SLC1A1

This gene encodes a member of the high-affinity glutamate transporters that play an essential role in transporting glutamate across plasma membranes. In brain, these transporters are crucial in terminating the postsynaptic action of the neurotransmitter glutamate, and in maintaining extracellular glutamate concentrations below neurotoxic levels. This transporter also transports aspartate, and mutations in this gene are thought to cause dicarboxylicamino aciduria, also known as glutamate-aspartate transport defect. [provided by RefSeq, Mar 2010]

Solute Carrier Family 1 Member 1

Sodium-dependent, high-affinity amino acid transporter that mediates the uptake of L-glutamate and also L-aspartate and D-aspartate (PubMed:7914198, PubMed:7521911, PubMed:8857541, PubMed:26690923, PubMed:21123949, PubMed:33658209).
Can also transport L-cysteine (PubMed:21123949).
Functions as a symporter that transports one amino acid molecule together with two or three Na+ ions and one proton, in parallel with the counter-transport of one K+ ion (PubMed:7521911, PubMed:8857541, PubMed:26690923, PubMed:33658209).
Mediates Cl- flux that is not coupled to amino acid transport; this avoids the accumulation of negative charges due to aspartate and Na+ symport (PubMed:8857541, PubMed:26690923).
Plays an important role in L-glutamate and L-aspartate reabsorption in renal tubuli (PubMed:21123949).
Plays a redundant role in the rapid removal of released glutamate from the synaptic cleft, which is essential for terminating the postsynaptic action of glutamate (By similarity).
Contributes to glutathione biosynthesis and protection against oxidative stress via its role in L-glutamate and L-cysteine transport (By similarity).
Negatively regulated by ARL6IP5 (By similarity).

Biological Process activation of cysteine-type endopeptidase activity involved in apoptotic processIEA:Ensembl
Biological Process activation of protein kinase B activityIEA:Ensembl
Biological Process adult behaviorIEA:Ensembl
Biological Process behavioral fear responseIEA:Ensembl
Biological Process blood vessel morphogenesisISS:ARUK-UCL
Biological Process brain developmentIEA:Ensembl
Biological Process cellular response to ammonium ionIEA:Ensembl
Biological Process cellular response to bisphenol AIEA:Ensembl
Biological Process cellular response to cocaineIEA:Ensembl
Biological Process cellular response to mercury ionIEA:Ensembl
Biological Process cellular response to organic cyclic compoundManual Assertion Based On ExperimentIDA:MGI
Biological Process cellular zinc ion homeostasisIEA:Ensembl
Biological Process chemical synaptic transmissionManual Assertion Based On ExperimentTAS:ProtInc
Biological Process chloride transmembrane transportManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process conditioned place preferenceIEA:Ensembl
Biological Process cysteine transportManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process cytokine-mediated signaling pathwayIEA:Ensembl
Biological Process D-aspartate import across plasma membraneManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process D-aspartate transportManual Assertion Based On ExperimentIDA:ARUK-UCL
Biological Process dopamine metabolic processIEA:Ensembl
Biological Process dopamine receptor signaling pathwayIEA:Ensembl
Biological Process gene expressionIEA:Ensembl
Biological Process glutamate homeostasisIEA:Ensembl
Biological Process glutamate receptor signaling pathwayIEA:Ensembl
Biological Process glutathione biosynthetic processIEA:Ensembl
Biological Process grooming behaviorIEA:Ensembl
Biological Process heart contractionIEA:Ensembl
Biological Process ion transportTAS:Reactome
Biological Process L-aspartate import across plasma membraneManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process L-aspartate transmembrane transportManual Assertion Based On ExperimentIDA:ARUK-UCL
Biological Process L-glutamate importManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process L-glutamate import across plasma membraneManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process L-glutamate transmembrane transportManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process locomotory behaviorIEA:Ensembl
Biological Process long-term synaptic potentiationIEA:Ensembl
Biological Process maintenance of blood-brain barrierISS:ARUK-UCL
Biological Process memoryIEA:Ensembl
Biological Process motor behaviorIEA:Ensembl
Biological Process motor neuron apoptotic processIEA:Ensembl
Biological Process negative regulation of neuron apoptotic processIEA:Ensembl
Biological Process neurogenesisIEA:Ensembl
Biological Process neuron death in response to oxidative stressISS:ARUK-UCL
Biological Process neurotransmitter receptor transport to plasma membraneIEA:Ensembl
Biological Process neurotransmitter transportTAS:Reactome
Biological Process peptidyl-serine phosphorylationIEA:Ensembl
Biological Process positive regulation of heart rateIEA:Ensembl
Biological Process regulation of protein targeting to membraneIEA:Ensembl
Biological Process response to amphetamineIEA:Ensembl
Biological Process response to anestheticIEA:Ensembl
Biological Process response to axon injuryIEA:Ensembl
Biological Process response to decreased oxygen levelsIEA:Ensembl
Biological Process response to morphineIEA:Ensembl
Biological Process response to xenobiotic stimulusIEA:Ensembl
Biological Process retina layer formationIEA:Ensembl
Biological Process righting reflexIEA:Ensembl
Biological Process superoxide metabolic processIEA:Ensembl
Biological Process synapse organizationIEA:Ensembl
Biological Process transepithelial transportISS:ARUK-UCL
Biological Process transport across blood-brain barrierISS:ARUK-UCL
Biological Process zinc ion transmembrane transportIEA:Ensembl

Cell membrane
Apical cell membrane
Synapse, synaptosome
Early endosome membrane
Late endosome membrane
Recycling endosome membrane

Dicarboxylic aminoaciduria (DCBXA):
An autosomal recessive disorder characterized by abnormal excretion of urinary glutamate and aspartate, resulting from the incomplete reabsorption of anionic amino acids from the glomerular filtrate in the kidney. It can be associated with intellectual disability.
Schizophrenia 18 (SCZD18):
A complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder.

Cytoplasmic: 1-18
Helical: 19-38
Extracellular: 39-61
Helical: 62-82
Cytoplasmic: 83-93
Helical: 94-114
Extracellular: 115-205
Helical: 206-229
Cytoplasmic: 230-238
Helical: 239-266
Extracellular: 267-286
Helical: 287-308
Cytoplasmic: 309-313
Helical: 314-344
Extracellular: 345-353
Helical: 354-380
Cytoplasmic: 381-393
Helical: 394-427
Extracellular: 428-440
Helical: 441-462
Cytoplasmic: 463-524

Glycosylated.