SYT1 Gene Summary [Human]
This gene encodes a member of the synaptotagmin protein family. The synaptotagmins are integral membrane proteins of synaptic vesicles that serve as calcium sensors in the process of vesicular trafficking and exocytosis. The encoded protein participates in triggering neurotransmitter release at the synapse in response to calcium binding. Mutations in this gene are associated with Baker-Gordon syndrome. [provided by RefSeq, Jan 2023]
Details
| Type | Protein Coding |
| Official Symbol | SYT1 |
| Official Name | synaptotagmin 1 [Source:HGNC Symbol;Acc:HGNC:11509] |
| Ensembl ID | ENSG00000067715 |
| Bio databases IDs | |
| Aliases | synaptotagmin 1 |
| Synonyms | BAGOS, G630098F17Rik, LOC100129021, P65, SVP65, SYNAPTOTAGMIN 1, synaptotagmin I, SYT, SytI |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SYT1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- SNARE binding
- N-terminal domain of synaptotagmin-1 and -2
- protein binding activity, bridging
- clathrin binding
- identical protein binding
- syntaxin binding
- syntaxin-3 binding
- cytoplasmic domain
- syntaxin-1 binding
- phosphatidylinositol-4,5-bisphosphate binding
- C2 domain
- phospholipid binding
- calcium-dependent protein binding
- lysine rich domain
- lipid binding
- calmodulin binding
- calcium-dependent phospholipid binding
- calcium ion binding
- protein binding
- low-density lipoprotein receptor binding
- phospholipid binding domain
- binding protein
- spacer domain
- lumenal domain
- transmembrane domain
- Protein kinase C conserved region 2 (CalB)
- protein heterodimerization
- transporter
Pathways
Biological processes and signaling networks where the SYT1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- COVID-19
- systemic lupus erythematosus
- Baker-Gordon syndrome
- schizophrenia
- bladder exstrophy
- hereditary disorder
- intoxication
- colorectal cancer
- pervasive developmental disorder
- neurodevelopmental disorder
role in cell
- formation in
- migration
- synthesis in
- secretion
- exocytosis
- docking
- density
- formation
- fusion
- presence
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- plasma membrane fraction
- membrane fraction
- synaptic vesicle membrane
- glutaminergic synapse
- endocytic vesicle membrane
- cytoplasmic vesicle membrane
- intracellular space
- cellular membrane
- cell cortex
- Plasma Membrane
- vesicles
- Golgi Apparatus
- granules
- cytosol
- presynaptic membrane
- postsynaptic membrane
- basolateral membrane
- synaptic vesicles
- growth cone
- neurites
- nerve ending
- synaptosomes
- synapse
- photoreceptor outer segments
- transport vesicles
- dense-core vesicles
- secretory vesicles
- endocytotic vesicle
- synaptic-like microvesicles
- secretory granules
- membrane processes
- axons
- postsynaptic density
- presynaptic terminals
- excitatory synapses
- chromaffin vesicles
- clathrin-coated vesicles
- immature secretory granules
- mature secretory granules
- detergent-soluble fraction
- synaptic vesicle fractions
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SYT1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of synaptic transmission
- synaptic transmission
- protein heterooligomerization
- neurotransmitter secretion
- detection of calcium ion
- calcium ion-dependent exocytosis of neurotransmitter
- cellular response to calcium ion
- synaptic vesicle endocytosis
- vesicle docking
- cell differentiation
- regulation of exocytosis
- positive regulation of dopamine secretion
- regulation of synaptic transmission, glutamatergic
- synchronous neurotransmitter secretion
Cellular Component
Where in the cell the gene product is active
- presynaptic membrane
- clathrin sculpted gamma-aminobutyric acid transport vesicle membrane
- clathrin sculpted acetylcholine transport vesicle membrane
- synaptic vesicle
- excitatory synapse
- chromaffin granule membrane
- Golgi apparatus
- neuron projection
- clathrin sculpted glutamate transport vesicle membrane
- neuron projection terminus
- plasma membrane
- exocytic vesicle
- clathrin sculpted monoamine transport vesicle membrane
- clathrin-coated endocytic vesicle membrane
- cytoplasm
- dense core granule
- synaptic vesicle membrane
- axon
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- calcium-dependent protein binding
- SNARE binding
- calcium-dependent phospholipid binding
- syntaxin-3 binding
- phosphatidylinositol-4,5-bisphosphate binding
- phosphatidylserine binding
- calmodulin binding
- low-density lipoprotein particle receptor binding
- protein binding
- protein heterodimerization activity
- calcium ion binding
- syntaxin-1 binding
- clathrin binding