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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SLC1A1
solute carrier family 1 member 1
Chromosome 9 Β· 9p24.2
NCBI Gene: 6505Ensembl: ENSG00000106688.13HGNC: HGNC:10939UniProt: P43005
135PubMed Papers
22Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
chloride transmembrane transporter activityL-glutamate transmembrane transportL-glutamate import across plasma membraneglutamate:sodium symporter activitydicarboxylic aminoaciduriajoint diseaseschizophreniaSensorineural hearing impairment
✦AI Summary

SLC1A1 encodes EAAT3 (excitatory amino acid transporter 3), a high-affinity sodium-dependent transporter that mediates cellular uptake of glutamate, aspartate, and cysteine. The protein functions as a symporter, transporting amino acids with 2-3 Na+ ions and one proton while counter-transporting K+ ions. In the nervous system, SLC1A1 plays a critical role in glutamate homeostasis and synaptic function, with loss-of-function studies demonstrating reduced dopamine signaling in basal ganglia circuits and impaired responses to amphetamine stimulation 1. The transporter contributes to metabolic reprogramming in cancer, particularly in natural killer T-cell lymphoma where SLC1A1 promotes glutamine addiction and tumor growth while modulating immune responses through PD-L1 regulation 2. In renal cell carcinoma, SLC1A1 functions as a metabolic dependency, sustaining oncogenic programs through aspartate/glutamate transport and representing a therapeutic target 3. Genetic variants in SLC1A1 show weak associations with obsessive-compulsive disorder, particularly in male patients 4, and reduced SLC1A1 protein levels have been observed in OCD patients 5. The transporter's role extends beyond neurotransmitter recycling to include metabolic support for cellular processes and pathological conditions.

Sources cited
1
SLC1A1 loss prevents amphetamine-induced locomotor activity, stereotypy, and immediate early gene induction in dorsal striatum
PMID: 28507136
2
SLC1A1 promotes glutamine addiction and tumor growth in NK T-cell lymphoma while modulating PD-L1 expression
PMID: 34628354
3
SLC1A1 is a metabolic dependency in clear cell renal cell carcinoma, sustaining oncogenic metabolic programs
PMID: 41238532
4
Weak association between SLC1A1 variants and obsessive-compulsive disorder, especially in male patients
PMID: 23606572
5
Reduced SLC1A1 protein levels observed in OCD patients compared to controls
PMID: 38593060
Disease Associationsβ“˜22
dicarboxylic aminoaciduriaOpen Targets
0.63Moderate
joint diseaseOpen Targets
0.40Weak
schizophreniaOpen Targets
0.38Weak
Sensorineural hearing impairmentOpen Targets
0.37Weak
premature birthOpen Targets
0.33Weak
cartilage diseaseOpen Targets
0.31Weak
response to antipsychotic drugOpen Targets
0.30Weak
tricuspid valve diseaseOpen Targets
0.29Weak
neurodegenerative diseaseOpen Targets
0.27Weak
Rare genetic intellectual disability with developmental anomalyOpen Targets
0.27Weak
oral mucosa leukoplakiaOpen Targets
0.25Weak
medical procedureOpen Targets
0.24Weak
osteoarthritis, kneeOpen Targets
0.24Weak
placenta praeviaOpen Targets
0.23Weak
ulcerative colitisOpen Targets
0.23Weak
preeclampsiaOpen Targets
0.22Weak
tibia fractureOpen Targets
0.22Weak
injuryOpen Targets
0.21Weak
benign neoplasmOpen Targets
0.19Weak
hypothyroidismOpen Targets
0.16Weak
Dicarboxylic aminoaciduriaUniProt
Schizophrenia 18UniProt
Pathogenic Variants2
NM_004170.6(SLC1A1):c.1264G>A (p.Val422Met)Likely pathogenic
Cerebral visual impairment and intellectual disability
β˜…β˜†β˜†β˜†2015β†’ Residue 422
nsv1067898Pathogenic
Schizophrenia 18
β˜†β˜†β˜†β˜†2013
View on ClinVar β†—
Related Genes
ARL6IP5Protein interaction96%ADCY6Protein interaction76%SLC3A1Protein interaction76%ATP1B3Protein interaction76%PAIP2BProtein interaction76%DLGAP3Protein interaction75%
Tissue Expression6 tissues
Liver
100%
Brain
19%
Lung
16%
Heart
6%
Ovary
1%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
SLC1A1ARL6IP5ADCY6SLC3A1ATP1B3PAIP2BDLGAP3
PROTEIN STRUCTURE
Preparing viewer…
PDB8CUA Β· 2.44 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.04LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.77 [0.57–1.04]
RankingsWhere SLC1A1 stands among ~20K protein-coding genes
  • #3,436of 20,598
    Most Researched135 Β· top quartile
  • #4,280of 5,498
    Most Pathogenic Variants2
  • #10,396of 17,882
    Most Constrained (LOEUF)1.04
Genes detectedSLC1A1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
SLC1A1 mediated glutamine addiction and contributed to natural killer T-cell lymphoma progression with immunotherapeutic potential.
PMID: 34628354
EBioMedicine Β· 2021
1.00
2
Meta-analysis of association between obsessive-compulsive disorder and the 3' region of neuronal glutamate transporter gene SLC1A1.
PMID: 23606572
Am J Med Genet B Neuropsychiatr Genet Β· 2013
0.90
3
Impaired neuronal macroautophagy in the prelimbic cortex contributes to comorbid anxiety-like behaviors in rats with chronic neuropathic pain.
PMID: 38522078
Autophagy Β· 2024
0.80
4
OCD candidate gene
PMID: 28507136
Proc Natl Acad Sci U S A Β· 2017
0.70
5
SLC1A1 Gene Variants and Normal Tension Glaucoma: An Association Study.
PMID: 26771863
Ophthalmic Genet Β· 2016
0.60