SYT1

Synaptotagmin-1 is a protein that in humans is encoded by the SYT1 gene.^[5]

SYT1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2K45, 2K4A, 2K8M, 2KI6, 2LHA, 2N1T, 2R83, 3F00, 3F01, 3F04, 3F05, 4ISQ, 4V11
Identifiers
Aliases	SYT1, P65, SVP65, SYT, synaptotagmin 1, BAGOS
External IDs	OMIM: 185605; MGI: 99667; HomoloGene: 4122; GeneCards: SYT1; OMA:SYT1 - orthologs
Gene location (Human) Chr. Chromosome 12 (human)[1] Band 12q21.2 Start 78,863,993 bp[1] End 79,452,008 bp[1]
Gene location (Mouse) Chr. Chromosome 10 (mouse)[2] Band 10 D1|10 56.52 cM Start 108,333,511 bp[2] End 108,846,843 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in middle temporal gyrus Brodmann area 23 endothelial cell lateral nuclear group of thalamus orbitofrontal cortex frontal pole superior frontal gyrus pons Brodmann area 10 cerebellar vermis Top expressed in medial dorsal nucleus subiculum medial geniculate nucleus superior frontal gyrus dentate gyrus of hippocampal formation granule cell lateral geniculate nucleus lateral septal nucleus primary motor cortex primary visual cortex neural layer of retina More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein C-terminus binding metal ion binding phosphatidylinositol-4,5-bisphosphate binding calcium ion binding clathrin binding identical protein binding calcium-dependent protein binding phospholipid binding SNARE binding calmodulin binding 1-phosphatidylinositol binding phosphatidylserine binding low-density lipoprotein particle receptor binding syntaxin binding protein binding syntaxin-1 binding calcium-dependent phospholipid binding syntaxin-3 binding protein heterodimerization activity calcium ion sensor activity Cellular component terminal bouton SNARE complex clathrin-sculpted glutamate transport vesicle membrane intracellular organelle cytoplasm transport vesicle membrane synapse integral component of membrane Golgi apparatus cell junction clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane presynaptic membrane dense core granule clathrin-sculpted monoamine transport vesicle membrane neuron projection chromaffin granule membrane membrane excitatory synapse synaptic vesicle secretory granule clathrin-sculpted acetylcholine transport vesicle membrane cytoplasmic vesicle synaptic vesicle membrane plasma membrane integral component of synaptic vesicle membrane axon clathrin-coated vesicle membrane neuron projection terminus exocytic vesicle hippocampal mossy fiber to CA3 synapse glutamatergic synapse Biological process detection of calcium ion positive regulation of vesicle fusion chemical synaptic transmission synaptic vesicle exocytosis positive regulation of calcium ion-dependent exocytosis response to calcium ion regulation of regulated secretory pathway brain development glutamate secretion positive regulation of dendrite extension positive regulation of synaptic transmission regulation of synaptic transmission, glutamatergic regulation of exocytosis synaptic vesicle endocytosis vesicle docking cell differentiation fast, calcium ion-dependent exocytosis of neurotransmitter neurotransmitter secretion cellular response to calcium ion vesicle fusion regulation of calcium ion-dependent exocytosis calcium ion-regulated exocytosis of neurotransmitter regulation of dopamine secretion protein homooligomerization protein heterooligomerization membrane organization vesicle-mediated transport calcium-ion regulated exocytosis calcium-dependent activation of synaptic vesicle fusion spontaneous neurotransmitter secretion synchronous neurotransmitter secretion regulation of synaptic vesicle exocytosis positive regulation of calcium ion-dependent exocytosis of neurotransmitter Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6857 20979 Ensembl ENSG00000067715 ENSMUSG00000035864 UniProt P21579 P46096 RefSeq (mRNA) NM_001135805 NM_001135806 NM_001291901 NM_005639 NM_001252341 NM_001252342 NM_009306 NM_001358501 NM_001358502 NM_001358503 NM_001358504 NM_001358506 RefSeq (protein) NP_001129277 NP_001129278 NP_001278830 NP_005630 NP_001239270 NP_001239271 NP_033332 NP_001345430 NP_001345431 NP_001345432 NP_001345433 NP_001345435 Location (UCSC) Chr 12: 78.86 – 79.45 Mb Chr 10: 108.33 – 108.85 Mb PubMed search [3] [4]
Wikidata
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Function

Synaptotagmins are integral membrane proteins of synaptic vesicles thought to serve as sensors for calcium ions (Ca²⁺) in the process of vesicular trafficking and exocytosis. Calcium ion binding to synaptotagmin I participates in triggering neurotransmitter release at the synapse.^[6] [Supplied by OMIM]^[7]

SYT1 is the master switch responsible for allowing the human brain to release neurotransmitters. SYT1 senses calcium ion concentrations as low as 10 ppm and subsequently signals the SNARE complex to open fusion pores.^[8]

Interactions

SYT1 has been shown to interact with SNAP-25,^[9][10] STX1A^[11][12] and S100A13.^[13][14]

Clinical Significance

Mutations in the SYT1 gene cause a rare neurodevelopmental disorder known as SYT1-associated neurodevelopmental disorder (or Baker-Gordon Syndrome).^[15][16]