Description: Homo sapiens DEAD (Asp-Glu-Ala-Asp) box helicase 6 (DDX6), transcript variant 2, mRNA. RefSeq Summary (NM_001257191): 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]. Transcript (Including UTRs) Position: hg19 chr11:118,618,473-118,661,657 Size: 43,185 Total Exon Count: 14 Strand: - Coding Region Position: hg19 chr11:118,625,421-118,656,960 Size: 31,540 Coding Exon Count: 12
ID:DDX6_HUMAN DESCRIPTION: RecName: Full=Probable ATP-dependent RNA helicase DDX6; EC=3.6.4.13; AltName: Full=ATP-dependent RNA helicase p54; AltName: Full=DEAD box protein 6; AltName: Full=Oncogene RCK; FUNCTION: In the process of mRNA degradation, may play a role in mRNA decapping. CATALYTIC ACTIVITY: ATP + H(2)O = ADP + phosphate. SUBUNIT: Forms a complex with DCP1A, DCP2, EDC3 and EDC4/HEDLS. Interacts with LIMD1, WTIP and AJUBA. INTERACTION: Q9NPI6:DCP1A; NbExp=4; IntAct=EBI-351257, EBI-374238; Q96F86:EDC3; NbExp=2; IntAct=EBI-351257, EBI-997311; SUBCELLULAR LOCATION: Cytoplasm, P-body. Note=Processing bodies (PB). TISSUE SPECIFICITY: Abundantly expressed in most tissues. PTM: Phosphorylated upon DNA damage, probably by ATM or ATR. DISEASE: Note=A chromosomal aberration involving DDX6 may be a cause of hematopoietic tumors such as B-cell lymphomas. Translocation t(11;14)(q23;q32). SIMILARITY: Belongs to the DEAD box helicase family. DDX6/DHH1 subfamily. SIMILARITY: Contains 1 helicase ATP-binding domain. SIMILARITY: Contains 1 helicase C-terminal domain.
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): DDX6 CDC HuGE Published Literature: DDX6 Positive Disease Associations: Liver Cirrhosis, Biliary Related Studies:
Liver Cirrhosis, Biliary George F Mells et al. Nature genetics 2011, Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis., Nature genetics.
[PubMed 21399635]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P26196
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.