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    DDX6 DEAD-box helicase 6 [ Homo sapiens (human) ]

    Gene ID: 1656, updated on 3-Jun-2018
    Official Symbol
    DDX6provided by HGNC
    Official Full Name
    DEAD-box helicase 6provided by HGNC
    Primary source
    HGNC:HGNC:2747
    See related
    Ensembl:ENSG00000110367 MIM:600326; Vega:OTTHUMG00000166411
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    P54; RCK; HLR2
    Summary
    This gene encodes a member of the DEAD box protein family. The protein is an RNA helicase found in P-bodies and stress granules, and functions in translation suppression and mRNA degradation. It is required for microRNA-induced gene silencing. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Mar 2012]
    Expression
    Ubiquitous expression in brain (RPKM 27.6), lymph node (RPKM 26.5) and 25 other tissues See more
    Orthologs
    See DDX6 in Genome Data Viewer
    Location:
    11q23.3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (118747763..118791696, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (118618472..118661972, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369519 Neighboring gene trehalase pseudogene 1 Neighboring gene RNA, U6 small nuclear 376, pseudogene Neighboring gene SET pseudogene 16 Neighboring gene C-X-C motif chemokine receptor 5 Neighboring gene B cell CLL/lymphoma 9 like

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Association analyses identify three susceptibility Loci for vitiligo in the Chinese Han population.
    NHGRI GWA Catalog
    Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.
    NHGRI GWA Catalog
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 is identified to have a physical interaction with DEAD (Asp-Glu-Ala-Asp) box helicase 6 (DDX6) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
    Pr55(Gag) gag ABCE1, DDX6, and AGO2 proteins are associated with HIV-1 Gag in the intracellular high-molecular-weight assembly intermediates. DDX6 and AGO2 are enriched at early and late sites of Gag assembly at plasma membrane PubMed
    gag The efficiency of incorporation of Mov10, A3G, and A3F into viral particles, which contains both HIV-1 Gag and genomic RNA, is much higher than that of the other P-body proteins AGO2, DCP1a, DCP2, and DDX6 PubMed
    integrase gag-pol Analysis of HIV-1 proviral integration sites in antiretroviral treatment patients indicates that DDX6 gene favors HIV-1 integration for expansion and persistence of infected cells, suggesting HIV-1 IN interacts with DDX6 PubMed

    Go to the HIV-1, Human Interaction Database

    • Deadenylation-dependent mRNA decay, organism-specific biosystem (from REACTOME)
      Deadenylation-dependent mRNA decay, organism-specific biosystemAfter undergoing rounds of translation, mRNA is normally destroyed by the deadenylation-dependent pathway. Though the trigger is unclear, deadenylation likely proceeds in two steps: one catalyzed by...
    • Decapping complex, organism-specific biosystem (from KEGG)
      Decapping complex, organism-specific biosystemStructural complex; Genetic information processing; RNA processing
    • Decapping complex, conserved biosystem (from KEGG)
      Decapping complex, conserved biosystemStructural complex; Genetic information processing; RNA processing
    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • RNA degradation, organism-specific biosystem (from KEGG)
      RNA degradation, organism-specific biosystemThe correct processing, quality control and turnover of cellular RNA molecules are critical to many aspects in the expression of genetic information. In eukaryotes, two major pathways of mRNA decay e...
    • RNA degradation, conserved biosystem (from KEGG)
      RNA degradation, conserved biosystemThe correct processing, quality control and turnover of cellular RNA molecules are critical to many aspects in the expression of genetic information. In eukaryotes, two major pathways of mRNA decay e...
    • mRNA decay by 5' to 3' exoribonuclease, organism-specific biosystem (from REACTOME)
      mRNA decay by 5' to 3' exoribonuclease, organism-specific biosystemDegradation of mRNA from 5' to 3' occurs in three steps. First, the mRNA is bound at its 3' end by the Lsm1-7 complex. The bound Lsm1-7 may prevent nucleases from accessing the 3' end. Second, the 7-...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ36338

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    RNA binding HDA PubMed 
    RNA helicase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    cadherin binding HDA PubMed 
    helicase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein domain specific binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cytoplasmic mRNA processing body assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay TAS
    Traceable Author Statement
    more info
     
    negative regulation of neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    stem cell population maintenance IEA
    Inferred from Electronic Annotation
    more info
     
    viral RNA genome packaging IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    P granule IEA
    Inferred from Electronic Annotation
    more info
     
    P-body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    P-body IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    RISC complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasmic ribonucleoprotein granule IDA
    Inferred from Direct Assay
    more info
     
    cytoplasmic stress granule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    heterochromatin IEA
    Inferred from Electronic Annotation
    more info
     
    membrane HDA PubMed 
    mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    outer dense fiber IEA
    Inferred from Electronic Annotation
    more info
     
    sperm annulus IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    probable ATP-dependent RNA helicase DDX6
    Names
    ATP-dependent RNA helicase p54
    DEAD (Asp-Glu-Ala-Asp) box helicase 6
    DEAD (Asp-Glu-Ala-Asp) box polypeptide 6
    DEAD box protein 6
    DEAD box-6
    DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD)
    oncogene RCK
    NP_001244120.1
    NP_004388.2
    XP_005271474.1
    XP_011540946.1
    XP_011540947.1
    XP_016872740.1
    XP_024304145.1

    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_001257191.2NP_001244120.1  probable ATP-dependent RNA helicase DDX6

      See identical proteins and their annotated locations for NP_001244120.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AK313244, AP002954, BC065007, BF810127, KF510354, KF511134
      Consensus CDS
      CCDS44751.1
      UniProtKB/Swiss-Prot
      P26196
      UniProtKB/TrEMBL
      B2R858
      Related
      ENSP00000478754.1, ENST00000620157.4
      Conserved Domains (1) summary
      COG0513
      Location:80458
      SrmB; Superfamily II DNA and RNA helicase [Replication, recombination and repair]
    2. NM_004397.5NP_004388.2  probable ATP-dependent RNA helicase DDX6

      See identical proteins and their annotated locations for NP_004388.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AI265778, AP002954, D17532, DA993470, KF510354, KF511134
      Consensus CDS
      CCDS44751.1
      UniProtKB/Swiss-Prot
      P26196
      Related
      ENSP00000442266.1, OTTHUMP00000276349, ENST00000534980.5, OTTHUMT00000389645
      Conserved Domains (1) summary
      COG0513
      Location:80458
      SrmB; Superfamily II DNA and RNA helicase [Replication, recombination and repair]

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

      Range
      118747763..118791696 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011542645.1XP_011540947.1  probable ATP-dependent RNA helicase DDX6 isoform X3

      Conserved Domains (1) summary
      COG0513
      Location:80409
      SrmB; Superfamily II DNA and RNA helicase [Replication, recombination and repair]
    2. XM_011542644.1XP_011540946.1  probable ATP-dependent RNA helicase DDX6 isoform X2

      Conserved Domains (3) summary
      PTZ00424
      Location:98430
      PTZ00424; helicase 45; Provisional
      cd00079
      Location:284394
      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 ...
      cd00268
      Location:98288
      DEADc; DEAD-box helicases. A diverse family of proteins involved in ATP-dependent RNA unwinding, needed in a variety of cellular processes including splicing, ribosome biogenesis and RNA degradation. The name derives from the sequence of the Walker B motif ...
    3. XM_017017251.1XP_016872740.1  probable ATP-dependent RNA helicase DDX6 isoform X2

      Conserved Domains (3) summary
      PTZ00424
      Location:98430
      PTZ00424; helicase 45; Provisional
      cd00079
      Location:284394
      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 ...
      cd00268
      Location:98288
      DEADc; DEAD-box helicases. A diverse family of proteins involved in ATP-dependent RNA unwinding, needed in a variety of cellular processes including splicing, ribosome biogenesis and RNA degradation. The name derives from the sequence of the Walker B motif ...
    4. XM_005271417.4XP_005271474.1  probable ATP-dependent RNA helicase DDX6 isoform X1

      See identical proteins and their annotated locations for XP_005271474.1

      UniProtKB/Swiss-Prot
      P26196
      Related
      ENSP00000433704.1, OTTHUMP00000232838, ENST00000526070.2
      Conserved Domains (1) summary
      COG0513
      Location:80458
      SrmB; Superfamily II DNA and RNA helicase [Replication, recombination and repair]
    5. XM_024448377.1XP_024304145.1  probable ATP-dependent RNA helicase DDX6 isoform X1

      Conserved Domains (1) summary
      COG0513
      Location:80458
      SrmB; Superfamily II DNA and RNA helicase [Replication, recombination and repair]
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