| Predicate | Object |
|---|---|
| rdf:type | |
| http://www.biopax.org/relea... | |
| http://www.biopax.org/relea... |
Myocyte-specific enhancer factor 2C
|
| http://www.biopax.org/relea... |
MEF2C_MOUSE
|
| http://www.biopax.org/relea... | |
| http://www.biopax.org/relea... |
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. Isoform 3 and isoform 4, which lack the repressor domain, are more active than isoform 1, isoform 2 and isoform 5 (By similarity). Plays an essential role in hippocampal-dependent learning and memory by suppressing the number of excitatory synapses and thus regulating basal and evoked synaptic transmission. Crucial for normal neuronal development, distribution, and electrical activity in the neocortex. Necessary for proper development of megakaryocytes and platelets and for bone marrow B lymphopoiesis. Required for B-cell survival and proliferation in response to BCR stimulation, efficient IgG1 antibody responses to T-cell-dependent antigens and for normal induction of germinal center B cells. 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. Interacts with LPIN1. Interacts with MYOCD. SUBCELLULAR LOCATION: Nucleus (By similarity). ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=5; Comment=Additional isoforms seem to exist; Name=1; IsoId=Q8CFN5-1; Sequence=Displayed; Note=No experimental confirmation available; Name=2; IsoId=Q8CFN5-2; Sequence=VSP_012504; Name=3; IsoId=Q8CFN5-3; Sequence=VSP_012505; Name=4; IsoId=Q8CFN5-4; Sequence=VSP_012501, VSP_012502, VSP_012503, VSP_012504, VSP_012505; Name=5; IsoId=Q8CFN5-5; Sequence=VSP_012501, VSP_012502, VSP_012503; TISSUE SPECIFICITY: Widely expressed though mainly restricted to skeletal and cardiac muscle, brain, neurons and lymphocytes. Beta beta domain-lacking isoforms are the most predominantly expressed in all tissues including skeletal and cardiac muscle and brain. Only brain expresses all isoforms. Expression occurs primarily in the internal granule cell layer of the olfactory bulb, cortex, thalamus, hippocampus and cerebellum. Low levels in the cerebellum and hindbrain. Expressed throughout the cortex, including the frontal and entorhinal cortex, dentate gyrus, and basolateral amygdala. Selectively expressed in B-cells but not in T-cells, and its expression increases as B-cells mature. DEVELOPMENTAL STAGE: Expressed in developing endothelial cells and smooth muscle cells, as well as in surrounding mesenchyme, during embryogenesis. Up-regulated during myogenesis. DOMAIN: The beta domain, missing in a number of isoforms, is required for enhancement of transcriptional activity (By similarity). 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: Acetylated by p300 on several sites in diffentiating myocytes (By similarity). Acetylation on Lys-4 increases DNA binding and transactivation. PTM: Sumoylated on Lys-391 by SUMO2 but not by SUMO1 represses transcriptional activity (By similarity). 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 (By similarity). DISRUPTION PHENOTYPE: Mice show impairment in hippocampal- dependent learning and also increase in the number of excitatory synapses and potentiation of basal and evoked synaptic transmission. Mice surviving to adulthood manifest smaller, apparently less mature neurons and smaller whole brain size, with resultant aberrant electrophysiology and behavior. Mice exhibit thrombocytopenia and a defect in B-lymphopoiesis. SIMILARITY: Belongs to the MEF2 family. SIMILARITY: Contains 1 MADS-box domain. SIMILARITY: Contains 1 Mef2-type DNA-binding domain. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.
|
| skos:exactMatch | |
| skos:closeMatch |