERYGAVFSSREQPKLAGFQQFLQSLQPRTTEALAAPADESQASTLRPASPLMHI
                     QGFLAALTTANQDGRVILSRQGSLSQSTLKFLLLNPAVHFAQVVKECRAVVIAGGTMQ
                     PVSDFRQQLLACAGVEAERVVEFSCGHVIPPDNILPLVICSGISNQPLEFTFQKRELP
                     QMMDEVGRILCNLCGVVPGGVVCFFPSYEYLRQVHAHWEKGGLLGRLAARKKIFQEPK
                     SAHQVEQVLLAYSRCIQACGQERGQVTGALLLSVVGGKMSEGINFSDNLGRCVVMVGM
                     PFPNIRSAELQEKMAYLDQTLPRAPGQAPPGKALVENLCMKAVNQSIGRAIRHQKDFA
                     SVVLLDQRYARPPVLAKLPAWIRARVEVKATFGPAIAAVQKFHREKSASS"
     exon            381..629
                     /gene="DDX11"
                     /gene_synonym="CHL1; CHLR1; KRG2; WABS"
                     /inference="alignment:Splign:2.1.0"
     exon            630..716
                     /gene="DDX11"
                     /gene_synonym="CHL1; CHLR1; KRG2; WABS"
                     /inference="alignment:Splign:2.1.0"
     exon            717..874
                     /gene="DDX11"
                     /gene_synonym="CHL1; CHLR1; KRG2; WABS"
                     /inference="alignment:Splign:2.1.0"
     exon            875..920
                     /gene="DDX11"
                     /gene_synonym="CHL1; CHLR1; KRG2; WABS"
                     /inference="alignment:Splign:2.1.0"
     exon            921..1028
                     /gene="DDX11"
                     /gene_synonym="CHL1; CHLR1; KRG2; WABS"
                     /inference="alignment:Splign:2.1.0"
     exon            1029..1116
                     /gene="DDX11"
                     /gene_synonym="CHL1; CHLR1; KRG2; WABS"
                     /inference="alignment:Splign:2.1.0"
     exon            1117..1325
                     /gene="DDX11"
                     /gene_synonym="CHL1; CHLR1; KRG2; WABS"
                     /inference="alignment:Splign:2.1.0"
     exon            1326..1478
                     /gene="DDX11"
                     /gene_synonym="CHL1; CHLR1; KRG2; WABS"
                     /inference="alignment:Splign:2.1.0"
     exon            1479..1525
                     /gene="DDX11"
                     /gene_synonym="CHL1; CHLR1; KRG2; WABS"
                     /inference="alignment:Splign:2.1.0"
     exon            1526..1605
                     /gene="DDX11"
                     /gene_synonym="CHL1; CHLR1; KRG2; WABS"
                     /inference="alignment:Splign:2.1.0"
     exon            1606..1650
                     /gene="DDX11"
                     /gene_synonym="CHL1; CHLR1; KRG2; WABS"
                     /inference="alignment:Splign:2.1.0"
     exon            1651..1718
                     /gene="DDX11"
                     /gene_synonym="CHL1; CHLR1; KRG2; WABS"
                     /inference="alignment:Splign:2.1.0"
     exon            1719..1757
                     /gene="DDX11"
                     /gene_synonym="CHL1; CHLR1; KRG2; WABS"
                     /inference="alignment:Splign:2.1.0"
     exon            1758..1866
                     /gene="DDX11"
                     /gene_synonym="CHL1; CHLR1; KRG2; WABS"
                     /inference="alignment:Splign:2.1.0"
     exon            1867..1998
                     /gene="DDX11"
                     /gene_synonym="CHL1; CHLR1; KRG2; WABS"
                     /inference="alignment:Splign:2.1.0"
     exon            1999..2111
                     /gene="DDX11"
                     /gene_synonym="CHL1; CHLR1; KRG2; WABS"
                     /inference="alignment:Splign:2.1.0"
     exon            2112..2184
                     /gene="DDX11"
                     /gene_synonym="CHL1; CHLR1; KRG2; WABS"
                     /inference="alignment:Splign:2.1.0"
     exon            2185..2288
                     /gene="DDX11"
                     /gene_synonym="CHL1; CHLR1; KRG2; WABS"
                     /inference="alignment:Splign:2.1.0"
     exon            2289..2438
                     /gene="DDX11"
                     /gene_synonym="CHL1; CHLR1; KRG2; WABS"
                     /inference="alignment:Splign:2.1.0"
     exon            2439..2507
                     /gene="DDX11"
                     /gene_synonym="CHL1; CHLR1; KRG2; WABS"
                     /inference="alignment:Splign:2.1.0"
     exon            2508..2608
                     /gene="DDX11"
                     /gene_synonym="CHL1; CHLR1; KRG2; WABS"
                     /inference="alignment:Splign:2.1.0"
     exon            2609..2693
                     /gene="DDX11"
                     /gene_synonym="CHL1; CHLR1; KRG2; WABS"
                     /inference="alignment:Splign:2.1.0"
     exon            2694..2772
                     /gene="DDX11"
                     /gene_synonym="CHL1; CHLR1; KRG2; WABS"
                     /inference="alignment:Splign:2.1.0"
     exon            2773..2927
                     /gene="DDX11"
                     /gene_synonym="CHL1; CHLR1; KRG2; WABS"
                     /inference="alignment:Splign:2.1.0"
     exon            2928..3920
                     /gene="DDX11"
                     /gene_synonym="CHL1; CHLR1; KRG2; WABS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3892..3897
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DDX11"
                     /gene_synonym="CHL1; CHLR1; KRG2; WABS"
                     /note="hexamer: AATAAA"
     polyA_site      3920
                     /gene="DDX11"
                     /gene_synonym="CHL1; CHLR1; KRG2; WABS"
                     /note="major polyA site"
ORIGIN      
        1 gttgttccgg ctgcctttca ctgaggggac ccgccagttt ctaactcagt ggcgtttgcc
       61 ctgattcccg gggcctggct ttcagcgtag caattctgcc ggcgaagaag gtgagcgcag
      121 tgctgtgtgg cagcagagct ccttaggacg aggagcagcg ggacgaggaa gggcagactg
      181 gtgaaatcgc aaactgggcg tctgttccgg cgccggaccc ctatttgcaa aggtccatgg
      241 ctaatgaaac acagaaggtt ggtgccatcc attttccttt tcccttcaca ccctattcca
      301 tccaggaaga cttcatggca gagctgtacc gggttttgga ggctggcaag attgggatat
      361 ttgagagtcc aactggcact gggaagtcct taagtcttat ttgtggggcc ctctcttggc
      421 tccgtgactt tgaacagaag aagcgtgaag aagaggcacg actccttgaa actggaactg
      481 gccccttaca tgatgagaaa gatgaatccc tgtgtctgtc ttcttcctgc gaaggggctg
      541 caggcacccc gaggcctgct ggagaaccgg cctgggttac tcagtttgtg cagaagaaag
      601 aagagaggga cctggtggac cgactaaagg cggagcaggc caggaggaag cagcgagaag
      661 aacgcctgca gcagctgcag cacagggtgc agctcaagta tgcagccaag cgcctgaggc
      721 aggaagaaga agaaagagag aatctcctcc gcctcagcag ggagatgcta gagacaggcc
      781 cggaggctga gcggctggag cagctggagt ctggggagga ggagctggtc ctcgccgaat
      841 acgagagtga tgaggagaaa aaggtggcga gcagagtgga tgaggatgag gatgacctgg
      901 aggaagaaca cataactaag atttattact gtagtcggac acactcccag ctggcccagt
      961 ttgtgcatga ggtgaagaag agcccctttg gcaaggatgt tcggctggtc tcccttggct
     1021 cccggcagaa cctttgtgta aatgaagacg tgaaaagcct aggttctgtg cagcttatca
     1081 acgaccgctg tgtggacatg cagagaagca ggcacgagaa gaagaaagga gctgaggagg
     1141 agaagccaaa gaggaggagg caggagaagc aggcagcctg ccccttctac aaccacgagc
     1201 agatgggcct tctccgggat gaggccctgg cagaggtgaa ggacatggag cagctgctgg
     1261 cccttgggaa ggaggcccgg gcctgtccct attacgggag ccgccttgcc atccctgcag
     1321 cccagctggt ggtgctgccc tatcagatgc tgctgcatgc ggccactcgg caggccgcgg
     1381 gcatccggct gcaggaccag gtggtgatca tcgacgaggc gcacaacctg atcgacacca
     1441 tcacgggcat gcacagcgtg gaggtcagcg gctcccagct ctgccaggcc cattcccagc
     1501 tgctgcagta cgtggagcga tacgggaagc gtttgaaggc caagaacctg atgtacctga
     1561 agcagatcct gtatttgctg gagaaattcg tggctgtgct aggggggaac attaagcaaa
     1621 atcccaatac acagagtctg tcacagacag ggacggagct gaagaccatc aacgactttc
     1681 tcttccagag ccagatcgac aacatcaacc tgttcaaggt gcagcgatac tgtgagaaga
     1741 gcatgatcag cagaaagctc tttggattca ctgaacggta cggagcagtg ttctcatccc
     1801 gggagcagcc caaactggct gggtttcagc aattcctgca gagcctgcag cccaggacga
     1861 ctgaagctct tgcagcccct gcagacgaga gtcaggccag caccctgcga ccagcttctc
     1921 cactgatgca catccaaggc ttcctggcag ctctcactac ggccaaccag gacggcaggg
     1981 tcatcctgag ccgccaaggc agcctcagtc agagcaccct gaagtttttg ctcctgaatc
     2041 cagctgtgca ctttgcccaa gtggtgaagg aatgccgggc agtggtcatt gcggggggta
     2101 ccatgcagcc ggtgtctgac ttccggcagc agctgctggc ctgtgccggg gtggaagctg
     2161 agcgcgtggt ggagttttcc tgtggtcacg tgatccctcc agacaacatc ctgcccctcg
     2221 tcatctgcag cgggatctcc aaccagccgc tggaattcac gttccagaaa agagagctgc
     2281 ctcagatgat ggacgaggtg ggtcgcattc tctgtaacct gtgcggtgtg gttcctggag
     2341 gggtggtctg tttcttcccc tcctacgagt acctgcgcca ggtccatgcc cactgggaga
     2401 agggtggcct gctgggccgt ctggctgcca ggaagaagat attccaggaa cctaagagcg
     2461 cacaccaggt ggagcaggtg ctgctggcat attccaggtg catccaggcc tgtggccagg
     2521 agagaggcca ggtgacaggg gccctgctcc tctctgtggt tggaggaaag atgagtgaag
     2581 ggatcaactt ctctgacaac ctaggccggt gtgtggtgat ggtgggcatg cccttcccca
     2641 acatcaggtc tgcagagctg caggagaaga tggcctactt ggatcaaacc ctccccagag
     2701 cccccggcca ggcaccccca gggaaggctc tggtggagaa cctgtgcatg aaggccgtca
     2761 accagtccat aggcagggcc atcaggcacc agaaggattt tgccagcgta gtgctcctgg
     2821 accagcgata tgcccggccc cctgtcctgg ccaagctgcc ggcctggatc cgagcccgtg
     2881 tggaggtcaa agctaccttt ggccccgcca ttgctgctgt gcagaagttt caccgggaga
     2941 agtcggcctc ttcctgatgg gcaaccacac cactgcctgg cgccgtgccc ttcctttgtc
     3001 ctgcccgctg gagacagtgt ttgtcgtggg cgtggtctgc ggggatcctg ttacaaaggt
     3061 gaaacccagg aggagagtgt ggagtccaga gtgctgccag gacccaggca caggcgttag
     3121 ctcccgtagg agaaaatggg ggaatcctga atgaacagtg ggtcctggct gtccttgggg
     3181 cgttccaggg cagctcccct cctggaatag aatctttctt tccatcctgc atggctgaga
     3241 gccaggcttc cttcctggtc tccgcaggag gctgtggcag ctgtggcatc cactgtggca
     3301 tctccgtcct gcccaccttc ttaagaggcg agatggagca ggcccatctg cctctgccct
     3361 ttctagccaa ggttatagct gccctggact gctcactctc tggtctcaat ttaaaatgat
     3421 ccatggccac agggctcctg cccaggggct tgtcaccttc ccctcctcct tcctgagtca
     3481 ctccttcagt agaaggccct gctccctatc ctgtcccaca gccctgcctg gatttgtatc
     3541 cttggcttcg tgccagttcc tccaagtcta tggcacctcc ctccctctca accacttgag
     3601 caaactccaa gacaccttct accccaacac cagcaattat gccaagggcc gttaggctct
     3661 caacatgact atagagaccc cgtgtcatca cggagacctt tgttcctgtg ggaaaatatc
     3721 cctcccacct gcaacagctg cccctgctga ctgcgcctgt cttctccctc tgaccccaga
     3781 gaaaggggct gtggtcagct gggatcttct gccaccatca gggacaaacg ggggcaggag
     3841 gaaagtcact gatgcccaga tgtttgcatc ctgcacagct ataggtcctt aaataaaagt
     3901 gtgctgttgg tttctgctga
//
