SIN3A
Function
Acts as a transcriptional repressor. Corepressor for REST. Interacts with MXI1 to repress MYC responsive genes and antagonize MYC oncogenic activities. Also interacts with MXD1-MAX heterodimers to repress transcription by tethering SIN3A to DNA. Acts cooperatively with OGT to repress transcription in parallel with histone deacetylation. Involved in the control of the circadian rhythms. Required for the transcriptional repression of circadian target genes, such as PER1, mediated by the large PER complex through histone deacetylation. Cooperates with FOXK1 to regulate cell cycle progression probably by repressing cell cycle inhibitor genes expression (By similarity). Required for cortical neuron differentiation and callosal axon elongation (By similarity).
Involvement in disease
Witteveen-Kolk syndrome
WITKOS
An autosomal dominant syndrome characterized by global developmental delay, mild to severe intellectual disability, and facial dysmorphism. Additional features include short stature, microcephaly, joint hypermotility, and small hands and feet with digital abnormalities. Brain imaging shows dilated ventricles, thin corpus callosum and, in some cases, dysgyria or polymicrogyria.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
SUMO1 sumoylated by TOPORS. Probably desumoylated by SENP2.
Tissue Specificity
Expressed in the developing brain, with highest levels of expression detected in the ventricular zone of various cortical regions.
Cellular localization
- Nucleus
- Nucleus
- Nucleolus
- Recruited to the nucleolus by SAP30L.
Alternative names
Paired amphipathic helix protein Sin3a, Histone deacetylase complex subunit Sin3a, Transcriptional corepressor Sin3a, SIN3A