mSin3A est un gène codé par le symbole SIN3A. Communément appelé aussi: Paired amphipathic helix protein Sin3a; Histone deacetylase complex subunit Sin3a; Transcriptional corepressor Sin3a; SIN3A. mSin3A a une masse de 145.18kDa, une longueur d'acide aminé de 1273, et est impliqué dans Witteveen-Kolk syndrome.
Nous proposons 6 des anticorps contre mSin3A, élevé dans Lapin, qui sont appropriés pour le WB, IHC, ICC/IF, IP et ChIP avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé UniProt
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).
Résumé Entrez
The protein encoded by this gene is a transcriptional regulatory protein. It contains paired amphipathic helix (PAH) domains, which are important for protein-protein interactions and may mediate repression by the Mad-Max complex.
Spécificité tissulaire
Expressed in the developing brain, with highest levels of expression detected in the ventricular zone of various cortical regions.
Implication dans la maladie
Witteveen-Kolk syndrome: 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.
Modification post-traductionnelle
SUMO1 sumoylated by TOPORS. Probably desumoylated by SENP2.
Localisation cellulaire
Nucleus. Nucleus > Nucleolus.
Recruited to the nucleolus by SAP30L.
