This gene encodes a member of the PIWI subfamily of Argonaute proteins, evolutionarily conserved proteins containing both PAZ and Piwi motifs that play important roles in stem cell self-renewal, RNA silencing, and translational regulation in diverse organisms. The encoded protein may play a role as an intrinsic regulator of the self-renewal capacity of germline and hematopoietic stem cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]
Forensic Context
A study in mice demonstrated that the PIWIL1 is essential for spermatogenesis and repression of transposons in the male germline [Ross et al. DOI:10.1038/nature12987]. Research in golden hamsters showed that the PIWIL1 binds piRNAs in testis and ovary and is required for fertility, with its deficiency causing meiotic arrest of spermatogenesis and arrest at the 2-cell stage in embryogenesis [Xin Wang et al. DOI:10.1038/s41580-022-00528-0].