LOCUS       NM_001031725            2229 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens DEAD-box helicase 59 (DDX59), transcript variant 1,
            mRNA.
ACCESSION   NM_001031725
VERSION     NM_001031725.6
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 2229)
  AUTHORS   Xie,P., Wang,Y., Liao,Y., Han,Q., Qiu,Z., Chen,Y. and Zuo,X.
  TITLE     MicroRNA-628-5p inhibits cell proliferation in glioma by targeting
            DDX59
  JOURNAL   J Cell Biochem 120 (10), 17293-17302 (2019)
   PUBMED   31111544
  REMARK    GeneRIF: MicroRNA-628-5p inhibits cell proliferation in glioma by
            targeting DDX59.
REFERENCE   2  (bases 1 to 2229)
  AUTHORS   Yang,L., Zhang,H., Chen,D., Ding,P., Yuan,Y. and Zhang,Y.
  TITLE     EGFR and Ras regulate DDX59 during lung cancer development
  JOURNAL   Gene 642, 95-102 (2018)
   PUBMED   29133145
  REMARK    GeneRIF: Study presents evidence that DDX59 protein can be
            upregulated by MEK/ERK/MAP kinase pathway downstream of EGFR and
            Ras signaling. Increased expression of DDX59 mediates the
            tumorigenecity of EGFR and Ras in lung cancer.
REFERENCE   3  (bases 1 to 2229)
  AUTHORS   Salpietro,V., Efthymiou,S., Manole,A., Maurya,B., Wiethoff,S.,
            Ashokkumar,B., Cutrupi,M.C., Dipasquale,V., Manti,S., Botia,J.A.,
            Ryten,M., Vandrovcova,J., Bello,O.D., Bettencourt,C., Mankad,K.,
            Mukherjee,A., Mutsuddi,M. and Houlden,H.
  TITLE     A loss-of-function homozygous mutation in DDX59 implicates a
            conserved DEAD-box RNA helicase in nervous system development and
            function
  JOURNAL   Hum Mutat 39 (2), 187-192 (2018)
   PUBMED   29127725
  REMARK    GeneRIF: Analysis of human brain gene expression provides evidence
            that DDX59 is enriched in oligodendrocytes and might act within
            pathways of leukoencephalopathies-associated genes.
REFERENCE   4  (bases 1 to 2229)
  AUTHORS   Faily,S., Perveen,R., Urquhart,J., Chandler,K. and Clayton-Smith,J.
  TITLE     Confirmation that mutations in DDX59 cause an autosomal recessive
            form of oral-facial-digital syndrome: Further delineation of the
            DDX59 phenotype in two new families
  JOURNAL   Eur J Med Genet 60 (10), 527-532 (2017)
   PUBMED   28711741
  REMARK    GeneRIF: The novel DDX59 mutation is associated with
            oral-facial-digital syndrome.
REFERENCE   5  (bases 1 to 2229)
  AUTHORS   You,J., Wang,X., Wang,J., Yuan,B. and Zhang,Y.
  TITLE     DDX59 promotes DNA replication in lung adenocarcinoma
  JOURNAL   Cell Death Discov 3, 16095 (2017)
   PUBMED   28090355
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2229)
  AUTHORS   Shamseldin,H.E., Rajab,A., Alhashem,A., Shaheen,R., Al-Shidi,T.,
            Alamro,R., Al Harassi,S. and Alkuraya,F.S.
  TITLE     Mutations in DDX59 implicate RNA helicase in the pathogenesis of
            orofaciodigital syndrome
  JOURNAL   Am J Hum Genet 93 (3), 555-560 (2013)
   PUBMED   23972372
  REMARK    GeneRIF: These data strongly implicate DDX59 RNA helicase family
            member in the pathogenesis of orofaciodigital syndrome.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL445483.13.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001031725.5.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1). Variants 1, 4 and 5
            all encode the same isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.115086.1,
                                           SRR1660805.119768.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000331314.11/ ENSP00000330460.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-141               AL445483.13        124839-124979       c
            142-956             AL445483.13        121009-121823       c
            957-1124            AL445483.13        118991-119158       c
            1125-1214           AL445483.13        114099-114188       c
            1215-1466           AL445483.13        105497-105748       c
            1467-1619           AL445483.13        104146-104298       c
            1620-1748           AL445483.13        103511-103639       c
            1749-2229           AL445483.13        99109-99589         c
FEATURES             Location/Qualifiers
     source          1..2229
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32.1"
     gene            1..2229
                     /gene="DDX59"
                     /gene_synonym="OFD5; ZNHIT5"
                     /note="DEAD-box helicase 59"
                     /db_xref="GeneID:83479"
                     /db_xref="HGNC:HGNC:25360"
                     /db_xref="MIM:615464"
     exon            1..141
                     /gene="DDX59"
                     /gene_synonym="OFD5; ZNHIT5"
                     /inference="alignment:Splign:2.1.0"
     exon            142..956
                     /gene="DDX59"
                     /gene_synonym="OFD5; ZNHIT5"
                     /inference="alignment:Splign:2.1.0"
     CDS             153..2012
                     /gene="DDX59"
                     /gene_synonym="OFD5; ZNHIT5"
                     /EC_number="3.6.4.13"
                     /note="isoform 1 is encoded by transcript variant 1;
                     probable ATP-dependent RNA helicase DDX59; DEAD box
                     protein 59; zinc finger HIT domain-containing protein 5;
                     DEAD (Asp-Glu-Ala-Asp) box polypeptide 59; zinc finger
                     HIT-type containing 5"
                     /codon_start=1
                     /product="probable ATP-dependent RNA helicase DDX59
                     isoform 1"
                     /protein_id="NP_001026895.2"
                     /db_xref="CCDS:CCDS30964.1"
                     /db_xref="GeneID:83479"
                     /db_xref="HGNC:HGNC:25360"
                     /db_xref="MIM:615464"
                     /translation="MFVPRSLKIKRNANDDGKSCVAKIIKPDPEDLQLDKSRDVPVDA
                     VATEAATIDRHISESCPFPSPGGQLAEVHSVSPEQGAKDSHPSEEPVKSFSKTQRWAE
                     PGEPICVVCGRYGEYICDKTDEDVCSLECKAKHLLQVKEKEEKSKLSNPQKADSEPES
                     PLNASYVYKEHPFILNLQEDQIENLKQQLGILVQGQEVTRPIIDFEHCSLPEVLNHNL
                     KKSGYEVPTPIQMQMIPVGLLGRDILASADTGSGKTAAFLLPVIMRALFESKTPSALI
                     LTPTRELAIQIERQAKELMSGLPRMKTVLLVGGLPLPPQLYRLQQHVKVIIATPGRLL
                     DIIKQSSVELCGVKIVVVDEADTMLKMGFQQQVLDILENIPNDCQTILVSATIPTSIE
                     QLASQLLHNPVRIITGEKNLPCANVRQIILWVEDPAKKKKLFEILNDKKLFKPPVLVF
                     VDCKLGADLLSEAVQKITGLKSISIHSEKSQIERKNILKGLLEGDYEVVVSTGVLGRG
                     LDLISVRLVVNFDMPSSMDEYVHQIGRVGRLGQNGTAITFINNNSKRLFWDIAKRVKP
                     TGSILPPQLLNSPYLHDQKRKEQQKDKQTQNDLVTGANLMDIIRKHDKSNSQK"
     exon            957..1124
                     /gene="DDX59"
                     /gene_synonym="OFD5; ZNHIT5"
                     /inference="alignment:Splign:2.1.0"
     exon            1125..1214
                     /gene="DDX59"
                     /gene_synonym="OFD5; ZNHIT5"
                     /inference="alignment:Splign:2.1.0"
     exon            1215..1466
                     /gene="DDX59"
                     /gene_synonym="OFD5; ZNHIT5"
                     /inference="alignment:Splign:2.1.0"
     exon            1467..1619
                     /gene="DDX59"
                     /gene_synonym="OFD5; ZNHIT5"
                     /inference="alignment:Splign:2.1.0"
     exon            1620..1748
                     /gene="DDX59"
                     /gene_synonym="OFD5; ZNHIT5"
                     /inference="alignment:Splign:2.1.0"
     exon            1749..2229
                     /gene="DDX59"
                     /gene_synonym="OFD5; ZNHIT5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2125..2130
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DDX59"
                     /gene_synonym="OFD5; ZNHIT5"
                     /note="hexamer: AATAAA"
     polyA_site      2143
                     /gene="DDX59"
                     /gene_synonym="OFD5; ZNHIT5"
                     /note="major polyA site"
     regulatory      2202..2207
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DDX59"
                     /gene_synonym="OFD5; ZNHIT5"
                     /note="hexamer: AATAAA"
     polyA_site      2229
                     /gene="DDX59"
                     /gene_synonym="OFD5; ZNHIT5"
                     /note="major polyA site"
ORIGIN      
        1 gctccgctcc gcaccaccaa ccccgggccg cagtcctgac gagcgggtca gggcttgtcg
       61 ggcggaagcc tggcctggag cctggaaggg ggagacggcc cgagcgggag cgggagcgga
      121 cgcggcctca gtcctgcgcg gaatattgaa ggatgtttgt tccaagatct ctaaaaatca
      181 agaggaatgc taatgatgat ggcaaaagtt gtgtggctaa gataattaaa ccagacccag
      241 aagaccttca gttggacaaa agcagagatg ttcccgttga tgctgtagct acagaagcag
      301 ccacaataga caggcacatc agcgaatcat gccctttccc cagcccaggt ggccagttgg
      361 cagaggttca ttcagtaagt cccgagcagg gtgcgaagga cagccatcct tctgaagagc
      421 ccgttaagtc attttccaaa acacagcgct gggcagaacc aggggaaccc atctgtgttg
      481 tctgtggtcg ttatggagag tatatctgtg ataagacaga tgaagatgtg tgtagtttgg
      541 agtgtaaagc gaaacatctt ctacaagtta aggaaaagga agagaaatca aaactcagca
      601 atccacagaa ggctgattct gagccagagt ctccactgaa tgcttcctat gtctacaaag
      661 agcacccctt tattttgaac cttcaggaag accagattga aaatcttaaa cagcagctgg
      721 gaattttagt tcaagggcaa gaagtcacca ggcccattat tgactttgaa cattgtagtc
      781 tccctgaggt cttaaatcac aacttgaaga aatcaggcta tgaggtgcca actcccattc
      841 aaatgcagat gattcctgtg ggacttctgg gaagagacat tctggccagt gcagatactg
      901 gctcaggaaa aacagctgct tttcttcttc ctgttatcat gcgagcttta ttcgagagca
      961 aaactccatc tgcgctcatt cttacaccaa ccagagagtt agccattcag atagagagac
     1021 aagctaaaga attgatgagt ggcctgccac gcatgaaaac tgtgcttctt gtagggggct
     1081 tacccttacc cccacagctt tatcgtctgc aacaacatgt taaggttatc atagcaaccc
     1141 ctgggcgact tctggatata ataaagcaga gctctgtaga actctgtggt gtaaagattg
     1201 tggtagtaga tgaagctgat accatgttaa agatgggttt tcaacaacaa gtgcttgaca
     1261 ttttggaaaa cattcctaat gattgtcaga ccattttggt ttcagccaca attccaacta
     1321 gcatagaaca gctagcaagc cagcttctgc ataatcctgt gagaattatc actggagaaa
     1381 agaacctacc ttgtgccaat gtacgtcaga ttattttgtg ggtagaagac ccagccaaaa
     1441 agaaaaaatt atttgaaatt ttaaatgata agaaactctt taagcctcca gtgttagtat
     1501 ttgtggactg caaactagga gcagatcttt tgagtgaagc cgttcagaaa atcacagggc
     1561 tgaaaagcat atctatacat tcagagaagt cgcaaataga aaggaaaaac atattgaagg
     1621 gattacttga aggagactat gaagttgtag tgagcacagg agtcttggga cgaggcctag
     1681 acttgatcag tgtcaggctg gttgtcaatt ttgatatgcc ttcaagtatg gatgagtatg
     1741 tccatcagat tggaagagta ggaagattag gtcaaaatgg aacagcgatt actttcatca
     1801 ataataattc aaaaagactc ttctgggata ttgcaaaacg agtaaagccc acaggatcca
     1861 ttcttccccc tcagttatta aattccccat accttcatga ccagaagaga aaggaacaac
     1921 agaaagataa acagacacag aatgatctgg ttacaggagc taatcttatg gatattatca
     1981 gaaaacatga taaaagtaat tctcagaaat gattttctct gccacttgaa tatttttttt
     2041 tattgtatat agtcagcaaa aaattatggt ttgcataaat ggaaatgtac atgaatttta
     2101 aaaattttaa gatattttta atttaataaa atttatataa ctatattgta tttatttccc
     2161 ttaattctta taaattaaaa acatcagaaa atgaattatt aaataaaaga cagtgttttc
     2221 ttttctgga
//
