SYT1
Description
The SYT1 (synaptotagmin 1) is a protein-coding gene located on chromosome 12.
SYT1 is a gene that encodes the protein synaptotagmin-1, an integral membrane protein found in synaptic vesicles. Synaptotagmin-1 acts as a calcium sensor in the process of vesicular trafficking and exocytosis. Calcium binding to synaptotagmin-1 triggers neurotransmitter release at the synapse. SYT1 is considered the master switch for neurotransmitter release in the brain, sensing calcium concentrations as low as 10 ppm and activating the SNARE complex to open fusion pores. Mutations in the SYT1 gene cause a rare neurodevelopmental disorder called SYT1-associated neurodevelopmental disorder (or Baker-Gordon Syndrome). SYT1 has been shown to interact with SNAP-25, STX1A, and S100A13.
SYT1 is a calcium sensor that triggers neurotransmitter release at the synapse. It plays a regulatory role in the membrane interactions during trafficking of synaptic vesicles at the active zone of the synapse. It binds to acidic phospholipids with a specificity that requires both an acidic head group and a diacyl backbone. SYT1 interacts with putative receptors for activated protein kinase C in a calcium-dependent manner. SYT1 also interacts with neurexins, syntaxin, and AP2 in a calcium-independent manner. SYT1 plays a role in dendrite formation by melanocytes.
SYT1 is also known as BAGOS, P65, SVP65, SYT.
Associated Diseases
- Baker-Gordon syndrome
- Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
