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

Gene ID: 6507, updated on 18-Aug-2020

Summary

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
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]
Expression
Biased expression in brain (RPKM 174.8) and fat (RPKM 10.9) See more
Orthologs

Genomic context

See SLC1A3 in Genome Data Viewer
Location:
5p13.2
Exon count:
12
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (36606606..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 Sharpr-MPRA regulatory region 9536 Neighboring gene uncharacterized LOC107986412

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ25094

Gene Ontology Provided by GOA

Function Evidence Code Pubs
L-glutamate transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
glutamate binding IEA
Inferred from Electronic Annotation
more info
 
glutamate:sodium symporter activity IDA
Inferred from Direct Assay
more info
PubMed 
glutamate:sodium symporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
high-affinity glutamate transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
high-affinity glutamate transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
D-aspartate import across plasma membrane IDA
Inferred from Direct Assay
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 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
 
transepithelial transport ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
basal plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
cell surface IEA
Inferred from Electronic Annotation
more info
 
cytoplasmic vesicle ISS
Inferred from Sequence or Structural Similarity
more info
 
integral component of plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
integral component of plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
membrane TAS
Traceable Author Statement
more info
PubMed 
membrane protein complex ISS
Inferred from Sequence or Structural Similarity
more info
 
neuron projection ISS
Inferred from Sequence or Structural Similarity
more info
 
neuronal cell body ISS
Inferred from Sequence or Structural Similarity
more info
 
perinuclear region of cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
synapse IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

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

  1. NG_015890.1 RefSeqGene

    Range
    5252..86980
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001166695.3NP_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_001166696.3NP_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
    Related
    ENST00000512374.1
  3. NM_001289939.2NP_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_001289940.2NP_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
    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_004172.5NP_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, ENST00000265113.9
    Conserved Domains (1) summary
    pfam00375
    Location:50497
    SDF; Sodium:dicarboxylate symporter family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    36606606..36688334
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005248342.3XP_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 X3

    Conserved Domains (1) summary
    pfam00375
    Location:5390
    SDF; Sodium:dicarboxylate symporter family
  3. XM_024446181.1XP_024301949.1  excitatory amino acid transporter 1 isoform X1

    Conserved Domains (1) summary
    pfam00375
    Location:50497
    SDF; Sodium:dicarboxylate symporter family
  4. XM_024446182.1XP_024301950.1  excitatory amino acid transporter 1 isoform X2

    Conserved Domains (1) summary
    pfam00375
    Location:50452
    SDF; Sodium:dicarboxylate symporter family
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