LOCUS       NM_016222               2099 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens DEAD-box helicase 41 (DDX41), transcript variant 1,
            mRNA.
ACCESSION   NM_016222
VERSION     NM_016222.4
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 2099)
  AUTHORS   Matsui,H. and Hirata,M.
  TITLE     Evaluation of the pathogenic potential of germline DDX41 variants
            in hematopoietic neoplasms using the ACMG/AMP guidelines
  JOURNAL   Int J Hematol 119 (5), 552-563 (2024)
   PUBMED   38492200
  REMARK    GeneRIF: Evaluation of the pathogenic potential of germline DDX41
            variants in hematopoietic neoplasms using the ACMG/AMP guidelines.
            Review article
REFERENCE   2  (bases 1 to 2099)
  AUTHORS   Osterhoudt,K., Bagno,O., Katzman,S. and Zahler,A.M.
  TITLE     Spliceosomal helicases DDX41/SACY-1 and PRP22/MOG-5 both contribute
            to proofreading against proximal 3' splice site usage
  JOURNAL   RNA 30 (4), 404-417 (2024)
   PUBMED   38282418
  REMARK    GeneRIF: Spliceosomal helicases DDX41/SACY-1 and PRP22/MOG-5 both
            contribute to proofreading against proximal 3' splice site usage.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2099)
  AUTHORS   Maierhofer,A., Mehta,N., Chisholm,R.A., Hutter,S., Baer,C.,
            Nadarajah,N., Pohlkamp,C., Thompson,E.R., James,P.A., Kern,W.,
            Haferlach,C., Meggendorfer,M., Haferlach,T. and Blombery,P.
  TITLE     The clinical and genomic landscape of patients with DDX41 variants
            identified during diagnostic sequencing
  JOURNAL   Blood Adv 7 (23), 7346-7357 (2023)
   PUBMED   37874914
  REMARK    GeneRIF: The clinical and genomic landscape of patients with DDX41
            variants identified during diagnostic sequencing.
REFERENCE   4  (bases 1 to 2099)
  AUTHORS   Chlon,T.M. and Patnaik,M.M.
  TITLE     Germline DDX41 mutant predisposition syndromes: Slow driver states
            to hematological malignancies
  JOURNAL   Am J Hematol 98 (11), 1673-1676 (2023)
   PUBMED   37705260
  REMARK    GeneRIF: Germline DDX41 mutant predisposition syndromes: Slow
            driver states to hematological malignancies.
REFERENCE   5  (bases 1 to 2099)
  AUTHORS   Cheloor Kovilakam,S., Gu,M., Dunn,W.G., Marando,L., Barcena,C.,
            Nik-Zainal,S., Mohorianu,I., Kar,S.P., Fabre,M.A., Quiros,P.M. and
            Vassiliou,G.S.
  TITLE     Prevalence and significance of DDX41 gene variants in the general
            population
  JOURNAL   Blood 142 (14), 1185-1192 (2023)
   PUBMED   37506341
  REMARK    GeneRIF: Prevalence and significance of DDX41 gene variants in the
            general population.
REFERENCE   6  (bases 1 to 2099)
  AUTHORS   Parvatiyar,K., Zhang,Z., Teles,R.M., Ouyang,S., Jiang,Y.,
            Iyer,S.S., Zaver,S.A., Schenk,M., Zeng,S., Zhong,W., Liu,Z.J.,
            Modlin,R.L., Liu,Y.J. and Cheng,G.
  TITLE     The helicase DDX41 recognizes the bacterial secondary messengers
            cyclic di-GMP and cyclic di-AMP to activate a type I interferon
            immune response
  JOURNAL   Nat Immunol 13 (12), 1155-1161 (2012)
   PUBMED   23142775
  REMARK    GeneRIF: results suggest a mechanism whereby c-di-GMP and c-di-AMP
            are detected by DDX41, which forms a complex with STING to signal
            to TBK1-IRF3 and activate the interferon response
REFERENCE   7  (bases 1 to 2099)
  AUTHORS   Zhang,Z., Yuan,B., Bao,M., Lu,N., Kim,T. and Liu,Y.J.
  TITLE     The helicase DDX41 senses intracellular DNA mediated by the adaptor
            STING in dendritic cells
  JOURNAL   Nat Immunol 12 (10), 959-965 (2011)
   PUBMED   21892174
  REMARK    GeneRIF: DDX41 is an additional DNA sensor that depends on STING to
            sense pathogenic DNA.
            Erratum:[Nat Immunol. 2012 Feb;13(2):196]
            Publication Status: Online-Only
REFERENCE   8  (bases 1 to 2099)
  AUTHORS   Abdul-Ghani,M., Hartman,K.L. and Ngsee,J.K.
  TITLE     Abstrakt interacts with and regulates the expression of sorting
            nexin-2
  JOURNAL   J Cell Physiol 204 (1), 210-218 (2005)
   PUBMED   15690390
  REMARK    GeneRIF: The N-terminal domain of Abs interacts with the phox
            homology (PX) domain of SNX2 suggesting that PX domains may also
            participate in protein-protein interaction.
REFERENCE   9  (bases 1 to 2099)
  AUTHORS   Irion,U. and Leptin,M.
  TITLE     Developmental and cell biological functions of the Drosophila
            DEAD-box protein abstrakt
  JOURNAL   Curr Biol 9 (23), 1373-1381 (1999)
   PUBMED   10607561
REFERENCE   10 (bases 1 to 2099)
  AUTHORS   Churpek,J.E. and Smith-Simmer,K.
  TITLE     DDX41-Associated Familial Myelodysplastic Syndrome and Acute
            Myeloid Leukemia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   34723452
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC145098.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_016222.3.
            
            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. The protein
            encoded by this gene is a member of the DEAD box protein family and
            interacts with several spliceosomal proteins. In addition, the
            encoded protein may recognize the bacterial second messengers
            cyclic di-GMP and cyclic di-AMP, resulting in the induction of
            genes involved in the innate immune response. [provided by RefSeq,
            Jan 2017].
            
            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 :: BC015476.1, SRR3476690.450524.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000330503.12/ ENSP00000330349.8
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-43                AC145098.2         154099-154141       c
            44-154              AC145098.2         153905-154015       c
            155-314             AC145098.2         153468-153627       c
            315-389             AC145098.2         153299-153373       c
            390-450             AC145098.2         153109-153169       c
            451-587             AC145098.2         152865-153001       c
            588-660             AC145098.2         152366-152438       c
            661-814             AC145098.2         152096-152249       c
            815-951             AC145098.2         151881-152017       c
            952-1114            AC145098.2         150865-151027       c
            1115-1246           AC145098.2         150533-150664       c
            1247-1318           AC145098.2         150191-150262       c
            1319-1415           AC145098.2         149960-150056       c
            1416-1565           AC145098.2         149676-149825       c
            1566-1637           AC145098.2         149502-149573       c
            1638-1748           AC145098.2         149276-149386       c
            1749-2099           AC145098.2         148757-149107       c
FEATURES             Location/Qualifiers
     source          1..2099
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q35.3"
     gene            1..2099
                     /gene="DDX41"
                     /gene_synonym="ABS; MPLPF"
                     /note="DEAD-box helicase 41"
                     /db_xref="GeneID:51428"
                     /db_xref="HGNC:HGNC:18674"
                     /db_xref="MIM:608170"
     exon            1..43
                     /gene="DDX41"
                     /gene_synonym="ABS; MPLPF"
                     /inference="alignment:Splign:2.1.0"
     CDS             17..1885
                     /gene="DDX41"
                     /gene_synonym="ABS; MPLPF"
                     /EC_number="3.6.4.13"
                     /note="isoform 1 is encoded by transcript variant 1;
                     putative RNA helicase; DEAD-box protein abstrakt; probable
                     ATP-dependent RNA helicase DDX41; DEAD box protein 41;
                     DEAD box protein abstrakt homolog; DEAD (Asp-Glu-Ala-Asp)
                     box polypeptide 41; Abstrakt"
                     /codon_start=1
                     /product="probable ATP-dependent RNA helicase DDX41
                     isoform 1"
                     /protein_id="NP_057306.2"
                     /db_xref="CCDS:CCDS4427.1"
                     /db_xref="GeneID:51428"
                     /db_xref="HGNC:HGNC:18674"
                     /db_xref="MIM:608170"
                     /translation="MEESEPERKRARTDEVPAGGSRSEAEDEDDEDYVPYVPLRQRRQ
                     LLLQKLLQRRRKGAAEEEQQDSGSEPRGDEDDIPLGPQSNVSLLDQHQHLKEKAEARK
                     ESAKEKQLKEEEKILESVAEGRALMSVKEMAKGITYDDPIKTSWTPPRYVLSMSEERH
                     ERVRKKYHILVEGDGIPPPIKSFKEMKFPAAILRGLKKKGIHHPTPIQIQGIPTILSG
                     RDMIGIAFTGSGKTLVFTLPVIMFCLEQEKRLPFSKREGPYGLIICPSRELARQTHGI
                     LEYYCRLLQEDSSPLLRCALCIGGMSVKEQMETIRHGVHMMVATPGRLMDLLQKKMVS
                     LDICRYLALDEADRMIDMGFEGDIRTIFSYFKGQRQTLLFSATMPKKIQNFAKSALVK
                     PVTINVGRAGAASLDVIQEVEYVKEEAKMVYLLECLQKTPPPVLIFAEKKADVDAIHE
                     YLLLKGVEAVAIHGGKDQEERTKAIEAFREGKKDVLVATDVASKGLDFPAIQHVINYD
                     MPEEIENYVHRIGRTGRSGNTGIATTFINKACDESVLMDLKALLLEAKQKVPPVLQVL
                     HCGDESMLDIGGERGCAFCGGLGHRITDCPKLEAMQTKQVSNIGRKDYLAHSSMDF"
     exon            44..154
                     /gene="DDX41"
                     /gene_synonym="ABS; MPLPF"
                     /inference="alignment:Splign:2.1.0"
     exon            155..314
                     /gene="DDX41"
                     /gene_synonym="ABS; MPLPF"
                     /inference="alignment:Splign:2.1.0"
     exon            315..389
                     /gene="DDX41"
                     /gene_synonym="ABS; MPLPF"
                     /inference="alignment:Splign:2.1.0"
     exon            390..450
                     /gene="DDX41"
                     /gene_synonym="ABS; MPLPF"
                     /inference="alignment:Splign:2.1.0"
     exon            451..587
                     /gene="DDX41"
                     /gene_synonym="ABS; MPLPF"
                     /inference="alignment:Splign:2.1.0"
     exon            588..660
                     /gene="DDX41"
                     /gene_synonym="ABS; MPLPF"
                     /inference="alignment:Splign:2.1.0"
     exon            661..814
                     /gene="DDX41"
                     /gene_synonym="ABS; MPLPF"
                     /inference="alignment:Splign:2.1.0"
     exon            815..951
                     /gene="DDX41"
                     /gene_synonym="ABS; MPLPF"
                     /inference="alignment:Splign:2.1.0"
     exon            952..1114
                     /gene="DDX41"
                     /gene_synonym="ABS; MPLPF"
                     /inference="alignment:Splign:2.1.0"
     exon            1115..1246
                     /gene="DDX41"
                     /gene_synonym="ABS; MPLPF"
                     /inference="alignment:Splign:2.1.0"
     exon            1247..1318
                     /gene="DDX41"
                     /gene_synonym="ABS; MPLPF"
                     /inference="alignment:Splign:2.1.0"
     exon            1319..1415
                     /gene="DDX41"
                     /gene_synonym="ABS; MPLPF"
                     /inference="alignment:Splign:2.1.0"
     exon            1416..1565
                     /gene="DDX41"
                     /gene_synonym="ABS; MPLPF"
                     /inference="alignment:Splign:2.1.0"
     exon            1566..1637
                     /gene="DDX41"
                     /gene_synonym="ABS; MPLPF"
                     /inference="alignment:Splign:2.1.0"
     exon            1638..1748
                     /gene="DDX41"
                     /gene_synonym="ABS; MPLPF"
                     /inference="alignment:Splign:2.1.0"
     exon            1749..2099
                     /gene="DDX41"
                     /gene_synonym="ABS; MPLPF"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2076..2081
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DDX41"
                     /gene_synonym="ABS; MPLPF"
                     /note="hexamer: ATTAAA"
     polyA_site      2099
                     /gene="DDX41"
                     /gene_synonym="ABS; MPLPF"
                     /note="major polyA site"
ORIGIN      
        1 atgcgtgcag caaagaatgg aggagtcgga acccgaacgg aagcgggctc gcaccgacga
       61 ggtgcctgcc ggaggaagcc gctccgaggc ggaagatgag gacgacgagg actacgtgcc
      121 ctatgtgccg ttacggcagc gccggcagct actgctccag aagctgctgc agcgaagacg
      181 caagggagct gcggaggaag agcagcagga cagcggtagt gaaccccggg gagatgagga
      241 cgacatcccg ctaggccctc agtccaacgt cagcctcctg gatcagcacc agcaccttaa
      301 agagaaggct gaagcgcgca aagagtctgc caaggagaag cagctgaagg aagaagagaa
      361 gatcctggag agtgttgccg agggccgagc attgatgtca gtgaaggaga tggctaaggg
      421 cattacgtat gatgacccca tcaaaaccag ctggactcca ccccgttatg ttctgagcat
      481 gtctgaagag cgacatgagc gcgtgcggaa gaaataccac atcctggtgg agggagacgg
      541 tatcccacca cccatcaaga gcttcaagga aatgaagttt cctgcagcca tcctgagagg
      601 cctgaagaag aaaggcattc accacccaac acccattcag atccagggca tccccaccat
      661 tctatctggc cgtgacatga taggcatcgc tttcacgggt tcaggcaaga cactggtgtt
      721 cacgttgccc gtcatcatgt tctgcctgga acaagagaag aggttaccct tctcaaagcg
      781 cgaggggccc tatggactca tcatctgccc ctcgcgggag ctggcccggc agacccatgg
      841 catcctggag tactactgcc gcctgctgca ggaggacagc tcaccactcc tgcgctgcgc
      901 cctctgcatt gggggcatgt ccgtgaaaga gcagatggag accatccgac acggtgtaca
      961 catgatggtg gccaccccgg ggcgcctcat ggatttgctg cagaagaaga tggtcagcct
     1021 agacatctgt cgctacctgg ccctggacga ggctgaccgc atgatcgaca tgggcttcga
     1081 gggtgacatc cgtaccatct tctcctactt caagggccag cgacagaccc tgctcttcag
     1141 tgccaccatg ccgaagaaga ttcagaactt tgctaagagt gcccttgtaa agcctgtgac
     1201 catcaatgtg gggcgcgctg gggctgccag cctggatgtc atccaggagg tagaatatgt
     1261 gaaggaggag gccaagatgg tgtacctgct cgagtgcctg cagaagacac ccccgcctgt
     1321 actcatcttt gcagagaaga aggcagacgt ggacgccatc cacgagtacc tgctgctcaa
     1381 gggggttgag gccgtagcca tccatggggg caaagaccag gaggaacgga ctaaggccat
     1441 cgaggcattc cgggagggca agaaggatgt cctagtagcc acagacgttg cctccaaggg
     1501 cctggacttc cctgccatcc agcacgtcat caattatgac atgccagagg agattgagaa
     1561 ctatgtacac cggattggcc gcaccgggcg ctcgggaaac acaggcatcg ccactacctt
     1621 catcaacaaa gcgtgtgatg agtcagtgct gatggacctc aaagcgctgc tgctagaagc
     1681 caagcagaag gtgccgcccg tgctgcaggt gctgcattgc ggggatgagt ccatgctgga
     1741 cattggagga gagcgcggct gtgccttctg cgggggcctg ggtcatcgga tcactgactg
     1801 ccccaaactc gaggctatgc agaccaagca ggtcagcaac atcggtcgca aggactacct
     1861 ggcccacagc tccatggact tctgagccga cagtcttccc ttctctccaa gaggcctcag
     1921 tccccaagac tgccaccagt ctacacatac agcagccccc tggacagaat cagcatttca
     1981 gctcagctgg cctgggatgg gccaggctgg tcctggctgc ctgttccctg tgctcttcag
     2041 aattactgtt tttgtttcct tttaccccag ctgccattaa agcccaaacc tctagccca
//
