SON
Domain
Contains 8 types of repeats which are distributed in 3 regions.
Function
RNA-binding protein that acts as a mRNA splicing cofactor by promoting efficient splicing of transcripts that possess weak splice sites. Specifically promotes splicing of many cell-cycle and DNA-repair transcripts that possess weak splice sites, such as TUBG1, KATNB1, TUBGCP2, AURKB, PCNT, AKT1, RAD23A, and FANCG. Probably acts by facilitating the interaction between Serine/arginine-rich proteins such as SRSF2 and the RNA polymerase II. Also binds to DNA; binds to the consensus DNA sequence: 5'-GA[GT]AN[CG][AG]CC-3'. May indirectly repress hepatitis B virus (HBV) core promoter activity and transcription of HBV genes and production of HBV virions. Essential for correct RNA splicing of multiple genes critical for brain development, neuronal migration and metabolism, including TUBG1, FLNA, PNKP, WDR62, PSMD3, PCK2, PFKL, IDH2, and ACY1 (PubMed:27545680).
Involvement in disease
ZTTK syndrome
ZTTKS
An autosomal dominant syndrome characterized by intellectual disability, developmental delay, malformations of the cerebral cortex, epilepsy, vision problems, musculo-skeletal abnormalities, and congenital malformations.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Widely expressed, with the higher expression seen in leukocyte and heart.
Cellular localization
- Nucleus speckle
- Colocalizes with the pre-mRNA splicing factor SRSF2.
Alternative names
C21orf50, DBP5, KIAA1019, NREBP, HSPC310, HSPC312, SON, Protein SON, Bax antagonist selected in saccharomyces 1, Negative regulatory element-binding protein, Protein DBP-5, SON3, BASS1, NRE-binding protein