External Ids for SYN1 Gene
Previous GeneCards Identifiers for SYN1 Gene
This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases. This member of the synapsin family plays a role in regulation of axonogenesis and synaptogenesis. The protein encoded serves as a substrate for several different protein kinases and phosphorylation may function in the regulation of this protein in the nerve terminal. Mutations in this gene may be associated with X-linked disorders with primary neuronal degeneration such as Rett syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
GeneCards Summary for SYN1 Gene
SYN1 (Synapsin I) is a Protein Coding gene. Diseases associated with SYN1 include epilepsy, x-linked, with variable learning disabilities and behavior disorders and x-linked epilepsy-learning disabilities-behavior disorders syndrome. Among its related pathways are Neurotransmitter Release Cycle and Transmission across Chemical Synapses. GO annotations related to this gene include protein kinase binding and transporter activity. An important paralog of this gene is SYN2.
UniProtKB/Swiss-Prot for SYN1 Gene
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.