SLC1A1 solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 [Homo sapiens] - Gene

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Summary

Official Symbol: SLC1A1provided by HGNC
Official Full Name: solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1provided by HGNC
Primary source: HGNC:10939
Locus tag: RP11-6J24.1
See related: Ensembl:ENSG00000106688; HPRD:00597; MIM:133550; Vega:OTTHUMG00000019468
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: EAAC1; EAAT3
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]

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Genomic context

Location :: 9p24

Sequence :: Chromosome: 9; NC_000009.11 (4490427..4587469)

See SLC1A1 in Epigenomics, MapViewer

Chromosome 9 - NC_000009.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

These findings suggest the involvement of SLC1A1 in the pathogenesis of schizophrenia.
Title: Association of SNPs linked to increased expression of SLC1A1 with schizophrenia.
This study provides suggestive evidence that DLGAP3 and its interactive effect with SLC1A1 might be involved in susceptibility to developing OC symptoms in schizophrenia patients receiving AAP treatment.
Title: Interaction between genetic variants of DLGAP3 and SLC1A1 affecting the risk of atypical antipsychotics-induced obsessive-compulsive symptoms.
genotyped an additional 111 SNPs in or near SLC1A1, covering from 9 kb upstream to 84 kb downstream of the gene at average spacing of 1.7 kb per SNP, and conducted family-based association analyses in 1,576 participants in 377 families
Title: Comprehensive family-based association study of the glutamate transporter gene SLC1A1 in obsessive-compulsive disorder.
SLC1A1 mutations leading to substitution of arginine to tryptophan at position 445 (R445W) and deletion of isoleucine at position 395 (I395del) cause dicarboxylic aminoaciduria, an autosomal recessive disorder of urinary glutamate and aspartate transport
Title: Loss-of-function mutations in the glutamate transporter SLC1A1 cause human dicarboxylic aminoaciduria.
SLC1A1 alleles may have a role in obsessive-compulsive disorder
Title: A screen of SLC1A1 for OCD-related alleles.
Cysteine uptake by EAAC1 is important for zinc homeostasis and neuronal antioxidant function following transient cerebral ischemia.
Title: EAAC1 gene deletion alters zinc homeostasis and exacerbates neuronal injury after transient cerebral ischemia.
association of SNP rs301430 with severity of repetitive behaviors and anxiety in autism spectrum disorder
Title: Glutamate transporter gene (SLC1A1) single nucleotide polymorphism (rs301430) and repetitive behaviors and anxiety in children with autism spectrum disorder.
suggests that T370S also alters the cation selectivity of this cation-binding site, as expected if T370 forms part of a cation-binding site in EAAT3.
Title: Evidence for a third sodium-binding site in glutamate transporters suggests an ion/substrate coupling model.
the side chain of EAAC1 Met-367 fulfills a steric role in the positioning of the substrate in the binding pocket in a step subsequent to its initial binding
Title: A conserved methionine residue controls the substrate selectivity of a neuronal glutamate transporter.
analysis of cation binding to the glutamate transporter EAAC1 probed with mutation of the conserved amino acid residue Thr10
Title: Mechanism of cation binding to the glutamate transporter EAAC1 probed with mutation of the conserved amino acid residue Thr101.

Submit: New GeneRIF Correction See all (39)

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Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
P43005	O75915	ARL6IP5	HPRD	PubMed
P43005	Q01844	EWSR1	HPRD	PubMed
P43005	P17252	PRKCA	HPRD	PubMed
BioGRID:112396	BioGRID:115801	ARL6IP5	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:112396	BioGRID:108431	EWSR1	BioGRID	PubMed	Two-hybrid
BioGRID:112396	BioGRID:111564	PRKCA	BioGRID	PubMed	Affinity Capture-Western

Function	Evidence Code	Pubs
L-glutamate transmembrane transporter activity	TAS Traceable Author Statement more info	PubMed
glutamate binding	IEA Inferred from Electronic Annotation more info
glutamate:sodium symporter activity	IEA Inferred from Electronic Annotation more info
sodium:dicarboxylate symporter activity	IEA Inferred from Electronic Annotation more info
symporter activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
D-aspartate import	IDA Inferred from Direct Assay more info	PubMed
L-amino acid transport	IEA Inferred from Electronic Annotation more info
L-glutamate import	IDA Inferred from Direct Assay more info	PubMed
L-glutamate transport	TAS Traceable Author Statement more info	PubMed
amino acid transmembrane transport	IEA Inferred from Electronic Annotation more info
dicarboxylic acid transport	IEA Inferred from Electronic Annotation more info
ion transport	TAS Traceable Author Statement more info
protein homooligomerization	IEA Inferred from Electronic Annotation more info
sodium ion export	IEA Inferred from Electronic Annotation more info
synaptic transmission	TAS Traceable Author Statement more info	PubMed
transmembrane transport	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
integral to plasma membrane	TAS Traceable Author Statement more info	PubMed
membrane fraction	TAS Traceable Author Statement more info	PubMed
plasma membrane	TAS Traceable Author Statement more info

General protein information

Preferred Names: excitatory amino acid transporter 3

Names: excitatory amino acid transporter 3; excitatory amino acid carrier 1; solute carrier family 1 member 1; neuronal and epithelial glutamate transporter; sodium-dependent glutamate/aspartate transporter 3

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NCBI Reference Sequences (RefSeq)

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

5001..102043

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_004170.5 → NP_004161.4 excitatory amino acid transporter 3

Status: REVIEWED

Source sequence(s)

AB008536, BQ008494, BQ029108, DA643262, U03506

Consensus CDS

CCDS6452.1

UniProtKB/Swiss-Prot

P43005

Related

ENSP00000262352, OTTHUMP00000021006, ENST00000262352, OTTHUMT00000051571

Conserved Domains (2) summary

COG1301
Location:19 – 472
Blast Score: 521

GltP; Na+/H+-dicarboxylate symporters [Energy production and conversion]

cl00573
Location:21 – 465
Blast Score: 746

SDF; Sodium:dicarboxylate symporter family

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000009.11 Reference GRCh37.p5 Primary Assembly

Range

4490427..4587469

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000141.1 Alternate HuRef

Range

4445524..4542606

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AF074911.1	AAC27511.3
genomic	AL136231.12	CAI41261.1
		CAI41264.1
genomic	AL162587.20	CAH71965.1
genomic	CH471071.2	EAW58786.1
mRNA	AB008536.1	BAB83767.1
mRNA	AF037982.1	AAC25029.1
mRNA	AK313013.1	BAG35848.1
mRNA	BC033040.1	AAH33040.1
mRNA	BQ008494.1	None
mRNA	BQ029108.1	None
mRNA	CB984615.1	None
mRNA	CK903716.1	None
mRNA	DA643262.1	None
mRNA	U03506.1	AAA50430.1
mRNA	U06469.1	AAA53215.1
mRNA	U08989.1	AAA68628.1
other-genetic	DQ892425.2	ABM83351.1
other-genetic	DQ895639.2	ABM86565.1