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

Gene ID: 6505, updated on 13-Jan-2015
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: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
DCBXA; EAAC1; EAAT3; SCZD18
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]
Orthologs
See SLC1A1 in MapViewer
Location:
9p24
Exon count:
12
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 9 NC_000009.12 (4490427..4587469)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (4490427..4587469)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene GLIS family zinc finger 3 Neighboring gene GLIS3 antisense RNA 1 Neighboring gene uncharacterized LOC101929330 Neighboring gene spermatogenesis associated 6-like Neighboring gene ribosomal protein S6 pseudogene 11 Neighboring gene phosphatidic acid phosphatase type 2 domain containing 2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Schizophrenia 18
MedGen: CN169674 OMIM: 615232 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genetics of coronary artery calcification among African Americans, a meta-analysis.
NHGRI GWA Catalog
Genome-wide association study identifies five loci associated with susceptibility to pancreatic cancer in Chinese populations.
NHGRI GWA Catalog
  • Glutamate Neurotransmitter Release Cycle, organism-specific biosystem (from REACTOME)
    Glutamate Neurotransmitter Release Cycle, organism-specific biosystemCommunication at the synapse involves the release of glutamate from the presynaptic neuron and its binding to glutamate receptors on the postsynaptic cell to generate a series of events that lead to ...
  • Glutamatergic synapse, organism-specific biosystem (from KEGG)
    Glutamatergic synapse, organism-specific biosystemGlutamate is the major excitatory neurotransmitter in the mammalian central nervous system(CNS). Glutamate is packaged into synaptic vesicles in the presynaptic terminal. Once released into the synap...
  • Glutamatergic synapse, conserved biosystem (from KEGG)
    Glutamatergic synapse, conserved biosystemGlutamate is the major excitatory neurotransmitter in the mammalian central nervous system(CNS). Glutamate is packaged into synaptic vesicles in the presynaptic terminal. Once released into the synap...
  • Neuronal System, organism-specific biosystem (from REACTOME)
    Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
  • Neurotransmitter Release Cycle, organism-specific biosystem (from REACTOME)
    Neurotransmitter Release Cycle, organism-specific biosystemNeurotransmitter is stored in the synaptic vesicle in the pre-synaptic terminal prior to its release in the synaptic cleft upon depolarization of the pre-synaptic membrane. The release of the neurotr...
  • Protein digestion and absorption, organism-specific biosystem (from KEGG)
    Protein digestion and absorption, organism-specific biosystemProtein is a dietary component essential for nutritional homeostasis in humans. Normally, ingested protein undergoes a complex series of degradative processes following the action of gastric, pancrea...
  • Protein digestion and absorption, conserved biosystem (from KEGG)
    Protein digestion and absorption, conserved biosystemProtein is a dietary component essential for nutritional homeostasis in humans. Normally, ingested protein undergoes a complex series of degradative processes following the action of gastric, pancrea...
  • SLC-mediated transmembrane transport, organism-specific biosystem (from REACTOME)
    SLC-mediated transmembrane transport, organism-specific biosystemProteins with transporting functions can be roughly classified into 3 categories: ATP-powered pumps, ion channels, and transporters. Pumps utilize the energy released by ATP hydrolysis to power the m...
  • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
    Transmembrane transport of small molecules, organism-specific biosystem
    Transmembrane transport of small molecules
  • Transmission across Chemical Synapses, organism-specific biosystem (from REACTOME)
    Transmission across Chemical Synapses, organism-specific biosystemChemical synapses are specialized junctions that are used for communication between neurons, neurons and muscle or gland cells. The synapse involves a pre-synaptic neuron and a post-synaptic neuron,...
  • Transport of inorganic cations/anions and amino acids/oligopeptides, organism-specific biosystem (from REACTOME)
    Transport of inorganic cations/anions and amino acids/oligopeptides, organism-specific biosystemTeleologically, one might argue that inorganic cation and anion transport would be evolutionarily among the oldest transport functions. Eight families comprise the group that transports exclusively i...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
L-glutamate transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
cysteine transmembrane transporter activity IDA
Inferred from Direct Assay
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
 
Process Evidence Code Pubs
D-aspartate import IDA
Inferred from Direct Assay
more info
PubMed 
L-glutamate import IDA
Inferred from Direct Assay
more info
PubMed 
L-glutamate transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
cysteine transport IDA
Inferred from Direct Assay
more info
PubMed 
ion transport TAS
Traceable Author Statement
more info
 
protein homooligomerization 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
apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
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

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

  1. NG_017044.1 

    Range
    5001..102043
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See proteins identical to NP_004161.4

    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 (1) summary
    pfam00375
    Location:21465
    SDF; Sodium:dicarboxylate symporter family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000009.12 

    Range
    4490427..4587469
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018920.2 

    Range
    4490396..4587442
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000141.1 

    Range
    4445524..4542606
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)