SLC17A8

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.

solute carrier family 17 member 8

Multifunctional transporter that transports L-glutamate as well as multiple ions such as chloride, sodium and phosphate (PubMed:33440152, PubMed:12151341).
At the synaptic vesicle membrane, mainly functions as an uniporter that mediates the uptake of L-glutamate into synaptic vesicles at presynaptic nerve terminals of excitatory neural cells (PubMed:12151341).
The L-glutamate uniporter activity is electrogenic and is driven by the proton electrochemical gradient, mainly by the electrical gradient established by the vacuolar H+-ATPase across the synaptic vesicle membrane (PubMed:12151341).
In addition, functions as a chloride channel that allows a chloride permeation through the synaptic vesicle membrane that affects the proton electrochemical gradient and promotes synaptic vesicles acidification (By similarity).
At the plasma membrane, following exocytosis, functions as a symporter of Na+ and phosphate from the extracellular space to the cytoplasm allowing synaptic phosphate homeostasis regulation (Probable). The symporter activity is electrogenic (PubMed:33440152).
Moreover, operates synergistically with SLC18A3/VACHT under a constant H+ gradient, thereby allowing striatal vesicular acetylcholine uptake (By similarity).

Biological Process anion transportManual Assertion Based On ExperimentIBA:GO_Central
Biological Process brain developmentIEA:Ensembl
Biological Process cochlea developmentIEA:Ensembl
Biological Process ion transportTAS:Reactome
Biological Process L-glutamate importISS:UniProtKB
Biological Process L-glutamate transmembrane transportManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process neural retina developmentIEA:Ensembl
Biological Process neurotransmitter loading into synaptic vesicleManual Assertion Based On ExperimentIDA:SynGO
Biological Process phosphate ion homeostasisManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process positive regulation of glutamate uptake involved in transmission of nerve impulseISS:UniProtKB
Biological Process regulation of acetylcholine uptakeISS:UniProtKB
Biological Process regulation of synapse structure or activityManual Assertion Based On ExperimentIBA:GO_Central
Biological Process sensory perception of soundIEA:UniProtKB-KW
Biological Process sodium-dependent phosphate transport1 PublicationIC:UniProtKB
Biological Process synaptic transmission, glutamatergicManual Assertion Based On ExperimentIBA:GO_Central

Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane
Cell membrane
Synapse, synaptosome

Deafness, autosomal dominant, 25 (DFNA25):
A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA25 expression is variable in terms of onset and rate of progression, with an age-dependent penetrance resembling an early-onset presbycusis, or senile deafness, a progressive bilateral loss of hearing that occurs in the aged.

Cytoplasmic: 1-76
Helical: 77-97
Vesicular: 98-130
Helical: 131-151
Cytoplasmic: 152-153
Helical: 154-174
Vesicular: 175-182
Helical: 183-203
Cytoplasmic: 204-221
Helical: 222-242
Vesicular: 243-249
Helical: 250-270
Cytoplasmic: 271-314
Helical: 315-335
Vesicular: 336-353
Helical: 354-374
Cytoplasmic: 375-390
Helical: 391-411
Vesicular: 412-413
Helical: 414-434
Cytoplasmic: 435-447
Helical: 448-468
Vesicular: 469-481
Helical: 482-502
Cytoplasmic: 503-586