SYT1
Domain
The first C2 domain mediates Ca(2+)-dependent phospholipid binding.
The second C2 domain mediates interaction with SV2A and probably with STN2.
Function
Calcium sensor that participates in triggering neurotransmitter release at the synapse (By similarity). May have a regulatory role in the membrane interactions during trafficking of synaptic vesicles at the active zone of the synapse (By similarity). It binds acidic phospholipids with a specificity that requires the presence of both an acidic head group and a diacyl backbone. A Ca(2+)-dependent interaction between synaptotagmin and putative receptors for activated protein kinase C has also been reported. It can bind to at least three additional proteins in a Ca(2+)-independent manner; these are neurexins, syntaxin and AP2. Plays a role in dendrite formation by melanocytes (PubMed:23999003).
Involvement in disease
Baker-Gordon syndrome
BAGOS
An autosomal dominant neurodevelopmental disorder characterized by infantile hypotonia, congenital ophthalmic abnormalities, involuntary and hyperkinetic movements, stereotypic behavior, poor or absent speech, EEG abnormalities, and global developmental delay varying in severity from moderate to profound. Behavioral characteristics include sleep disturbance and episodic agitation.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Glycosylated.
Sequence Similarities
Belongs to the synaptotagmin family.
Tissue Specificity
Expressed in melanocytes (PubMed:23999003).
Cellular localization
- Cytoplasmic vesicle
- Secretory vesicle membrane
- Single-pass membrane protein
- Cytoplasmic vesicle
- Secretory vesicle
- Synaptic vesicle membrane
- Single-pass membrane protein
- Cytoplasmic vesicle
- Secretory vesicle
- Chromaffin granule membrane
- Single-pass membrane protein
- Cytoplasm
Alternative names
SVP65, SYT, SYT1, Synaptotagmin-1, Synaptotagmin I, p65, SytI