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

Gene ID: 1656, updated on 2-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
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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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Related articles in PubMed

  1. The RCK gene associated with t(11;14) translocation is distinct from the MLL/ALL-1 gene with t(4;11) and t(11;19) translocations. Akao Y, et al. Cancer Res, 1992 Nov 1. PMID 1394235
  2. DEAD-Box Helicase DDX6 Facilitated RIG-I-Mediated Type-I Interferon Response to EV71 Infection. Zhang R, et al. Front Cell Infect Microbiol, 2021. PMID 34485180, Free PMC Article
  3. The RNA Helicase DDX6 Controls Cellular Plasticity by Modulating P-Body Homeostasis. Di Stefano B, et al. Cell Stem Cell, 2019 Nov 7. PMID 31588046, Free PMC Article
  4. Involvement of DDX6 gene in radio- and chemoresistance in glioblastoma. Cho YJ, et al. Int J Oncol, 2016 Mar. PMID 26783102
  5. DDX6 Orchestrates Mammalian Progenitor Function through the mRNA Degradation and Translation Pathways. Wang Y, et al. Mol Cell, 2015 Oct 1. PMID 26412305, Free PMC Article

See all (239) citations in PubMed

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

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

Gene LinkOut

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