DDX6
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]
Full Name
DEAD-Box Helicase 6
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).
Biological Process
Exonucleolytic catabolism of deadenylated mRNA Source: Reactome
Negative regulation of neuron differentiation Source: Ensembl
Negative regulation of translation Source: UniProtKB
P-body assembly Source: UniProtKB
Positive regulation of miRNA mediated inhibition of translation Source: UniProtKB
Spermatid differentiation Source: Ensembl
Stem cell population maintenance Source: Ensembl
Stress granule assembly Source: GO_Central
Viral RNA genome packaging Source: CACAO
Cellular Location
Nucleus; Cytoplasm; P-body. 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).
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.
A chromosomal aberration involving DDX6 may be a cause of hematopoietic tumors such as B-cell lymphomas. Translocation t(11;14)(q23;q32).
PTM
Sumoylated (PubMed:26184334).