LOCUS       NP_001026895             619 aa            linear   PRI 04-APR-2024
DEFINITION  probable ATP-dependent RNA helicase DDX59 isoform 1 [Homo sapiens].
ACCESSION   NP_001026895
VERSION     NP_001026895.2
DBSOURCE    REFSEQ: accession 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  (residues 1 to 619)
  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  (residues 1 to 619)
  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  (residues 1 to 619)
  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  (residues 1 to 619)
  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  (residues 1 to 619)
  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  (residues 1 to 619)
  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 May 14, 2008 this sequence version replaced NP_001026895.1.
            
            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##
FEATURES             Location/Qualifiers
     source          1..619
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32.1"
     Protein         1..619
                     /product="probable ATP-dependent RNA helicase DDX59
                     isoform 1"
                     /EC_number="3.6.4.13"
                     /note="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"
                     /calculated_mol_wt=68679
     Region          57..98
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T1V6.1)"
     Site            64
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q5T1V6.1)"
     Site            76
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q5T1V6.1)"
     Region          89..592
                     /region_name="PLN00206"
                     /note="DEAD-box ATP-dependent RNA helicase; Provisional"
                     /db_xref="CDD:215103"
     Region          142..161
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T1V6.1)"
     Site            156
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q5T1V6.1)"
     Site            160
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q5T1V6.1)"
     Region          203..231
                     /region_name="Q motif"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T1V6.1)"
     Region          353..356
                     /region_name="DEAD box"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T1V6.1)"
     CDS             1..619
                     /gene="DDX59"
                     /gene_synonym="OFD5; ZNHIT5"
                     /coded_by="NM_001031725.6:153..2012"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS30964.1"
                     /db_xref="GeneID:83479"
                     /db_xref="HGNC:HGNC:25360"
                     /db_xref="MIM:615464"
ORIGIN      
        1 mfvprslkik rnanddgksc vakiikpdpe dlqldksrdv pvdavateaa tidrhisesc
       61 pfpspggqla evhsvspeqg akdshpseep vksfsktqrw aepgepicvv cgrygeyicd
      121 ktdedvcsle ckakhllqvk ekeeksklsn pqkadsepes plnasyvyke hpfilnlqed
      181 qienlkqqlg ilvqgqevtr piidfehcsl pevlnhnlkk sgyevptpiq mqmipvgllg
      241 rdilasadtg sgktaafllp vimralfesk tpsaliltpt relaiqierq akelmsglpr
      301 mktvllvggl plppqlyrlq qhvkviiatp grlldiikqs svelcgvkiv vvdeadtmlk
      361 mgfqqqvldi lenipndcqt ilvsatipts ieqlasqllh npvriitgek nlpcanvrqi
      421 ilwvedpakk kklfeilndk klfkppvlvf vdcklgadll seavqkitgl ksisihseks
      481 qierknilkg llegdyevvv stgvlgrgld lisvrlvvnf dmpssmdeyv hqigrvgrlg
      541 qngtaitfin nnskrlfwdi akrvkptgsi lppqllnspy lhdqkrkeqq kdkqtqndlv
      601 tganlmdiir khdksnsqk
//
