Recombinant Human Synaptotagmin-1 (SYT1), partial

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)

Subcellular Location

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

Disease Association

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. [The disease is caused by variants affecting the gene represented in this entry]

Tissue Specificity

Expressed in melanocytes (PubMed:23999003)

Subunit

Homotetramer (Probable). Heterodimer; heterodimerizes with SYT2 in presence of calcium (By similarity). Interacts with SCAMP5 (PubMed:19234194). Interacts with STON2 (PubMed:11381094). Forms a complex with SV2B, syntaxin 1 and SNAP25 (By similarity). Interacts with SV2A, SV2B and SV2C (By similarity). Interacts with RIMS1 (By similarity). Interacts with PRRT2 (By similarity). Interacts with DNAJC5 in a phosphorylation-dependent manner (By similarity). Interacts (via N-terminus) with RAB3A (By similarity). Interacts with SYT12 (By similarity). Interacts with calmodulin (By similarity). Interacts with DNM1 (via C-terminal proline-rich domain (PRD)); this interaction facilitates vesicle fission during clathrin-mediated endocytosis (CME) (By similarity)

• Perin M.S. et al. Structural and functional conservation of synaptotagmin (p65) in Drosophila and humans. — J. Biol. Chem. (1991)
• Ota T. et al. Complete sequencing and characterization of 21,243 full-length human cDNAs. — Nat. Genet. (2004)
• Bechtel S. et al. The full-ORF clone resource of the German cDNA consortium. — BMC Genomics (2007)
• Mural R.J. et al. PubMed: CI-56FT96O07V0QG (JUL-)
• The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). — Genome Res. (2004)
• Martina J.A. et al. Stonin 2: an adaptor-like protein that interacts with components of the endocytic machinery. — J. Cell Biol. (2001)
• Han C. et al. Human SCAMP5, a novel secretory carrier membrane protein, facilitates calcium-triggered cytokine secretion by interaction with SNARE machinery. — J. Immunol. (2009)
• Rigbolt K.T. et al. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. — Sci. Signal. (2011)