RNA helicase Mov10l1
Function
ATP-dependent RNA helicase required during spermatogenesis to repress transposable elements and prevent their mobilization, which is essential for germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons. Involved in the primary piRNA metabolic process. Specifically binds to piRNA precursors and promotes the generation of intermediate piRNA processing fragments that are subsequently loaded to Piwi proteins. Acts via its ATP-dependent RNA helicase activity: displays 5'-3' RNA unwinding activity and probably mediates unwinding and funneling of single-stranded piRNA precursor transcripts to the endonuclease that catalyzes the first cleavage step of piRNA processing to generate piRNA intermediate fragments that are subsequently loaded to Piwi proteins.
Involvement in disease
Spermatogenic failure 73
SPGF73
An autosomal recessive male infertility disorder characterized by non-obstructive azoospermia due to meiotic arrest.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the DNA2/NAM7 helicase family. SDE3 subfamily.
Tissue Specificity
Isoform 1
Specifically expressed in testis.
Cellular localization
- Cytoplasm
- Component of the meiotic nuage, also named P granule, a germ-cell-specific organelle required to repress transposon activity during meiosis.
Alternative names
RNA helicase Mov10l1, Moloney leukemia virus 10-like protein 1, MOV10-like protein 1, MOV10L1