Protein SON

Definition:

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.

References:

[1]. Michael S Y Huen, et al. SON is a spliceosome-associated factor required for mitotic progression. Cell Cycle. 2010 Jul 1;9(13):2679-85. [Content Brief]

[2]. Eun-Young Ahn, et al. SON controls cell-cycle progression by coordinated regulation of RNA splicing. Mol Cell. 2011 Apr 22;42(2):185-98. [Content Brief]

[3]. Jung-Hyun Kim, et al. De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome. Am J Hum Genet. 2016 Sep 1;99(3):711-719. [Content Brief]

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