SON DNA binding protein (SON) (SON)

SON DNA binding protein (SON) is a large, multifunctional nuclear protein that serves as a critical scaffold for nuclear speckles and a co-factor for pre-mRNA splicing. It is particularly essential for the efficient splicing of transcripts with weak or suboptimal splice sites, many of which encode proteins involved in cell cycle progression, DNA repair, and centrosome assembly. Beyond its role in RNA processing, SON acts as a transcriptional repressor, notably for the hepatitis B virus core promoter, and regulates hematopoietic stem cell fate. In clinical contexts, heterozygous loss-of-function mutations in the SON gene cause Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome, a rare multisystem developmental disorder characterized by intellectual disability and brain malformations. Conversely, SON is often overexpressed in various cancers, including pancreatic cancer and leukemia, where it promotes cell survival and tumorigenicity, making it a potential therapeutic target. Recent research has also identified small molecules like pyrvinium pamoate that interact with SON to modulate nuclear speckle dynamics, offering a potential strategy for treating proteinopathies such as Alzheimer's disease.

Other names

Protein SONBax antagonist selected in Saccharomyces 1BASS1Negative regulatory element-binding proteinNREBPProtein DBP-5SON3C21orf50KIAA1019

Modulation of nuclear speckle dynamics and protein quality control via interaction with the intrinsically disordered region of SON; inhibition of oncogenic splicing and cell cycle progression.