SLC1A1 solute carrier family 1 member 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC1A1provided by HGNC
Official Full Name: solute carrier family 1 member 1provided by HGNC
Primary source: HGNC:HGNC:10939
See related: Ensembl:ENSG00000106688 MIM:133550; AllianceGenome:HGNC:10939
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DCBXA; EAAC1; EAAT3; SCZD18; hEAAC1
Summary: 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]
Expression: Biased expression in small intestine (RPKM 11.7), kidney (RPKM 8.4) and 12 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9p24.2

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (4490468..4587469)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (4494107..4591140)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (4490468..4587469)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Epstein-Barr virus infection controls the concentration of the intracellular antioxidant glutathione by upregulation of the glutamate transporter EAAT3 in tumor cells.
Title: Epstein-Barr virus infection controls the concentration of the intracellular antioxidant glutathione by upregulation of the glutamate transporter EAAT3 in tumor cells.
Cryo-EM structures of excitatory amino acid transporter 3 visualize coupled substrate, sodium, and proton binding and transport.
Title: Cryo-EM structures of excitatory amino acid transporter 3 visualize coupled substrate, sodium, and proton binding and transport.
SLC1A1 mediated glutamine addiction and contributed to natural killer T-cell lymphoma progression with immunotherapeutic potential.
Title: SLC1A1 mediated glutamine addiction and contributed to natural killer T-cell lymphoma progression with immunotherapeutic potential.
Neuregulin-1 inhibits CoCl2-induced upregulation of excitatory amino acid carrier 1 expression and oxidative stress in SH-SY5Y cells and the hippocampus of mice.
Title: Neuregulin-1 inhibits CoCl(2)-induced upregulation of excitatory amino acid carrier 1 expression and oxidative stress in SH-SY5Y cells and the hippocampus of mice.
NCX1 and EAAC1 transporters are involved in the protective action of glutamate in an in vitro Alzheimer's disease-like model.
Title: NCX1 and EAAC1 transporters are involved in the protective action of glutamate in an in vitro Alzheimer's disease-like model.
Gateways for Glutamate Neuroprotection in Parkinson's Disease (PD): Essential Role of EAAT3 and NCX1 Revealed in an In Vitro Model of PD.
Title: Gateways for Glutamate Neuroprotection in Parkinson's Disease (PD): Essential Role of EAAT3 and NCX1 Revealed in an In Vitro Model of PD.
SLC1A1, SLC16A9, and CNTN3 Are Potential Biomarkers for the Occurrence of Colorectal Cancer.
Title: SLC1A1, SLC16A9, and CNTN3 Are Potential Biomarkers for the Occurrence of Colorectal Cancer.
Association of SLC1A1 gene polymorphism with obsessive compulsive disorder in a sample from southern India.
Title: Association of SLC1A1 gene polymorphism with obsessive compulsive disorder in a sample from southern India.
[The neuroprotective role of EAAC1 in hippocampal injury following ischemia-reperfusion].
Title: [The neuroprotective role of EAAC1 in hippocampal injury following ischemia-reperfusion].
Lack of SorCS2 causes depletion of EAAT3 from the plasma membrane and impairs neuronal cysteine uptake.
Title: SorCS2 Controls Functional Expression of Amino Acid Transporter EAAT3 and Protects Neurons from Oxidative Stress and Epilepsy-Induced Pathology.

Submit: New GeneRIF Correction See all GeneRIFs (86)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Dicarboxylic aminoaciduria MedGen: C1857253 OMIM: 222730 GeneReviews: Not available	not available
Schizophrenia 18 MedGen: C3808913 OMIM: 615232 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Genetics of coronary artery calcification among African Americans, a meta-analysis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies five loci associated with susceptibility to pancreatic cancer in Chinese populations. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-149694 (e-PCR)
- UniSTS:177168

D9S199 (e-PCR)
- UniSTS:148270

SHGC-35927 (e-PCR)
- UniSTS:48176

D9S1970 (e-PCR)
- UniSTS:31794

RH48870 (e-PCR)
- UniSTS:82535

D9S1982 (e-PCR)
- UniSTS:3722

RH15877 (e-PCR)
- UniSTS:63143

SLC1A1_2172 (e-PCR)
- UniSTS:281004

RH70490 (e-PCR)
- UniSTS:74673

RH11999 (e-PCR)
- UniSTS:7864

G49582 (e-PCR)
- UniSTS:109251

D9S1071E (e-PCR)
- UniSTS:151288

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables D-aspartate transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables L-aspartate transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables L-glutamate transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables L-glutamate transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables chloride transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables cysteine transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables cysteine transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables glutamate binding	IEA Inferred from Electronic Annotation more info
enables glutamate:sodium symporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables glutamate:sodium symporter activity	IDA Inferred from Direct Assay more info	PubMed
enables high-affinity L-glutamate transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables high-affinity L-glutamate transmembrane transporter activity	TAS Traceable Author Statement more info
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables monoatomic anion channel activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in D-aspartate import across plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in D-aspartate import across plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in D-aspartate transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in G protein-coupled dopamine receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in L-aspartate import across plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in L-aspartate import across plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in L-aspartate transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in L-aspartate transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in L-glutamate import	IDA Inferred from Direct Assay more info	PubMed
involved_in L-glutamate import across plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in L-glutamate import across plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in L-glutamate transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in L-glutamate transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in adult behavior	IEA Inferred from Electronic Annotation more info
involved_in behavioral fear response	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within blood vessel morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in brain development	IEA Inferred from Electronic Annotation more info
involved_in cellular response to ammonium ion	IEA Inferred from Electronic Annotation more info
involved_in cellular response to bisphenol A	IEA Inferred from Electronic Annotation more info
involved_in cellular response to cocaine	IEA Inferred from Electronic Annotation more info
involved_in cellular response to mercury ion	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cellular response to organic cyclic compound	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to oxidative stress	IEA Inferred from Electronic Annotation more info
involved_in chemical synaptic transmission	TAS Traceable Author Statement more info	PubMed
involved_in chloride transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in conditioned place preference	IEA Inferred from Electronic Annotation more info
involved_in cysteine transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in cysteine transport	IDA Inferred from Direct Assay more info	PubMed
involved_in cytokine-mediated signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in dopamine metabolic process	IEA Inferred from Electronic Annotation more info
involved_in gene expression	IEA Inferred from Electronic Annotation more info
involved_in glutamate receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in glutathione biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in grooming behavior	IEA Inferred from Electronic Annotation more info
involved_in heart contraction	IEA Inferred from Electronic Annotation more info
involved_in intracellular glutamate homeostasis	IEA Inferred from Electronic Annotation more info
involved_in intracellular zinc ion homeostasis	IEA Inferred from Electronic Annotation more info
involved_in locomotory behavior	IEA Inferred from Electronic Annotation more info
involved_in long-term synaptic potentiation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within maintenance of blood-brain barrier	ISS Inferred from Sequence or Structural Similarity more info
involved_in memory	IEA Inferred from Electronic Annotation more info
involved_in monoatomic ion transport	TAS Traceable Author Statement more info
involved_in motor behavior	IEA Inferred from Electronic Annotation more info
involved_in motor neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in neurogenesis	IEA Inferred from Electronic Annotation more info
involved_in neurotransmitter receptor transport to plasma membrane	IEA Inferred from Electronic Annotation more info
involved_in neurotransmitter transport	TAS Traceable Author Statement more info
involved_in positive regulation of heart rate	IEA Inferred from Electronic Annotation more info
involved_in postsynaptic modulation of chemical synaptic transmission	IEA Inferred from Electronic Annotation more info
involved_in regulation of protein targeting to membrane	IEA Inferred from Electronic Annotation more info
involved_in response to amphetamine	IEA Inferred from Electronic Annotation more info
involved_in response to anesthetic	IEA Inferred from Electronic Annotation more info
involved_in response to axon injury	IEA Inferred from Electronic Annotation more info
involved_in response to decreased oxygen levels	IEA Inferred from Electronic Annotation more info
involved_in response to morphine	IEA Inferred from Electronic Annotation more info
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in retina layer formation	IEA Inferred from Electronic Annotation more info
involved_in righting reflex	IEA Inferred from Electronic Annotation more info
involved_in superoxide metabolic process	IEA Inferred from Electronic Annotation more info
involved_in synapse organization	IEA Inferred from Electronic Annotation more info
involved_in transepithelial transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in transport across blood-brain barrier	ISS Inferred from Sequence or Structural Similarity more info
involved_in transport across blood-brain barrier	NAS Non-traceable Author Statement more info	PubMed
involved_in zinc ion transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Schaffer collateral - CA1 synapse	IEA Inferred from Electronic Annotation more info
located_in apical dendrite	ISS Inferred from Sequence or Structural Similarity more info
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in asymmetric synapse	ISS Inferred from Sequence or Structural Similarity more info
located_in axon	ISS Inferred from Sequence or Structural Similarity more info
located_in axon terminus	ISS Inferred from Sequence or Structural Similarity more info
located_in cell periphery	ISS Inferred from Sequence or Structural Similarity more info
located_in dendrite	ISS Inferred from Sequence or Structural Similarity more info
located_in dendritic shaft	ISS Inferred from Sequence or Structural Similarity more info
located_in dendritic spine	ISS Inferred from Sequence or Structural Similarity more info
located_in distal dendrite	ISS Inferred from Sequence or Structural Similarity more info
located_in early endosome membrane	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in external side of plasma membrane	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA more info	PubMed
located_in glial cell projection	ISS Inferred from Sequence or Structural Similarity more info
located_in late endosome membrane	IEA Inferred from Electronic Annotation more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in membrane raft	IEA Inferred from Electronic Annotation more info
located_in neuronal cell body	ISS Inferred from Sequence or Structural Similarity more info
located_in perikaryon	ISS Inferred from Sequence or Structural Similarity more info
located_in perisynaptic space	ISS Inferred from Sequence or Structural Similarity more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in presynapse	ISS Inferred from Sequence or Structural Similarity more info
located_in proximal dendrite	ISS Inferred from Sequence or Structural Similarity more info
located_in recycling endosome membrane	IEA Inferred from Electronic Annotation more info
located_in synaptic cleft	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: excitatory amino acid transporter 3

Names: excitatory amino acid carrier 1; neuronal and epithelial glutamate transporter; sodium-dependent glutamate/aspartate transporter 3; solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_017044.1 RefSeqGene

Range

5042..102043

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_004170.6 → NP_004161.4 excitatory amino acid transporter 3

See identical proteins and their annotated locations for NP_004161.4

Status: REVIEWED

Source sequence(s)

AB008536, BQ008494, BQ029108, DA643262, U03506

Consensus CDS

CCDS6452.1

UniProtKB/Swiss-Prot

O75587, P43005, Q5VZ24, Q8N199, Q9UEW2

UniProtKB/TrEMBL

B2R7K1

Related

ENSP00000262352.3, ENST00000262352.8

Conserved Domains (1) summary

pfam00375
Location:21 → 465

SDF; Sodium:dicarboxylate symporter family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

4490468..4587469

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011518007.2 → XP_011516309.1 excitatory amino acid transporter 3 isoform X1

UniProtKB/TrEMBL

B2R7K1

Conserved Domains (1) summary

pfam00375
Location:74 → 488

SDF; Sodium:dicarboxylate symporter family
XM_017015042.2 → XP_016870531.1 excitatory amino acid transporter 3 isoform X3

UniProtKB/TrEMBL

B2R7K1
XM_017015043.2 → XP_016870532.1 excitatory amino acid transporter 3 isoform X5

UniProtKB/TrEMBL

B2R7K1
XM_011518010.2 → XP_011516312.1 excitatory amino acid transporter 3 isoform X6

UniProtKB/TrEMBL

B2R7K1

Conserved Domains (1) summary

pfam00375
Location:40 → 418

SDF; Sodium:dicarboxylate symporter family
XM_011518008.4 → XP_011516310.1 excitatory amino acid transporter 3 isoform X2

UniProtKB/TrEMBL

B2R7K1

Conserved Domains (1) summary

pfam00375
Location:54 → 468

SDF; Sodium:dicarboxylate symporter family
XM_011518009.4 → XP_011516311.1 excitatory amino acid transporter 3 isoform X4

UniProtKB/TrEMBL

B2R7K1

Conserved Domains (1) summary

pfam00375
Location:31 → 445

SDF; Sodium:dicarboxylate symporter family