SLC17A8 Gene Summary [Human]
This gene encodes a vesicular glutamate transporter. The encoded protein transports the neurotransmitter glutamate into synaptic vesicles before it is released into the synaptic cleft. Mutations in this gene are the cause of autosomal-dominant nonsyndromic type 25 deafness. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
Details
| Type | Protein Coding |
| Official Symbol | SLC17A8 |
| Official Name | solute carrier family 17 member 8 [Source:HGNC Symbol;Acc:HGNC:20151] |
| Ensembl ID | ENSG00000179520 |
| Bio databases IDs | |
| Aliases | solute carrier family 17 member 8, vesicular glutamate transporter 3 |
| Synonyms | DFNA25, GVT3, solute carrier family 17 member 8, solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8, VGLUT3, Vgt3 |
| 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 SLC17A8 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- phosphoglycerate transporter family protein
- benzoate transport
- glutamate transporter
- chloride channel
- Major Facilitator Superfamily
- Na(+)-dependent inorganic phosphate cotransporter
- protein binding
- sodium:phosphate symporter
- uniporter
- transporter
Pathways
Biological processes and signaling networks where the SLC17A8 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
- diabetes mellitus
- mechanical hypersensitivity
- autosomal dominant deafness type 25
- cold allodynia
- dyskinesia
- hearing loss
- familial nonsyndromic hearing impairment
- sensorineural hearing loss
- Ewing sarcoma
- osteosarcomagenesis
regulates
- L-glutamic acid
- 5-hydroxytryptamine
- acetylcholine
- neurotransmitter
- ion
role in cell
- quantity
- number
- abnormal morphology
- neurotransmission in
- morphology
- storage in
- accumulation in
- function
- innervation
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
- glutaminergic synapse
- synaptic vesicles
- neurites
- nerve ending
- transport vesicles
- multivesicular bodies
- perikaryon
- axons
- dendrites
- axon terminals
- excitatory synapses
- astrocyte projections
- apical processes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SLC17A8 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- phosphate ion homeostasis
- cochlea development
- L-glutamate import
- anion transport
- regulation of acetylcholine uptake
- sensory perception of sound
- positive regulation of glutamate uptake involved in transmission of nerve impulse
- ion transport
- neural retina development
- sodium-dependent phosphate transport
- regulation of synapse structure and activity
- sodium ion transmembrane transport
- L-glutamate transport
- synaptic transmission, glutamatergic
Cellular Component
Where in the cell the gene product is active
- chloride channel complex
- excitatory synapse
- synaptic vesicle membrane
- multivesicular body
- perikaryon
- plasma membrane
- axon terminus
Molecular Function
What the gene product does at the molecular level
- sodium:phosphate symporter activity
- neurotransmitter transporter activity
- chloride channel activity
- L-glutamate transmembrane transporter activity