Summary
Performance
Immunogen
Application
Background
This locus encodes a member of the MADS box transcription enhancer factor 2 (MEF2) family of proteins, which play a role in myogenesis. The encoded protein, MEF2 polypeptide C, has both trans-activating and DNA binding activities. This protein may play a role in maintaining the differentiated state of muscle cells. Mutations and deletions at this locus have been associated with severe mental retardation, stereotypic movements, epilepsy, and cerebral malformation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010],alternative products:Additional isoforms seem to exist,developmental stage:Expression is highest during the early stages of postnatal development, at later stages levels greatly decrease.,domain:The beta domain, missing in a number of isoforms, is required for enhancement of transcriptional activity.,function:Transcription activator which binds specifically to the MEF2 element present in the regulatory regions of many muscle-specific genes. Controls cardiac morphogenesis and myogenesis, and is also involved in vascular development. May also be involved in neurogenesis and in the development of cortical architecture (By similarity). Isoform 3 and isoform 4, which lack the repressor domain, are more active than isoform 1 and isoform 2.,PTM:Acetylated by p300 on several sites in diffentiating myocytes. Acetylation on Lys-4 increases DNA binding and transactivation.,PTM:Phosphorylation on Ser-59 enhances DNA binding activity (By similarity). Phosphorylation on Ser-396 is required for Lys-391 sumoylation and inhibits transcriptional activity.,PTM:Proteolytically cleaved in cerebellar granule neurons, probably by caspase 7, following neurotoxicity. Preferentially cleaves the CDK5-mediated hyperphosphorylated form which leads to neuron apoptosis and transcriptional inactivation.,PTM:Sumoylated on Lys-391 by SUMO2 but not by SUMO1 represses transcriptional activity.,similarity:Belongs to the MEF2 family.,similarity:Contains 1 MADS-box domain.,similarity:Contains 1 Mef2-type DNA-binding domain.,subunit:Forms a complex with class II HDACs in undifferentiating cells. On myogenic differentiation, HDACs are released into the cytoplasm allowing MEF2s to interact with other proteins for activation. Interacts with EP300 in differentiating cells; the interaction acetylates MEF2C leading to increased DNA binding and activation. Interacts with HDAC7 and CARM1 (By similarity). Interacts with HDAC4, HDAC7 AND HDAC9; the interaction WITH HDACs represses transcriptional activity.,tissue specificity:Expressed in brain and skeletal muscle.,
Research Area
AMPK; Protein_Acetylation; MAPK_ERK_Growth;MAPK_G_Protein