PIWIL1
Description
The PIWIL1 (piwi like RNA-mediated gene silencing 1) is a protein-coding gene located on chromosome 12.
Piwi-like protein 1 is a protein that in humans is encoded by the PIWIL1 gene. 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.
PIWIL1 is an endoribonuclease that plays a crucial role in the development of germ cells after birth. It primarily functions by suppressing transposable elements and preventing their movement, which is essential for the integrity of the germline. PIWIL1 operates through the piRNA metabolic pathway, a process that involves forming complexes of piRNAs and Piwi proteins. These complexes contribute to the methylation and subsequent repression of transposons during meiosis. PIWIL1 directly binds to methylated piRNAs, which are short RNA sequences (24-30 nucleotides) produced independently of the Dicer enzyme. These piRNAs are primarily derived from transposons and other repetitive DNA sequences. PIWIL1 exhibits a strong preference for a uridine nucleotide in the first position of its guide sequence (g1U preference). However, it is not involved in the piRNA amplification loop (ping-pong cycle). PIWIL1 acts as an endoribonuclease, cleaving transposon messenger RNAs. While piRNAs are known for their role in suppressing transposons, they are also likely involved in regulating translation during meiosis. PIWIL1 is likely a component of certain RISC complexes, which mediate RNA cleavage and translational silencing. It contributes to the formation of chromatoid bodies and is required for the stability of some miRNAs. PIWIL1 sequesters RNF8 in the cytoplasm until the late stages of spermatogenesis. Upon ubiquitination and degradation of PIWIL1, RNF8 is released.
PIWIL1 is also known as CT80.1, HIWI, MIWI, PIWI.
Associated Diseases
- partial chromosome Y deletion
- male infertility with teratozoospermia due to single gene mutation
- spermatogenic failure 61
- spermatogenic failure 74
- spermatogenic failure 73
- spermatogenic failure 48
- spermatogenic failure 23
- spermatogenic failure 52
- spermatogenic failure 22
- spermatogenic failures 50
- spermatogenic failure 1
