SLC6A5 Gene Summary [Human]
This gene encodes a sodium- and chloride-dependent glycine neurotransmitter transporter. This integral membrane glycoprotein is responsible for the clearance of extracellular glycine during glycine-mediated neurotransmission. This protein is found in glycinergic axons and maintains a high presynaptic pool of neurotransmitter at glycinergic synapses. Mutations in this gene cause hyperekplexia; a heterogenous neurological disorder characterized by exaggerated startle responses and neonatal apnea. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
Details
| Type | Protein Coding |
| Official Symbol | SLC6A5 |
| Official Name | solute carrier family 6 member 5 [Source:HGNC Symbol;Acc:HGNC:11051] |
| Ensembl ID | ENSG00000165970 |
| Bio databases IDs | |
| Aliases | solute carrier family 6 member 5, glycine transporter 2 |
| Synonyms | GLYT-2, HKPX3, NET1, prestin, solute carrier family 6 member 5, solute carrier family 6 (neurotransmitter transporter, glycine), member 5 |
| 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 SLC6A5 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- glycine:sodium symporter
- Sodium:neurotransmitter symporter family
- glycine transporter
- Solute carrier families 5 and 6-like; solute binding domain
- PDZ binding motif
- transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- insulin-dependent diabetes mellitus
- autosomal recessive hyperekplexia type 3
- autosomal dominant hyperekplexia type 3
- postoperative pain
- tremor
- hereditary disorder
- acute pain
- weight gain
- hypertonia
- hyperekplexia
role in cell
- transmission
- binding in
- endocytosis in
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
- cell surface
- membrane surface
- cellular membrane
- endosomes
- vesicles
- apical membrane
- presynaptic membrane
- synaptic vesicles
- nerve ending
- synapse
- dense-core vesicles
- secretory granules
- membrane processes
- perikaryon
- dendrites
- axon terminals
- presynaptic terminals
- postsynaptic terminals
- inhibitory synapse
- detergent-soluble fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SLC6A5 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- neurotransmitter transport
- synaptic transmission, glycinergic
- synaptic transmission
- sodium ion transmembrane transport
Cellular Component
Where in the cell the gene product is active
- presynaptic membrane
- endosome
- membrane
- dense core granule
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- glycine:sodium symporter activity
- metal ion binding