SON

This gene encodes a protein that contains multiple simple repeats. The encoded protein binds RNA and promotes pre-mRNA splicing, particularly of transcripts with poor splice sites. The protein also recognizes a specific DNA sequence found in the human hepatitis B virus (HBV) and represses HBV core promoter activity. There is a pseudogene for this gene on chromosome 1. Alternative splicing results in multiple transcript variants.

Full Name

Son DNA binding protein

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).

Biological Process

Biological Process microtubule cytoskeleton organizationManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process mitotic cytokinesisManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process mRNA processingManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process negative regulation of apoptotic processManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process regulation of cell cycleManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process regulation of mRNA splicing, via spliceosomeManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process regulation of RNA splicingManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process RNA splicingIEA:UniProtKB-KW

Cellular Location

Nucleus speckle
Colocalizes with the pre-mRNA splicing factor SRSF2.

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.