DDX6
Function
Essential for the formation of P-bodies, cytosolic membrane-less ribonucleoprotein granules involved in RNA metabolism through the coordinated storage of mRNAs encoding regulatory functions (PubMed:25995375, PubMed:27342281, PubMed:31422817). Plays a role in P-bodies to coordinate the storage of translationally inactive mRNAs in the cytoplasm and prevent their degradation (PubMed:27342281). In the process of mRNA degradation, plays a role in mRNA decapping (PubMed:16364915). Blocks autophagy in nutrient-rich conditions by repressing the expression of ATG-related genes through degradation of their transcripts (PubMed:26098573).
Involvement in disease
Intellectual developmental disorder with impaired language and dysmorphic facies
IDDILF
An autosomal dominant disorder characterized by intellectual disability, developmental delay, impaired language development, and dysmorphic features including telecanthus, epicanthus, arched eyebrows and low-set ears. Additional features include feeding difficulties, mild cardiac or genitourinary defects, and distal skeletal anomalies.
None
The disease is caused by variants affecting the gene represented in this entry.
A chromosomal aberration involving DDX6 may be a cause of hematopoietic tumors such as B-cell lymphomas. Translocation t(11;14)(q23;q32).
Post-translational modifications
Sumoylated (PubMed:26184334).
Sequence Similarities
Belongs to the DEAD box helicase family. DDX6/DHH1 subfamily.
Tissue Specificity
Abundantly expressed in most tissues.
Cellular localization
- Cytoplasm
- P-body
- Cytoplasm
- Nucleus
- Cytoplasm
- Cytoplasmic ribonucleoprotein granule
- Imported in the nucleus via interaction with EIF4ENIF1/4E-T via a piggy-back mechanism (PubMed:28216671). Upon cellular stress, relocalizes to stress granules (PubMed:26184334).
Alternative names
HLR2, RCK, DDX6, Probable ATP-dependent RNA helicase DDX6, ATP-dependent RNA helicase p54, DEAD box protein 6, Oncogene RCK