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SLC1A3 solute carrier family 1 member 3 [ Homo sapiens (human) ]

Gene ID: 6507, updated on 3-Sep-2017
Official Symbol
SLC1A3provided by HGNC
Official Full Name
solute carrier family 1 member 3provided by HGNC
Primary source
HGNC:HGNC:10941
See related
Ensembl:ENSG00000079215 MIM:600111; Vega:OTTHUMG00000090793
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
EA6; EAAT1; GLAST; GLAST1
Summary
This gene encodes a member of a member of a high affinity glutamate transporter family. This gene functions in the termination of excitatory neurotransmission in central nervous system. Mutations are associated with episodic ataxia, Type 6. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2014]
Orthologs
Location:
5p13.2
Exon count:
12
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 5 NC_000005.10 (36606355..36688334)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (36606457..36688436)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene RNA, 5S ribosomal pseudogene 181 Neighboring gene ribosomal protein L39 pseudogene 22 Neighboring gene uncharacterized LOC107986413 Neighboring gene uncharacterized LOC107986412 Neighboring gene NIPBL antisense RNA 1 (head to head)

  • Project title: 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 Jun 15 11:32:44 2016

Related articles in PubMed

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Astrocytic Glutamate-Glutamine Uptake And Metabolism, organism-specific biosystem (from REACTOME)
    Astrocytic Glutamate-Glutamine Uptake And Metabolism, organism-specific biosystemIn astrocytic glutamate-glutamine cycle, the excess glutamate released by the pre-synaptic neuron in the synaptic cleft is transported into the astrocyte by a family glutamate transporters called th...
  • 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...
  • Neurotransmitter uptake and Metabolism In Glial Cells, organism-specific biosystem (from REACTOME)
    Neurotransmitter uptake and Metabolism In Glial Cells, organism-specific biosystemNeuotransmitter uptake by astrocytes is mediated by specific transporter located on the astrocytic membrane. The imported neurotransmitter in the astrocytes is metabolized and transported back to the...
  • 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...
  • Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
    Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways, organism-specific biosystemIn this model, we provide an integrated view of Sudden Infant Death Syndrome (SIDS) at the level of implicated tissues, signaling networks and genetics. The purpose of this model is to serve as an ov...
  • Synaptic Vesicle Pathway, organism-specific biosystem (from WikiPathways)
    Synaptic Vesicle Pathway, organism-specific biosystemPathway depicting synaptic transmission of neurotransmitters from the presynaptic nerve terminal to the synaptic cleft upon depolarization. Synaptotagmin mediated transport along the nerve cell cytos...
  • 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

Clone Names

  • FLJ25094

Gene Ontology Provided by GOA

Process Evidence Code Pubs
D-aspartate import IDA
Inferred from Direct Assay
more info
PubMed 
D-aspartate import IMP
Inferred from Mutant Phenotype
more info
PubMed 
D-aspartate import across plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
L-aspartate import across plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
L-aspartate import across plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
L-glutamate import IDA
Inferred from Direct Assay
more info
PubMed 
L-glutamate import across plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
L-glutamate import across plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
L-glutamate transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
auditory behavior IEA
Inferred from Electronic Annotation
more info
 
cell morphogenesis involved in neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
chemical synaptic transmission TAS
Traceable Author Statement
more info
PubMed 
chloride transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
cranial nerve development IEA
Inferred from Electronic Annotation
more info
 
gamma-aminobutyric acid biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
glutamate biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
glutamate secretion TAS
Traceable Author Statement
more info
 
ion transport TAS
Traceable Author Statement
more info
 
neuromuscular process controlling balance IEA
Inferred from Electronic Annotation
more info
 
neurotransmitter uptake TAS
Traceable Author Statement
more info
PubMed 
positive regulation of synaptic transmission IEA
Inferred from Electronic Annotation
more info
 
potassium ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
response to antibiotic IEA
Inferred from Electronic Annotation
more info
 
response to drug IEA
Inferred from Electronic Annotation
more info
 
response to light stimulus IEA
Inferred from Electronic Annotation
more info
 
response to wounding IEA
Inferred from Electronic Annotation
more info
 
sensory perception of sound IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cell surface IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
membrane TAS
Traceable Author Statement
more info
PubMed 
neuron projection IEA
Inferred from Electronic Annotation
more info
 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
excitatory amino acid transporter 1
Names
GLAST-1
sodium-dependent glutamate/aspartate transporter 1
solute carrier family 1 (glial high affinity glutamate transporter), member 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_015890.1 RefSeqGene

    Range
    5001..86980
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001166695.2NP_001160167.1  excitatory amino acid transporter 1 isoform 2

    See identical proteins and their annotated locations for NP_001160167.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (GLAST1b, PMID:16042756) lacks an alternate in-frame exon in the 3' coding region, compared to variant GLAST. The encoded protein (isoform 2) is shorter, compared to isoform 1.
    Source sequence(s)
    AC008957, AF070609, AY954110, BC037310, DC320625
    Consensus CDS
    CCDS54844.1
    UniProtKB/Swiss-Prot
    P43003
    UniProtKB/TrEMBL
    Q8N169
    Related
    ENSP00000371343.3, ENST00000381918.3
    Conserved Domains (1) summary
    pfam00375
    Location:50452
    SDF; Sodium:dicarboxylate symporter family
  2. NM_001166696.2NP_001160168.1  excitatory amino acid transporter 1 isoform 3

    See identical proteins and their annotated locations for NP_001160168.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 3' UTR and has multiple coding differences compared to variant GLAST. The encoded protein (isoform 3) is shorter and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC010631, BC022285, DC320625
    UniProtKB/TrEMBL
    Q7Z5T0
  3. NM_001289939.1NP_001276868.1  excitatory amino acid transporter 1 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (GLAST1a) lacks an alternate in-frame exon in the 5' coding region, compared to variant GLAST. The encoded protein (isoform 4) is shorter, compared to isoform 1.
    Source sequence(s)
    AF070609, AK057823, AK293886, BC022285, BC037310, DC320625
    Consensus CDS
    CCDS78004.1
    UniProtKB/TrEMBL
    A0A087WT87, B4DF14, Q8N169
    Related
    ENSP00000477672.1, ENST00000613445.4
    Conserved Domains (1) summary
    pfam00375
    Location:45451
    SDF; Sodium:dicarboxylate symporter family
  4. NM_001289940.1NP_001276869.1  excitatory amino acid transporter 1 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (GLAST1c, PMID:22026960) lacks two alternate in-frame exons in the coding region, compared to variant GLAST. The encoded protein (isoform 5) is shorter, compared to isoform 1.
    Source sequence(s)
    AC008957, AF070609, AK312304, BC037310, DC320625
    Consensus CDS
    CCDS78003.1
    UniProtKB/Swiss-Prot
    P43003
    UniProtKB/TrEMBL
    A0A087X0U3, Q8N169
    Related
    ENSP00000483657.1, ENST00000612708.4
    Conserved Domains (1) summary
    pfam00375
    Location:50385
    SDF; Sodium:dicarboxylate symporter family
  5. NM_004172.4NP_004163.3  excitatory amino acid transporter 1 isoform 1

    See identical proteins and their annotated locations for NP_004163.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (GLAST) represents the longest transcript and encodes the longest protein (isoform 1).
    Source sequence(s)
    AF070609, AK057823, BC037310, D26443, DC320625
    Consensus CDS
    CCDS3919.1
    UniProtKB/Swiss-Prot
    P43003
    UniProtKB/TrEMBL
    A0A024R050, Q8N169
    Related
    ENSP00000265113.4, OTTHUMP00000116002, ENST00000265113.8, OTTHUMT00000207579
    Conserved Domains (1) summary
    pfam00375
    Location:50497
    SDF; Sodium:dicarboxylate symporter family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p7 Primary Assembly

    Range
    36606355..36688334
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005248342.2XP_005248399.1  excitatory amino acid transporter 1 isoform X1

    See identical proteins and their annotated locations for XP_005248399.1

    UniProtKB/Swiss-Prot
    P43003
    UniProtKB/TrEMBL
    A0A024R050
    Conserved Domains (1) summary
    pfam00375
    Location:50497
    SDF; Sodium:dicarboxylate symporter family
  2. XM_011514084.2XP_011512386.1  excitatory amino acid transporter 1 isoform X2

    Conserved Domains (1) summary
    pfam00375
    Location:5390
    SDF; Sodium:dicarboxylate symporter family

Alternate CHM1_1.1

Genomic

  1. NC_018916.2 Alternate CHM1_1.1

    Range
    36609230..36691155
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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