ISY1
Description
The ISY1 (ISY1 splicing factor homolog) is a protein-coding gene located on chromosome 3.
ISY1 is a component of the spliceosome C complex that is required for the selective processing of microRNAs (miRNAs) during embryonic stem cell (ESC) differentiation. It is specifically required for the biogenesis of all miRNAs from the pri-miR-17-92 primary transcript, except for miR-92a. ISY1 is also essential for the biogenesis of miR-290 and miR-96 from the pri-miR-290-295 and pri-miR-96-183 primary transcripts, respectively. This protein plays a crucial role in the transition of ESCs from the naive to primed state, promoting their exit from the naive state to an intermediate state of poised pluripotency. ISY1 enhances miRNA biogenesis, ultimately leading to the transition to the primed state. ISY1 is involved in pre-mRNA splicing as a component of the spliceosome. It has been identified in the spliceosome C complex.
ISY1 is also known as FSAP33.
Associated Diseases
- muscular dystrophy
- transient myeloproliferative syndrome
- pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9
- reticular dysgenesis
