DDX3Y, DBY, ATP-dependent RNA helicase DDX3Y, DEAD box protein 3, Y-chromosomal
The protein encoded by this gene is a member of the DEAD-box RNA helicase family, characterized by nine conserved motifs, included the conserved Asp-Glu-Ala-Asp (DEAD) motif. These motifs are thought to be involved in ATP binding, hydrolysis, RNA binding, and in the formation of intramolecular interactions. This protein shares high similarity to DDX3X, on the X chromosome, but a deletion of this gene is not complemented by DDX3X. Mutations in this gene result in male infertility, a reduction in germ cell numbers, and can result in Sertoli-cell only sydrome. Pseudogenes sharing similarity to both this gene and the DDX3X paralog are found on chromosome 4 and the X chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014],disease:DDX3Y is deleted in severe non-obstructive hypospermatogenesis [MIM:400042].,function:Probable ATP-dependent RNA helicase. May play a role in spermatogenesis.,similarity:Belongs to the DEAD box helicase family. DDX3/DED1 subfamily.,similarity:Contains 1 helicase ATP-binding domain.,similarity:Contains 1 helicase C-terminal domain.,subcellular location:Shuttles between the nucleus and the cytoplasm in an XPO1-dependent manner.,subunit:May interact with TDRD3.,tissue specificity:Testis-specific. Expressed predominantly in spermatogonia.,
