SYNGAP1 Peptide - C-Terminal Region Blocking Peptide

This gene encodes a Ras GTPase activating protein that is a member of the N-methyl-D-aspartate receptor complex. The N-terminal domain of the protein contains a Ras-GAP domain, a pleckstrin homology domain, and a C2 domain that may be involved in binding of calcium and phospholipids. The C-terminal domain consists of a ten histidine repeat region, serine and tyrosine phosphorylation sites, and a T/SXV motif required for postsynaptic scaffold protein interaction. The encoded protein negatively regulates Ras, Rap and alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor trafficking to the postsynaptic membrane to regulate synaptic plasticity and neuronal homeostasis. Allelic variants of this gene are associated with intellectual disability and autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]

SynGAP: an excitatory synapse-specific RasGAP. Member of the NMDAR signaling complex in excitatory synapses it may play a role in NMDAR-dependent control of AMPAR potentiation and synaptic plasticity. ERK activation is up-regulated in neurons from SynGAP knockout mice, whereas P38 MAPK function is depressed. May play a critical role in the regulation of neuronal MAPK signaling, AMPAR membrane trafficking, and excitatory synaptic transmission. Interacts with CAMK2A/CAMK2B and MPDZ. Phosphorylated by CaM-kinase II. Dephosphorylated upon NMDA receptor activation or SYNGAP1/MPDZ complex disruption. Contains a PH domain and a Ras-GAP domain. Two alternatively spliced isoforms have been described.

Protein type: GAPs, Ras; GAPs

Chromosomal Location of Human Ortholog: 6p21.3

Cellular Component: cytoplasm; dendritic shaft

Molecular Function: SH3 domain binding

Biological Process: regulation of long-term neuronal synaptic plasticity; regulation of MAPKKK cascade; regulation of synapse structure and activity; Ras protein signal transduction; dendrite development; regulation of synaptic plasticity; visual learning; negative regulation of Ras protein signal transduction; negative regulation of axonogenesis; negative regulation of neuron apoptosis; pattern specification process; receptor clustering

Disease: Mental Retardation, Autosomal Dominant 5