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SLC1A3 Gene

protein-coding   GIFtS: 72
GCID: GC05P036606

Solute Carrier Family 1 (Glial High Affinity Glutamate Transporter),...

  See SLC1A3-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Solute Carrier Family 1 (Glial High Affinity Glutamate Transporter),
Member 31 2
     GLAST-12 3
EAAT12 3 5     GLAST12 3
Sodium-Dependent Glutamate/Aspartate Transporter 12 3     EA62 5
Solute Carrier Family 1 Member 32 3     Glutamate Transporter Variant EAAT1ex9skip1
GLAST2 3     Excitatory Amino Acid Transporter 12

External Ids:    HGNC: 109411   Entrez Gene: 65072   Ensembl: ENSG000000792157   OMIM: 6001115   UniProtKB: P430033   

Export aliases for SLC1A3 gene to outside databases

Previous GC identifers: GC05P036787 GC05P037672 GC05P036652 GC05P036642 GC05P036559


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SLC1A3 Gene:
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)

GeneCards Summary for SLC1A3 Gene:
SLC1A3 (solute carrier family 1 (glial high affinity glutamate transporter), member 3) is a protein-coding gene. Diseases associated with SLC1A3 include brain injury, and traumatic brain injury. GO annotations related to this gene include sodium:dicarboxylate symporter activity and L-glutamate transmembrane transporter activity. An important paralog of this gene is SLC1A5.

UniProtKB/Swiss-Prot: EAA1_HUMAN, P43003
Function: Transports L-glutamate and also L- and D-aspartate. Essential for terminating the postsynaptic action of
glutamate by rapidly removing released glutamate from the synaptic cleft. Acts as a symport by cotransporting
sodium

summary for SLC1A3 Gene:
Glutamate transporters, also known as excitatory amino acid transporters (EAATs), are sodium- and
potassium-dependent members of the solute carrier family 6 (SLC1) found widely distributed throughout the
brain. There are five EAAT subtypes, each with a specific primary distribution; EAAT1 (cerebellar glia),
EAAT2 (forebrain glia), EAAT3 (cortical neurons), EAAT4 (cerebellar Purkinje neurons) and EAAT5 (retina).
Functions of glutamate transporters include regulation of excitatory neurotransmission, maintenance of low
ambient extracellular glutamate concentrations (protects against neurotoxicity) and providing glutamate for
metabolism through the glutamate-glutamine cycle. Overactivity of glutamate transporters has been implicated
in the pathophysiology of schizophrenia and other mental illnesses, whilst underactivity is seen in ischemia
and traumatic brain injury.

Gene Wiki entry for SLC1A3 (Glutamate aspartate transporter) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000005.9  NT_006576.17  NC_018916.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC1A3 gene promoter:
         USF1   AP-1   ATF-2   Evi-1   SRY   USF-1   c-Jun   ZIC2/Zic2   Ik-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC1A3 promoter sequence
   Search Chromatin IP Primers for SLC1A3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC1A3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5p13   Ensembl cytogenetic band:  5p13.2   HGNC cytogenetic band: 5p13

SLC1A3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC1A3 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P036606:  view genomic region     (about GC identifiers)

Start:
36,606,457 bp from pter      End:
36,688,436 bp from pter
Size:
81,980 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: EAA1_HUMAN, P43003 (See protein sequence)
Recommended Name: Excitatory amino acid transporter 1  
Size: 542 amino acids; 59572 Da
Secondary accessions: B2R5T3 Q4JCQ8
Alternative splicing: 2 isoforms:  P43003-1   P43003-2   (Expressed throughout the CNS, both in gray matter and axonal tracts, at levels ranging between 10% and 20% of isoform 1. Localizes to ER, has no functional glutamate uptake activity, and exerts a dominant negative effect isoform 1)

Explore the universe of human proteins at neXtProt for SLC1A3: NX_P43003

Explore proteomics data for SLC1A3 at MOPED

Post-translational modifications: 

  • Glycosylated1
  • Ubiquitination2 at Lys384
  • Modification sites at PhosphoSitePlus

  • See SLC1A3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001160167.1  NP_001160168.1  NP_001276868.1  NP_001276869.1  NP_004163.3  

    ENSEMBL proteins: 
     ENSP00000265113   ENSP00000427203   ENSP00000414078   ENSP00000424986   ENSP00000420992  
     ENSP00000371343  
    Reactome Protein details: P43003

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    antibodies-online proteins for SLC1A3 (6 products) 

     
    antibodies-online peptides for SLC1A3

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SLC: Solute carriers

    IUPHAR Guide to PHARMACOLOGY protein family classification: Excitatory amino acid transporter 1
    Glutamate transporter subfamily

    2 InterPro protein domains:
     IPR001991 Na-dicarboxylate_symporter
     IPR018107 Na-dicarboxylate_symporter_CS

    Graphical View of Domain Structure for InterPro Entry P43003

    ProtoNet protein and cluster: P43003

    1 Blocks protein domain: IPB001991 Sodium:dicarboxylate symporter

    UniProtKB/Swiss-Prot: EAA1_HUMAN, P43003
    Similarity: Belongs to the sodium:dicarboxylate (SDF) symporter (TC 2.A.23) family. SLC1A3 subfamily


    Find genes that share domains with SLC1A3           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: EAA1_HUMAN, P43003
    Function: Transports L-glutamate and also L- and D-aspartate. Essential for terminating the postsynaptic action of
    glutamate by rapidly removing released glutamate from the synaptic cleft. Acts as a symport by cotransporting
    sodium

         Genatlas biochemistry entry for SLC1A3:
    solute carrier family 1,member A3,glial high affinity glutamate/aspartate transporter in the cerebellum,located in
    astrocytes,involved in development and neonatal hypoxic-ischemic damage

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005313L-glutamate transmembrane transporter activity IDA7521911
    GO:0005314high-affinity glutamate transmembrane transporter activity IEA--
    GO:0005515protein binding ----
    GO:0016595glutamate binding IEA--
    GO:0016597amino acid binding ----
         
    Find genes that share ontologies with SLC1A3           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for SLC1A3:
     Decreased influenza A virus in  Increased gamma-H2AX phosphory  Low eccentricity cells 

         7 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Slc1a3):
     behavior/neurological  cellular  hearing/vestibular/ear  homeostasis/metabolism  nervous system 
     no phenotypic analysis  vision/eye 

    Find genes that share phenotypes with SLC1A3           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for SLC1A3: Slc1a3tm1Kta Slc1a3tm1Wst

       genOway: Develop your customized and physiologically relevant rodent model for SLC1A3

    miRNA
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    miRTarBase miRNAs that target SLC1A3:
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    Selected qRT-PCR Assays for microRNAs that regulate SLC1A3 (see all 49):
    hsa-miR-548j hsa-miR-3678-3p hsa-miR-361-5p hsa-miR-607 hsa-miR-548a-5p hsa-miR-548d-5p hsa-miR-23a hsa-miR-223*
    SwitchGear 3'UTR luciferase reporter plasmidSLC1A3 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    EAA1_HUMAN, P43003: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    extracellular3
    mitochondrion3
    nucleus3
    cytoskeleton2

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0009986cell surface IEA--
    GO:0016020membrane TAS7521911
    GO:0016021integral component of membrane IEA--
    GO:0042995cell projection IEA--

    Find genes that share ontologies with SLC1A3           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SLC1A3 About   (see all 9)  
    See pathways by source

    SuperPathContained pathways About
    1Glutamic acid signaling
    Glutamic acid signaling
    Synaptic Neurotransmission: Glutamatergic Excitation0.00
    2Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    SLC-mediated transmembrane transport0.47
    Transport of inorganic cations/anions and amino acids/oligopeptides0.38
    Transmembrane transport of small molecules0.47
    3Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.68
    4Neurotransmitter uptake and Metabolism In Glial Cells
    Neurotransmitter uptake and Metabolism In Glial Cells
    Astrocytic Glutamate-Glutamine Uptake And Metabolism0.00
    5Synaptic vesicle cycle
    Synaptic Vesicle Pathway0.50


    Find genes that share SuperPaths with SLC1A3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for SLC1A3
        Synaptic Neurotransmission: Glutamatergic Excitation

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for SLC1A3
        Pathogenesis of ALS

    1 Cell Signaling Technology (CST) Pathway for SLC1A3
        Neuroscience

    2 BioSystems Pathways for SLC1A3
        SIDS Susceptibility Pathways
    Synaptic Vesicle Pathway


    2 Reactome Pathways for SLC1A3
        Astrocytic Glutamate-Glutamine Uptake And Metabolism
    Transport of inorganic cations/anions and amino acids/oligopeptides


    1 Kegg Pathway  (Kegg details for SLC1A3):
        Glutamatergic synapse

        Pathway & Disease-focused RT2 Profiler PCR Array including SLC1A3: 
              GABA & Glutamate in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SLC1A3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    Selected Interacting proteins for SLC1A3 (P430032, 3 ENSP000002651134) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TNFRSF1BP203332, 3MINT-49397 I2D: score=2 
    SGK1O001413, ENSP000003568324I2D: score=1 STRING: ENSP00000356832
    BECN1Q144573I2D: score=1 
    DLG4P783523I2D: score=1 
    SLC2A1ENSP000004162934STRING: ENSP00000416293
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 21):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001504neurotransmitter uptake TAS8647279
    GO:0006536glutamate metabolic process ----
    GO:0006537glutamate biosynthetic process IEA--
    GO:0006811ion transport TAS--
    GO:0006835dicarboxylic acid transport ----

    Find genes that share ontologies with SLC1A3           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Compounds for SLC1A3 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    TFB-TBOAHigh affinity EAAT1 and EAAT2 blocker[480439-73-4]
    DL-TBOASelective non-transportable inhibitor of EAATs[205309-81-5]
    L-trans-2,4-PDC Transportable EAAT1-4 inhibitor/non-transportable EAAT5 inhibitor[64769-66-0]
    WAY 213613 Potent, non-substrate EAAT2 inhibitor [868359-05-1]
    Dihydrokainic acidEAAT2 (GLT-1)-selective non-transportable inhibitor of L-glutamate and L-aspartate uptake[52497-36-6]

    1 HMDB Compound for SLC1A3    About this table
    CompoundSynonyms CAS #PubMed Ids
    SodiumSodium (see all 2)7440-23-5--

    1 DrugBank Compound for SLC1A3    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Glutamic Acid(2S)-2-Aminopentanedioic acid (see all 15)56-86-0target--16959378 16855093 17088867

    6 IUPHAR Ligands for SLC1A3 (Excitatory amino acid transporter 1)    About this table
    LigandTypeActionAffinityPubmed IDs
    [3H]ETB-TBOA
    NoneNone7.8--
    UCPH-101
    InhibitorInhibition6.919161278
    DL-TBOA
    InhibitorInhibition59463476
    [3H]L-aspartic acid
    NoneNone5--
    [3H]D-aspartic acid
    NoneNone5--
    [3H](2S,4R)-4-methylglutamate
    NoneNone5--

    Selected Novoseek inferred chemical compound relationships for SLC1A3 gene (see all 28)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glutamate 87.9 456 12957496 (5), 15605988 (5), 19139306 (5), 19428803 (5) (see all 99)
    dihydrokainate 83.5 1 19657037 (1)
    dl-threo-beta-benzyloxyaspartate 81.5 5 11677257 (1), 9463476 (1)
    l-trans-pyrrolidine-2,4-dicarboxylic acid 79.5 3 7476890 (1), 9636115 (1), 9430708 (1)
    aspartate 69 33 12387356 (2), 15242733 (2), 15615843 (2), 9048771 (1) (see all 25)
    threo-beta-hydroxyaspartate 64.7 4 11677257 (1)
    glutamine 57.6 25 19668465 (3), 12969764 (1), 16516348 (1), 19728998 (1) (see all 11)
    nmda 37.2 1 9495799 (1)
    kainate 32.7 9 7629063 (2), 9051792 (1), 9614067 (1)
    chloride 26.3 3 9658205 (1), 9614067 (1)



    Find genes that share compounds with SLC1A3           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SLC1A3 gene (5 alternative transcripts): 
    NM_001166695.2  NM_001166696.2  NM_001289939.1  NM_001289940.1  NM_004172.4  

    Unigene Cluster for SLC1A3:

    Solute carrier family 1 (glial high affinity glutamate transporter), member 3
    Hs.481918  [show with all ESTs]
    Unigene Representative Sequence: NM_004172
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000265113(uc003jkj.4 uc011cox.2 uc010iuy.3) ENST00000513903
    ENST00000504121 ENST00000512374(uc021xxn.1) ENST00000416645 ENST00000506725
    ENST00000505202 ENST00000513646 ENST00000502864 ENST00000514563 ENST00000509272
    ENST00000505376 ENST00000506178 ENST00000381918
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    Additional mRNA sequence: 

    AF070609.1 AK057823.1 AK293886.1 AK295032.1 AK295754.1 AK312304.1 AY954110.1 BC022285.1 
    BC037310.2 BC054475.1 D26443.1 L19158.1 U03504.1 

    19 DOTS entries:

    DT.447857  DT.97776967  DT.120819690  DT.40132668  DT.86859681  DT.120819680  DT.95161901  DT.120819686 
    DT.120819691  DT.120819771  DT.40115783  DT.40278295  DT.92003873  DT.95161894  DT.95161895  DT.301063 
    DT.40229653  DT.418125  DT.99997238 

    Selected AceView cDNA sequences (see all 230):

    AI273599 BM664590 BP349462 BU622226 BP349098 BX488230 AW664556 AI383604 
    BE467061 F04399 CR601776 AA453742 AU132968 BP348410 BP350121 BM699073 
    AV725204 BP361519 BM696049 AI583720 AW196228 BF593638 T08444 BM976790 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SLC1A3 (see all 8)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b · 14c
    SP1:              -     -     -                 -                 -                                               -                                 
    SP2:                                            -                 -                                               -           -                     
    SP3:              -                             -                                                                                                   
    SP4:                    -     -                 -                 -                                                                                 
    SP5:                                            -                 -                                                                                 


    ECgene alternative splicing isoforms for SLC1A3

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SLC1A3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CACTCAGTGT
    SLC1A3 Expression
    About this image


    SLC1A3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 14) fully expand
     
     Brain (Nervous System)    fully expand to see all 19 entries
             Adult Endothelial Cells Blood Brain Barrier
             Thalamus
             Caudal astrospheres
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Mesencephalic Floor Plate
             Otx2+Corin+ cells
     
     Eye (Sensory Organs)    fully expand to see all 4 entries
             Adult Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
     
     Epithelial Cells
             Adult Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
    SLC1A3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC1A3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.481918

    UniProtKB/Swiss-Prot: EAA1_HUMAN, P43003
    Tissue specificity: Highly expressed in cerebellum, but also found in frontal cortex, hippocampus and basal
    ganglia

        Pathway & Disease-focused RT2 Profiler PCR Array including SLC1A3: 
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for SLC1A3 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc1a31 , 5 solute carrier family 1 (glial high affinity glutamate more1, 5 89.18(n)1
    96.68(a)1
      15 (3.82 cM)5
    205121  NM_148938.31  NP_683740.11 
     86341245 
    chicken
    (Gallus gallus)
    Aves SLC1A31 solute carrier family 1 (glial high affinity glutamate more 79.52(n)
    89.11(a)
      395443  XM_425011.3  XP_425011.2 
    lizard
    (Anolis carolinensis)
    Reptilia SLC1A36
    solute carrier family 1 (glial high affinity gluta...
    86(a)
    1 ↔ 1
    GL343241.1(1296315-1364237)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC687892 Excitatory amino acid transporter 1 76.71(n)    BC060347.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.282892 Danio rerio mRNA similar to solute carrier family 1, more 74.62(n)    BC063233.1 
    worm
    (Caenorhabditis elegans)
    Secernentea glt-23
    glt-51
    excitatory amino acid transporter3
    glt-51
    53(a)
    (best of 6)3
    56.33(n)1
    52.53(a)1
      X(3531387-3534184)3
    1745301  NM_063693.41  NP_496094.11 


    ENSEMBL Gene Tree for SLC1A3 (if available)
    TreeFam Gene Tree for SLC1A3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SLC1A3 gene
    SLC1A52  SLC1A72  SLC1A12  SLC1A22  SLC1A42  SLC1A62  
    6 SIMAP similar genes for SLC1A3 using alignment to 5 protein entries:     EAA1_HUMAN (see all proteins):
    SLC1A7    SLC1A6    SLC1A2    SLC1A1    SLC1A4    SLC1A5

    Find genes that share paralogs with SLC1A3           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SLC1A3 (see all 1701)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0317334
    Episodic ataxia 6 (EA6)4--see VAR_0317332 P R mis40--------
    rs1811685961,2
    --36548667(+) CTTAAC/TTATAA 2 -- us2k10--------
    rs169031881,2
    C,F,H--36548696(+) GAAATA/GCGCGT 2 -- us2k19Minor allele frequency- G:0.04NA NS EA WA 680
    rs1399855391,2
    --36548697(+) AAATAC/TGCGTT 2 -- us2k10--------
    rs1857566951,2
    C--36548699(+) ATACGC/TGTTGA 2 -- us2k10--------
    rs1896841591,2
    --36548710(+) GGAAAC/TCCAGG 2 -- us2k10--------
    rs789477241,2
    C,F--36548730(+) GGCATG/CACTTT 2 -- us2k11Minor allele frequency- C:0.03EA 120
    rs1453236171,2
    --36548798(+) CCTCCA/GGACTA 2 -- us2k10--------
    rs1472574451,2
    --36548986(+) AGAGGA/GAAAAA 2 -- us2k10--------
    rs38140671,2
    C,F,A--36548997(+) AAAGTG/AAAAAA 2 -- us2k1 trp36Minor allele frequency- A:0.38WA NA CSA EA 364

    HapMap Linkage Disequilibrium report for SLC1A3 (36606457 - 36688436 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for SLC1A3:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv880571CNV Loss21882294
    nsv526573CNV Loss19592680
    nsv830263CNV Gain17160897
    nsv881025CNV Gain21882294

    Human Gene Mutation Database (HGMD): SLC1A3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC1A3
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC1A3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 600111   
    OMIM disorders: 612656  
    UniProtKB/Swiss-Prot: EAA1_HUMAN, P43003
  • Episodic ataxia 6 (EA6) [MIM:612656]: A disorder characterized by episodic ataxia, seizures, migraine and
    alternating hemiplegia. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 14 diseases for SLC1A3:    
    About MalaCards
    brain injury    traumatic brain injury    episodic ataxia type 6    episodic ataxia
    band keratopathy    alternating hemiplegia of childhood    hemiplegia    endolymphatic sac tumor
    hemimegalencephaly    ischemia    neuronal ceroid-lipofuscinoses    west syndrome
    schizophrenia    amyotrophic lateral sclerosis

    3 diseases from the University of Copenhagen DISEASES database for SLC1A3:
    Episodic ataxia     Toxic encephalopathy     Amyotrophic lateral sclerosis

    Find genes that share disorders with SLC1A3           About GenesLikeMe

    Selected Novoseek inferred disease relationships for SLC1A3 gene (see all 22)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    amyotrophic lateral sclerosis 61.8 4 10963360 (2), 10321246 (1), 8797537 (1)
    neurodegeneration 54.9 1 20153402 (1)
    gliosis 46.8 3 12453601 (1)
    epilepsy temporal lobe 35.2 1 10336123 (1)
    brain diseases 31.7 2 9972824 (1), 11461977 (1)
    astrocytosis 30.7 1 15535133 (1)
    motor neuron disease 27.8 1 10963360 (1)
    alzheimers disease 25.6 8 9972824 (2), 11826152 (2), 15718040 (1), 11461977 (1) (see all 6)
    encephalopathies hypoxic-ischemic 22.9 1 9630235 (1)
    glioma 18.7 4 10594060 (1), 16368696 (1), 10548520 (1), 12470708 (1)

    Genetic Association Database (GAD): SLC1A3
    Human Genome Epidemiology (HuGE) Navigator: SLC1A3 (11 documents)

    Export disorders for SLC1A3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SLC1A3 gene, integrated from 10 sources (see all 284):
    (articles sorted by number of sources associating them with SLC1A3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Functional comparisons of three glutamate transporter subtypes cloned from human motor cortex. (PubMed id 7521911)1, 2, 3, 9 Arriza J.L.... Amara S.G. (J. Neurosci. 1994)
    2. A novel alternative splicing form of excitatory amino acid transporter 1 is a negative regulator of glutamate uptake. (PubMed id 16042756)1, 2, 9 Vallejo-Illarramendi A.... Matute C. (J. Neurochem. 2005)
    3. Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures. (PubMed id 16116111)1, 2, 9 Jen J.C.... Baloh R.W. (Neurology 2005)
    4. Association study of polymorphisms in the glutamate transporter genes SLC1A1, SLC1A3, and SLC1A6 with schizophrenia. (PubMed id 17221839)1, 4, 9 Deng X....Fukumaki Y. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2007)
    5. Human high affinity, Na(+)-dependent L-glutamate/L-aspartate transporter GLAST-1 (EAAT-1): gene structure and localization to chromosome 5p11-p12. (PubMed id 8647279)1, 2, 9 Stoffel W....Lichter P. (FEBS Lett. 1996)
    6. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    7. Pharmacogenetics of antipsychotic response in the CATIE trial: a candidate gene analysis. (PubMed id 19156168)1, 4 Need A.C....Goldstein D.B. (Eur. J. Hum. Genet. 2009)
    8. Chromosome 5 and Gilles de la Tourette syndrome: Linkage in a large pedigree and association study of six candidates in the region. (PubMed id 18454440)1, 4 Laurin N....Barr C.L. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009)
    9. Candidate gene analysis in an on-going genome-wide association study of attention-deficit hyperactivity disorder: suggestive association signals in ADRA1A. (PubMed id 19352218)1, 4 Elia J....Hakonarson H. (Psychiatr. Genet. 2009)
    10. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PubMed id 19086053)1, 4 GratacA^s M....Carracedo A. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 6507 HGNC: 10941 AceView: SLC1A3 Ensembl:ENSG00000079215 euGenes: HUgn6507
    ECgene: SLC1A3 Kegg: 6507 H-InvDB: SLC1A3

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SLC1A3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SLC1A3 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SLC1A3[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SLC1A3 gene:
    Search GeneIP for patents involving SLC1A3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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