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

    Gene ID: 1656, updated on 3-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:2747
    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; IDDILF; Rck/p54
    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
    mouse all
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    Genomic context

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    See DDX6 in Genome Data Viewer
    Location:
    11q23.3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (118747763..118791744, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (118766827..118810815, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (118618472..118662453, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369519 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:118575423-118575924 Neighboring gene RNA, U6 small nuclear 376, pseudogene Neighboring gene endogenous retrovirus group K member 7 Env polyprotein-like Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:118586305-118587110 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:118587111-118587918 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:118587919-118588724 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:118589533-118590338 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:118590377-118591118 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:118591859-118592599 Neighboring gene NANOG hESC enhancer GRCh37_chr11:118597110-118597611 Neighboring gene Sharpr-MPRA regulatory region 1830 Neighboring gene MPRA-validated peak1491 silencer Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:118660473-118661030 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3953 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5599 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3954 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:118662705-118663260 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5600 Neighboring gene Sharpr-MPRA regulatory region 5837 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5601 Neighboring gene COX7C pseudogene 3 Neighboring gene SET pseudogene 16

    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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Rab3B enhances the stabilization of DDX6 to promote lung adenocarcinoma aggressiveness.
      Title: Rab3B enhances the stabilization of DDX6 to promote lung adenocarcinoma aggressiveness.
    2. The DDX6/KIFC1 signaling axis, as regulated by YY1, contributes to the malignant behavior of pancreatic cancer.
      Title: The DDX6/KIFC1 signaling axis, as regulated by YY1, contributes to the malignant behavior of pancreatic cancer.
    3. DDX6 modulates P-body and stress granule assembly, composition, and docking.
      Title: DDX6 modulates P-body and stress granule assembly, composition, and docking.
    4. DDX6 is involved in the pathogenesis of inflammatory diseases via NF-kappaB activation.
      Title: DDX6 is involved in the pathogenesis of inflammatory diseases via NF-κB activation.
    5. RNA helicase DDX6 and scaffold protein GW182 in P-bodies promote biogenesis of stress granules.
      Title: RNA helicase DDX6 and scaffold protein GW182 in P-bodies promote biogenesis of stress granules.
    6. miR-148a-3p and DDX6 functional link promotes survival of myeloid leukemia cells.
      Title: miR-148a-3p and DDX6 functional link promotes survival of myeloid leukemia cells.
    7. RNA Helicase DDX6 Regulates A-to-I Editing and Neuronal Differentiation in Human Cells.
      Title: RNA Helicase DDX6 Regulates A-to-I Editing and Neuronal Differentiation in Human Cells.
    8. Circulating Exosomal circRNA_0063476 Impairs Expression of Markers of Bone Growth Via the miR-518c-3p/DDX6 Axis in ISS.
      Title: Circulating Exosomal circRNA_0063476 Impairs Expression of Markers of Bone Growth Via the miR-518c-3p/DDX6 Axis in ISS.
    9. miR-152-3p aggravates vascular endothelial cell dysfunction by targeting DEAD-box helicase 6 (DDX6) under hypoxia.
      Title: miR-152-3p aggravates vascular endothelial cell dysfunction by targeting DEAD-box helicase 6 (DDX6) under hypoxia.
    10. DEAD-Box Helicase DDX6 Facilitated RIG-I-Mediated Type-I Interferon Response to EV71 Infection.
      Title: DEAD-Box Helicase DDX6 Facilitated RIG-I-Mediated Type-I Interferon Response to EV71 Infection.
    Submit: New GeneRIF Correction See all GeneRIFs (55)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Intellectual developmental disorder with impaired language and dysmorphic facies
    MedGen: C5231444 OMIM: 618653 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

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

    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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    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

    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

    • FLJ36338

    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 cadherin binding HDA PubMed 
    enables helicase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables mRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein domain specific binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in P-body assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within P-body assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in P-body assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in P-body assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_positive_effect miRNA-mediated gene silencing by inhibition of translation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of translation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of translation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in stem cell population maintenance IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in stress granule assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in viral RNA genome packaging IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in P-body IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in P-body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in P-body IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    part_of RISC complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasmic ribonucleoprotein granule IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in cytoplasmic stress granule IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasmic stress granule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane HDA PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    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_001412074.1
    NP_001412075.1
    NP_001412076.1
    NP_001412077.1
    NP_001412078.1
    NP_001412079.1
    NP_001412080.1
    NP_001412081.1
    NP_001412082.1
    NP_001412083.1
    NP_004388.2
    XP_047282444.1
    XP_054223857.1

    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_001257191.3 → NP_001244120.1  probable ATP-dependent RNA helicase DDX6 isoform 1

      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, Q5D048
      UniProtKB/TrEMBL
      B2R858
      Related
      ENSP00000478754.1, ENST00000620157.4
      Conserved Domains (2) summary
      cd18787
      Location:309 → 438
      SF2_C_DEAD; C-terminal helicase domain of the DEAD box helicases
      cd17940
      Location:98 → 299
      DEADc_DDX6; DEAD-box helicase domain of DEAD box protein 6

    2. NM_001425145.1 → NP_001412074.1  probable ATP-dependent RNA helicase DDX6 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AP002954, AP004609, KF510139, KF510354, KF511134
      UniProtKB/Swiss-Prot
      P26196, Q5D048

    3. NM_001425146.1 → NP_001412075.1  probable ATP-dependent RNA helicase DDX6 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AP002954, AP004609, KF510139, KF510354, KF511134
      UniProtKB/Swiss-Prot
      P26196, Q5D048

    4. NM_001425147.1 → NP_001412076.1  probable ATP-dependent RNA helicase DDX6 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AP002954, AP004609, KF510139, KF510354, KF511134

    5. NM_001425148.1 → NP_001412077.1  probable ATP-dependent RNA helicase DDX6 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AP002954, AP004609, KF510139, KF510354, KF511134

    6. NM_001425149.1 → NP_001412078.1  probable ATP-dependent RNA helicase DDX6 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AP002954, AP004609, KF510139, KF510354, KF511134

    7. NM_001425150.1 → NP_001412079.1  probable ATP-dependent RNA helicase DDX6 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AP002954, AP004609, KF510139, KF510354, KF511134

    8. NM_001425151.1 → NP_001412080.1  probable ATP-dependent RNA helicase DDX6 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AP002954, AP004609, KF510139, KF510354, KF511134

    9. NM_001425152.1 → NP_001412081.1  probable ATP-dependent RNA helicase DDX6 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AP002954, AP004609, KF510139, KF510354, KF511134

    10. NM_001425153.1 → NP_001412082.1  probable ATP-dependent RNA helicase DDX6 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AP002954, AP004609, KF510139, KF510354, KF511134

    11. NM_001425154.1 → NP_001412083.1  probable ATP-dependent RNA helicase DDX6 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AP002954, AP004609, KF510139, KF510354, KF511134

    12. NM_004397.6 → NP_004388.2  probable ATP-dependent RNA helicase DDX6 isoform 1

      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, Q5D048
      UniProtKB/TrEMBL
      B2R858
      Related
      ENSP00000442266.1, ENST00000534980.7
      Conserved Domains (2) summary
      cd18787
      Location:309 → 438
      SF2_C_DEAD; C-terminal helicase domain of the DEAD box helicases
      cd17940
      Location:98 → 299
      DEADc_DDX6; DEAD-box helicase domain of DEAD box protein 6

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      118747763..118791744 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047426488.1 → XP_047282444.1  probable ATP-dependent RNA helicase DDX6 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      118766827..118810815 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054367882.1 → XP_054223857.1  probable ATP-dependent RNA helicase DDX6 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P26196.2 GenPept UniProtKB/Swiss-Prot:P26196

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