SLC18A3 Gene Summary [Human]
This gene is a member of the vesicular amine transporter family. The encoded transmembrane protein transports acetylcholine into secretory vesicles for release into the extracellular space. Acetylcholine transport utilizes a proton gradient established by a vacuolar ATPase. This gene is located within the first intron of the choline acetyltransferase gene. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | SLC18A3 |
| Official Name | solute carrier family 18 member A3 [Source:HGNC Symbol;Acc:HGNC:10936] |
| Ensembl ID | ENSG00000187714 |
| Bio databases IDs | |
| Aliases | solute carrier family 18 member A3 |
| Synonyms | CMS21, rVAT, solute carrier family 18 member A3, solute carrier family 18 (vesicular monoamine), member 3, VACHT, VAT, Vchat, Vesicular Acetylcholine Transporter |
| 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 SLC18A3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- monoamine:hydrogen antiporter
- monoamine transporter
- dileucine internalization motif
- acetylcholine:hydrogen antiporter
- serine phosphorylation site
- Major Facilitator Superfamily
- Multidrug resistance protein
- acetylcholine transporter
- protein binding
- cytosolic tail domain
- transporter
- phosphorylation site
Pathways
Biological processes and signaling networks where the SLC18A3 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
- uterine leiomyoma
- endometriosis
- fibrosis
- Huntington disease
- hypotonia
- MYCN amplification positive aggressive neuroblastoma
- neuroblastoma formation
- renal cancer
- Hodgkin lymphoma
- Hodgkin disease
role in cell
- expression in
- apoptosis
- proliferation
- migration
- signaling in
- number
- quantity
- size
- necrosis
- development
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- synaptic vesicle membrane
- endocytic vesicle membrane
- cytoplasmic vesicle membrane
- cholinergic bouton
- Cytoplasm
- perinuclear region
- cellular membrane
- endosomes
- vesicles
- Golgi Apparatus
- Endoplasmic Reticulum
- microtubules
- synaptic vesicles
- neuromuscular junctions
- neurites
- nerve ending
- synapse
- early endosomes
- dense-core vesicles
- synaptic-like microvesicles
- membrane processes
- motor endplates
- perikaryon
- axons
- dendrites
- axon terminals
- presynaptic terminals
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SLC18A3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- neurotransmitter transport
- serotonin uptake
- positive regulation of acetylcholine secretion
- acetylcholine uptake
- positive regulation of long-term synaptic potentiation
- synaptic transmission
Cellular Component
Where in the cell the gene product is active
- clathrin sculpted acetylcholine transport vesicle membrane
- clathrin-coated endocytic vesicle membrane
- terminal button
- AP-1 adaptor complex
- synaptic vesicle membrane
- AP-2 adaptor complex
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- monoamine:hydrogen antiporter activity
- protein binding
- acetylcholine transmembrane transporter activity
- acetylcholine:hydrogen antiporter activity