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

Gene ID: 54555, updated on 5-Mar-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, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 13.3), bone marrow (RPKM 12.8) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
19p13.11
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (18919715..18928630)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (19055473..19064418)
105.20220307 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
  • 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. 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
  4. 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
  5. DExD/H Box Helicases DDX24 and DDX49 Inhibit Reactivation of Kaposi's Sarcoma Associated Herpesvirus by Interacting with Viral mRNAs. Serfecz JC, et al. Viruses, 2022 Sep 20. PMID 36298642, Free PMC Article

See all (55) 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_2023_10

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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