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    DDX49 DEAD-box helicase 49 [ Homo sapiens (human) ]

    Gene ID: 54555, updated on 28-Oct-2024

    Summary

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    Official Symbol
    DDX49provided by HGNC
    Official Full Name
    DEAD-box helicase 49provided by HGNC
    Primary source
    HGNC:HGNC:18684
    See related
    Ensembl:ENSG00000105671 AllianceGenome:HGNC:18684
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    Dbp8; R27090_2
    Summary
    Enables RNA binding activity. Involved in positive regulation of cell growth and regulation of rRNA stability. Predicted to be located in nucleoplasm. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in testis (RPKM 13.3), bone marrow (RPKM 12.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DDX49 in Genome Data Viewer
    Location:
    19p13.11
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (18919715..18928630)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (19055473..19064418)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (19030524..19039439)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ceramide synthase 1 Neighboring gene growth differentiation factor 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10423 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18994867-18995367 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10424 Neighboring gene COPI coat complex subunit epsilon Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:19028406-19029296 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10425 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14334 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:19042288-19042799 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:19042800-19043310 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:19043997-19044615 Neighboring gene homer scaffold protein 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10426 Neighboring gene HOMER3 antisense RNA 1 Neighboring gene RNA, 7SL, cytoplasmic 70, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Overexpression of DDX49 in prostate cancer is associated with poor prognosis. Tao J, et al. BMC Urol, 2023 Apr 27. PMID 37106339, Free PMC Article
    2. DDX49 Promotes Proliferation and Metastasis of Cervical Cancer by Regulation of AKT and Wnt/β-Catenin Signalings. Chen Y, et al. Ann Clin Lab Sci, 2023 Mar. PMID 37094865
    3. DDX49 is a novel biomarker and therapeutic target for lung cancer metastases. Lian X, et al. J Cell Mol Med, 2020 Jan. PMID 31749282, Free PMC Article
    4. Morphine may act via DDX49 to inhibit hepatocellular carcinoma cell growth. Dai H, et al. Aging (Albany NY), 2021 May 5. PMID 33952717, Free PMC Article
    5. DDX49 is an RNA helicase that affects translation by regulating mRNA export and the levels of pre-ribosomal RNA. Awasthi S, et al. Nucleic Acids Res, 2018 Jul 6. PMID 29618122, Free PMC Article

    See all (62) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Overexpression of DDX49 in prostate cancer is associated with poor prognosis.
      Title: Overexpression of DDX49 in prostate cancer is associated with poor prognosis.
    2. DDX49 Promotes Proliferation and Metastasis of Cervical Cancer by Regulation of AKT and Wnt/beta-Catenin Signalings.
      Title: DDX49 Promotes Proliferation and Metastasis of Cervical Cancer by Regulation of AKT and Wnt/β-Catenin Signalings.
    3. DExD/H Box Helicases DDX24 and DDX49 Inhibit Reactivation of Kaposi's Sarcoma Associated Herpesvirus by Interacting with Viral mRNAs.
      Title: DExD/H Box Helicases DDX24 and DDX49 Inhibit Reactivation of Kaposi's Sarcoma Associated Herpesvirus by Interacting with Viral mRNAs.
    4. LncRNA SNHG20 promoted proliferation, invasion and inhibited cell apoptosis of lung adenocarcinoma via sponging miR-342 and upregulating DDX49.
      Title: LncRNA SNHG20 promoted proliferation, invasion and inhibited cell apoptosis of lung adenocarcinoma via sponging miR-342 and upregulating DDX49.
    5. Morphine may act via DDX49 to inhibit hepatocellular carcinoma cell growth.
      Title: Morphine may act via DDX49 to inhibit hepatocellular carcinoma cell growth.
    6. DDX49 is a novel biomarker and therapeutic target for lung cancer metastases.
      Title: DDX49 is a novel biomarker and therapeutic target for lung cancer metastases.
    7. DDX49 displays a robust ATPase and RNA helicase activity and it is involved in the export of poly (A)+ mRNAs to cytoplasm. DDX49 is localized in the nucleolus and regulates the steady state levels of pre-ribosomal 47S RNA and global translation.
      Title: DDX49 is an RNA helicase that affects translation by regulating mRNA export and the levels of pre-ribosomal RNA.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of DEAD (Asp-Glu-Ala-Asp) box polypeptide 49 (DDX49) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Pr55(Gag) gag HIV-1 Gag is identified to have a physical interaction with DEAD (Asp-Glu-Ala-Asp) box polypeptide 49 (DDX49) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10432

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA binding HDA PubMed 
    enables RNA helicase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of cell growth IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in rRNA processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of rRNA stability IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    probable ATP-dependent RNA helicase DDX49
    Names
    DEAD (Asp-Glu-Ala-Asp) box polypeptide 49
    DEAD box protein 49
    NP_061943.2
    XP_011526386.1
    XP_054177249.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_019070.5 → NP_061943.2  probable ATP-dependent RNA helicase DDX49

      See identical proteins and their annotated locations for NP_061943.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript.
      Source sequence(s)
      AU148229, BC002674
      Consensus CDS
      CCDS12390.1
      UniProtKB/Swiss-Prot
      E7ENA0, Q53FJ1, Q9BVQ8, Q9Y6V7
      UniProtKB/TrEMBL
      A8K7A1
      Related
      ENSP00000247003.3, ENST00000247003.9
      Conserved Domains (1) summary
      COG0513
      Location:1 → 467
      SrmB; Superfamily II DNA and RNA helicase [Replication, recombination and repair]

    RNA

    1. NR_033677.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5' coding region compared to variant 1. This variant is represented as non-coding because the use of the expected translational start codon as used in variant 1 renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AU148229, BC002674, BP252678, BX647408
      Related
      ENST00000602113.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      18919715..18928630
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011528084.4 → XP_011526386.1  probable ATP-dependent RNA helicase DDX49 isoform X1

      See identical proteins and their annotated locations for XP_011526386.1

      Conserved Domains (4) summary
      COG0513
      Location:1 → 360
      SrmB; Superfamily II DNA and RNA helicase [Replication, recombination and repair]
      cd00079
      Location:111 → 244
      HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
      cl19511
      Location:256 → 347
      DUF2317; Uncharacterized protein conserved in bacteria (DUF2317)
      cl21455
      Location:1 → 99
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      19055473..19064418
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054321274.1 → XP_054177249.1  probable ATP-dependent RNA helicase DDX49 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y6V7.1 GenPept UniProtKB/Swiss-Prot:Q9Y6V7

    Gene LinkOut

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