Disease:Defects in SYN1 are a cause of epilepsy X-linked with variable learning disabilities and behavior disorders [MIM:300491]. XELBD is characterized by variable combinations of epilepsy , learning difficulties , macrocephaly , and aggressive behavior. ,Function:Neuronal phosphoprotein that coats synaptic vesicles , binds to the cytoskeleton , and is believed to function in the regulation of neurotransmitter release. The complex formed with NOS1 and CAPON proteins is necessary for specific nitric-oxid functions at a presynaptic level. ,PTM:Substrate of at least four different protein kinases. It is probable that phosphorylation plays a role in the regulation of synapsin-1 in the nerve terminal. Phosphorylated upon DNA damage , probably by ATM or ATR. ,similarity:Belongs to the synapsin family. ,subunit:Homodimer. Interacts with CAPON. Forms a ternary complex with NOS1. Isoform Ib interacts with PRNP. ,
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