DDX6 DEAD (Asp-Glu-Ala-Asp) box helicase 6 [Homo sapiens] - Gene

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Summary

Official Symbol: DDX6provided by HGNC
Official Full Name: DEAD (Asp-Glu-Ala-Asp) box helicase 6provided by HGNC
Primary source: HGNC:2747
See related: Ensembl:ENSG00000110367; HPRD:02638; 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; FLJ36338
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]

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Genomic context

Location :: 11q23.3

Sequence :: Chromosome: 11; NC_000011.9 (118618472..118661972, complement)

See DDX6 in Epigenomics, MapViewer

Chromosome 11 - NC_000011.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Data show that DDX6 is required for efficient assembly or release of infectious Dengue virus.
Title: Quantitative mass spectrometry of DENV-2 RNA-interacting proteins reveals that the DEAD-box RNA helicase DDX6 binds the DB1 and DB2 3' UTR structures.
stud finds that DDX6 is required for efficient genome packaging of foamy virus, a spumaretrovirus
Title: The DEAD-box RNA helicase DDX6 is required for efficient encapsidation of a retroviral genome.
RCK is a functional partner of TTP in promoting TTP-mediated translational repression of AU-rich mRNA
Title: AU-rich-element-dependent translation repression requires the cooperation of tristetraprolin and RCK/P54.
data suggest that in premature erythroid cells translational silencing of hr15-LOX mRNA is maintained by DDX6 mediated storage in these RNP granules
Title: DDX6 recruits translational silenced human reticulocyte 15-lipoxygenase mRNA to RNP granules.
DDX6 helicase activity is essential for efficient hepatitis C virus replication, reflecting essential roles for DDX6 in hepatitis C virus genome amplification and/or maintenance of cellular homeostasis.
Title: DDX6 (Rck/p54) is required for efficient hepatitis C virus replication but not for internal ribosome entry site-directed translation.
In the Australian GWAS, one SNP achieved genomewide significance for comorbid AD/ND, rs1784300 near DDX6 on chromosome 11 (p = 2.60 x 10(-9)).
Title: A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.
DEAD-box helicase rck/p54, is involved in post-transcriptional regulation of APP, as its overexpression in cultured cells results in elevated levels of APP mRNA and protein
Title: Rck/p54 interacts with APP mRNA as part of a multi-protein complex and enhances APP mRNA and protein expression in neuronal cell lines.
The role of the p54 helicase activity in translational repression and in P-body formation, was examined.
Title: Role of p54 RNA helicase activity and its C-terminal domain in translational repression, P-body localization and assembly.
RCK/ p54 might be a determinant of colorectal cancer proliferation by activating the canonical Wnt pathway
Title: Knockdown of RCK/p54 expression by RNAi inhibits proliferation of human colorectal cancer cells in vitro and in vivo.
Structural basis for the mutually exclusive anchoring of P body components EDC3 and Tral to the DEAD box protein DDX6/Me31B.
Title: Structural basis for the mutually exclusive anchoring of P body components EDC3 and Tral to the DEAD box protein DDX6/Me31B.

Submit: New GeneRIF Correction See all (14)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.

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Products	Interactant	Other Gene	Source	Pubs	Description
P26196	Q96F86	EDC3	HPRD	PubMed
P26196	P26368	U2AF2	HPRD	PubMed
BioGRID:108022	BioGRID:110445	AFF1	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western
BioGRID:108022	BioGRID:107076	BCL6	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108022	BioGRID:211917	Lsm14a	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108022	BioGRID:122173	POLR1E	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108022	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108022	BioGRID:116168	YWHAQ	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108022	BioGRID:1205537	gag	BioGRID	PubMed	Protein-RNA
BioGRID:108022	BioGRID:1205539	vif	BioGRID	PubMed	Affinity Capture-Western; FRET

Function	Evidence Code	Pubs
ATP binding	IEA Inferred from Electronic Annotation more info
ATP-dependent helicase activity	IEA Inferred from Electronic Annotation more info
RNA binding	IEA Inferred from Electronic Annotation more info
RNA helicase activity	TAS Traceable Author Statement more info	PubMed
helicase activity	TAS Traceable Author Statement more info	PubMed
hydrolase activity	IEA Inferred from Electronic Annotation more info
nucleic acid binding	IEA Inferred from Electronic Annotation more info
nucleotide binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
RNA metabolic process	TAS Traceable Author Statement more info
exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	TAS Traceable Author Statement more info
gene expression	TAS Traceable Author Statement more info
mRNA metabolic process	TAS Traceable Author Statement more info
nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
RNA-induced silencing complex	IDA Inferred from Direct Assay more info
cytoplasm	IEA Inferred from Electronic Annotation more info
cytoplasmic mRNA processing body	IDA Inferred from Direct Assay more info
cytoplasmic stress granule	IDA Inferred from Direct Assay more info	PubMed
cytosol	TAS Traceable Author Statement more info

General protein information

Preferred Names: probable ATP-dependent RNA helicase DDX6

Names: probable ATP-dependent RNA helicase DDX6; DEAD box-6; oncogene RCK; DEAD box protein 6; ATP-dependent RNA helicase p54; DEAD (Asp-Glu-Ala-Asp) box polypeptide 6; DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD)

NP_004388.2

EC 3.6.4.13

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NCBI Reference Sequences (RefSeq)

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)

NM_001257191.1 → NP_001244120.1 probable ATP-dependent RNA helicase DDX6

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

UniProtKB/Swiss-Prot

P26196

Conserved Domains (3) summary

cd00268
Location:98 – 299
Blast Score: 669

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 ...

cd00079
Location:311 – 437
Blast Score: 305

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 ...

PTZ00424
Location:98 – 473
Blast Score: 797

PTZ00424; helicase 45; Provisional
NM_004397.4 → NP_004388.2 probable ATP-dependent RNA helicase DDX6

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

Consensus CDS

CCDS44751.1

UniProtKB/Swiss-Prot

P26196

Related

ENSP00000264018, OTTHUMP00000232837, ENST00000264018, OTTHUMT00000389645

Conserved Domains (3) summary

cd00268
Location:98 – 299
Blast Score: 669

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 ...

cd00079
Location:311 – 437
Blast Score: 305

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 ...

PTZ00424
Location:98 – 473
Blast Score: 797

PTZ00424; helicase 45; Provisional

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000011.9 Reference GRCh37.p5 Primary Assembly

Range

118618472..118661972, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000143.1 Alternate HuRef

Range

114556823..114600235, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AP002954.1 (126214..161405)	None
genomic	AP004609.1	None
genomic	CH471065.1	EAW67412.1
		EAW67413.1
genomic	HC879394.1	CBM42913.1
genomic	HD033103.1	CBV35646.1
mRNA	AI265778.1	None
mRNA	AK021715.1	None
mRNA	AK093657.1	None
mRNA	AK313244.1	BAG36055.1
mRNA	BC026228.1	None
mRNA	BC039826.1	AAH39826.1
mRNA	BC065007.1	AAH65007.1
mRNA	BF810127.1	None
mRNA	D17532.1	BAA04482.1
mRNA	DA993470.1	None
mRNA	Z11685.1	None
other-genetic	HQ448157.1	ADQ32638.1