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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SLC1A1 Gene

protein-coding   GIFtS: 64
GCID: GC09P004480

Solute Carrier Family 1 (Neuronal/Epithelial High Affinity...

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Solute Carrier Family 1 (Neuronal/Epithelial High Affinity Glutamate
Transporter, System Xag), Member 11 2
     EAAT32 3
EAAC12 3 5     SCZD182
Neuronal And Epithelial Glutamate Transporter2 3     Excitatory Amino Acid Carrier 12
Sodium-Dependent Glutamate/Aspartate Transporter 32 3     Excitatory Amino Acid Transporter 32
Solute Carrier Family 1 Member 12 3     Excitatory Amino-Acid Carrier 13

External Ids:    HGNC: 109391   Entrez Gene: 65052   Ensembl: ENSG000001066887   OMIM: 1335505   UniProtKB: P430053   

Export aliases for SLC1A1 gene to outside databases

Previous GC identifers: GC09P004644 GC09P004471


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SLC1A1 Gene:
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)

GeneCards Summary for SLC1A1 Gene: 
SLC1A1 (solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1) is a protein-coding gene. Diseases associated with SLC1A1 include dicarboxylic aminoaciduria, and ischemia, and among its related super-pathways are Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell and Amino acid transport across the plasma membrane. GO annotations related to this gene include sodium:dicarboxylate symporter activity and L-glutamate transmembrane transporter activity. An important paralog of this gene is SLC1A3.

UniProtKB/Swiss-Prot: EAA3_HUMAN, P43005
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. Negatively regulated by ARL6IP5 (By similarity)

summary for SLC1A1 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 SLC1A1 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.2  NT_008413.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SLC1A1 gene promoter:
         Nkx2-2   Bach2   Nkx2-5   NF-E2 p45   NF-kappaB   RORalpha2   N-Myc   MEF-2A   aMEF-2   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC1A1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC1A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC1A1


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

Entrez Gene cytogenetic band: 9p24   Ensembl cytogenetic band:  9p24.2   HGNC cytogenetic band: 9p24

SLC1A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC1A1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P004480:  view genomic region     (about GC identifiers)

Start:
4,490,427 bp from pter      End:
4,587,469 bp from pter
Size:
97,043 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: EAA3_HUMAN, P43005 (See protein sequence)
Recommended Name: Excitatory amino acid transporter 3  
Size: 524 amino acids; 57100 Da
Subunit: Interacts with ARL6IP5/PRAF3 (By similarity)
Subcellular location: Membrane; Multi-pass membrane protein
Secondary accessions: O75587 Q5VZ24 Q8N199 Q9UEW2

Explore the universe of human proteins at neXtProt for SLC1A1: NX_P43005

Explore proteomics data for SLC1A1 at MOPED 

Post-translational modifications:

  • UniProtKB: Glycosylated
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P43005

  • SLC1A1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SLC1A1 Protein Expression
    REFSEQ proteins: NP_004161.4  
    ENSEMBL proteins: 
     ENSP00000262352   ENSP00000414620  
    Reactome Protein details: P43005
    Human Recombinant Protein Products for SLC1A1: 
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    OriGene Protein Over-expression Lysate for SLC1A1
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    Novus Biologicals SLC1A1 Protein
    Novus Biologicals SLC1A1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane TAS7521911
    GO:0016020membrane TAS7521911

    SLC1A1 for ontologies           About GeneDecksing



    SLC1A1 Antibody Products: 
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    Assay Products for SLC1A1: 
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    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


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

    IUPHAR Guide to PHARMACOLOGY protein family classification: Excitatory amino acid transporter 3 
    Glutamate transporter subfamily

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

    Graphical View of Domain Structure for InterPro Entry P43005

    ProtoNet protein and cluster: P43005

    1 Blocks protein domain: IPB001991 Sodium:dicarboxylate symporter

    UniProtKB/Swiss-Prot: EAA3_HUMAN, P43005
    Similarity: Belongs to the sodium:dicarboxylate (SDF) symporter (TC 2.A.23) family. SLC1A1 subfamily


    SLC1A1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: EAA3_HUMAN, P43005
    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. Negatively regulated by ARL6IP5 (By similarity)

         Genatlas biochemistry entry for SLC1A1:
    solute carrier family 1,member A1,glial high affinity glutamate transporter,expressed in neurons

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005313L-glutamate transmembrane transporter activity TAS7521911
    GO:0005515protein binding ----
    GO:0015501glutamate:sodium symporter activity IEA--
    GO:0016595glutamate binding IEA--
    GO:0017153sodium:dicarboxylate symporter activity IEA--
         
    SLC1A1 for ontologies           About GeneDecksing


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Slc1a1):
     behavior/neurological  cellular  homeostasis/metabolism  nervous system  renal/urinary system 
     vision/eye 

    SLC1A1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Slc1a1tm1Wst for SLC1A1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SLC1A1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SLC1A1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SLC1A1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SLC1A1 

    miRNA
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    8/19 QIAGEN miScript miRNA Assays for microRNAs that regulate SLC1A1 (see all 19):
    hsa-miR-539 hsa-miR-509-5p hsa-miR-200a hsa-miR-1271 hsa-miR-1297 hsa-miR-141 hsa-miR-9 hsa-miR-144
    SwitchGear 3'UTR luciferase reporter plasmidSLC1A1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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    OriGene ORF clones in mouse, rat for SLC1A1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SLC1A1 (NM_004170)
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SLC1A1
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                         Customized lentivirus expression plasmids for stable overexpression of SLC1A1 

    Cell Line
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    Search LifeMap BioReagents cell lines for SLC1A1
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC1A1


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SLC1A1 About   (see all 11)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.67
    2Amino acid and oligopeptide SLC transporters
    Amino acid and oligopeptide SLC transporters0.63
    Transport of inorganic cations/anions and amino acids/oligopeptides0.52
    3SLC-mediated transmembrane transport
    SLC-mediated transmembrane transport0.50
    Transmembrane transport of small molecules0.50
    4GABA synthesis, release, reuptake and degradation
    Neurotransmitter Release Cycle0.53
    5Serotonin Neurotransmitter Release Cycle
    Glutamate Neurotransmitter Release Cycle0.44

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for SLC1A1
        Selected targets of ESR1
    Glutamic acid signaling

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for SLC1A1
        Pathogenesis of ALS

    1 Cell Signaling Technology (CST) Pathway for SLC1A1
        Neuroscience

    5/8        Reactome Pathways for SLC1A1 (see all 8)
        Glutamate Neurotransmitter Release Cycle
    SLC-mediated transmembrane transport
    Transmembrane transport of small molecules
    Transmission across Chemical Synapses
    Amino acid and oligopeptide SLC transporters


    2         Kegg Pathways  (Kegg details for SLC1A1):
        Glutamatergic synapse
    Protein digestion and absorption


    SLC1A1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SLC1A1

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5/6 Interacting proteins for SLC1A1 (P430053 ENSP000002623524) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARL6IP5O759153, ENSP000002732584I2D: score=3 STRING: ENSP00000273258
    PRKCAP172523, ENSP000002843844I2D: score=2 STRING: ENSP00000284384
    EWSR1Q018443, ENSP000003810314I2D: score=3 STRING: ENSP00000381031
    HCCSP537013I2D: score=1 
    KNCNENSP000003796074STRING: ENSP00000379607
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811ion transport TAS--
    GO:0006835dicarboxylic acid transport ----
    GO:0007268synaptic transmission TAS7521911
    GO:0015813L-glutamate transport ----
    GO:0051260protein homooligomerization IEA--

    SLC1A1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SLC1A1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for SLC1A1 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]

    2 HMDB Compounds for SLC1A1    About this table
    CompoundSynonyms CAS #PubMed Ids
    L-Glutamic acid(2S)-2-Aminopentanedioate (see all 49)56-86-0--
    SodiumSodium (see all 2)7440-23-5--

    3 DrugBank Compounds for SLC1A1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Aspartic Acid(+)-Aspartic acid (see all 23)56-84-8target--17535962 17346885 17389249 17663137
    L-Glutamic Acid(2S)-2-Aminopentanedioic acid (see all 15)56-86-0target--16959378 16831195 17389249 17382927
    PregabalinCI-1008 (see all 2)148553-50-8transporterOther22511482

    6 IUPHAR Ligands for SLC1A1 (Excitatory amino acid transporter 3)    About this table 
    LigandTypeActionAffinityPubmed IDs
    NBI-59159
    InhibitorInhibition7.6--
    [3H]ETB-TBOA
    NoneNone6.5--
    L-β-BA
    InhibitorInhibition6.1--
    DL-TBOA
    InhibitorInhibition5.1--
    [3H]L-aspartic acid
    NoneNone5.1--
    [3H]D-aspartic acid
    NoneNone5.1--

    10/23 Novoseek inferred chemical compound relationships for SLC1A1 gene (see all 23)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dihydrokainate 85.7 1 17646425 (1)
    glutamate 83.6 187 12419818 (4), 12401608 (4), 9383213 (3), 15135231 (3) (see all 89)
    threo-beta-hydroxyaspartate 79.3 2 11677257 (1)
    aspartate 64.6 51 16566829 (6), 11141075 (3), 20080957 (2), 9224806 (1) (see all 10)
    chelerythrine 48.9 7 16340463 (1), 12170065 (1), 19041863 (1), 12401608 (1)
    wortmannin 44.9 7 15707698 (2), 10671571 (1), 9502808 (1), 19041863 (1) (see all 5)
    phosphatidylinositol 40.6 5 10671571 (2), 12401608 (2), 19041863 (1)
    nmda 39.9 17 17459877 (5), 12626876 (2), 11198298 (1)
    gaba 39.5 11 15145073 (1), 15197183 (1), 10025773 (1), 11198298 (1) (see all 6)
    glutamine 36.1 2 12419818 (1), 15736956 (1)

    Search CenterWatch for drugs/clinical trials and news about SLC1A1 / EAA3

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SLC1A1 gene: 
    NM_004170.5  

    Unigene Cluster for SLC1A1:

    Solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1
    Hs.444915  [show with all ESTs]
    Unigene Representative Sequence: NM_004170
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000262352(uc003zij.2) ENST00000490167 ENST00000422398

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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC1A1
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SLC1A1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SLC1A1

    Additional mRNA sequence: 

    AB008536.1 AF037982.1 AK313013.1 BC033040.1 U03506.1 U06469.1 U08989.1 

    3 DOTS entries:

    DT.452392  DT.100786355  DT.100660296 

    24/107 AceView cDNA sequences (see all 107):

    CA417572 AA973081 CB157322 BX283664 BQ029108 CA313176 CB216575 AI468424 
    AA313154 AI220413 AU133146 AA280190 CN480631 AA350377 BM717364 BM674731 
    BM674141 AW771298 BI762313 AW963090 CF265049 BQ008494 AB008536 AA505172 

    GeneLoc Exon Structure


    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SLC1A1 expression in normal human tissues (normalized intensities)      SLC1A1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTAAGAAAT
    SLC1A1 Expression
    About this image


    SLC1A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/13 selected tissues (see all 13) fully expand
     
     Brain (Nervous System)    fully expand to see all 21 entries
             Endothelial Cells Blood Brain Barrier
             Thalamus
             Septum   
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Inner Cell Mass Cells Inner Cell Mass
             Blimp1- mVenus and stella-ECFP genetically modified stem cells
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Dorsal Horn   
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Telencephalon
     
     Smooth Muscle (Muscoskeletal System)
             Coronary Artery Smooth Muscle Cells (CASMC)   

    See SLC1A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC1A1

    SOURCE GeneReport for Unigene cluster: Hs.444915

    UniProtKB/Swiss-Prot: EAA3_HUMAN, P43005
    Tissue specificity: Expressed in all tissues tested including liver, muscle, testis, ovary, retinoblastoma cell
    line, neurons and brain (in which there was dense expression in substantia nigra, red nucleus, hippocampus and in
    cerebral cortical layers)

        SABiosciences Expression via Pathway-Focused PCR Array including SLC1A1: 
              GABA & Glutamate in human mouse rat

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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SLC1A1 gene from 6/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc1a11 , 5 solute carrier family 1 (neuronal/epithelial high affinity more1, 5 85.79(n)1
    90.25(a)1
      19 (23.50 cM)5
    205101  NM_009199.21  NP_033225.11 
     288350495 
    chicken
    (Gallus gallus)
    Aves SLC1A11 solute carrier family 1 (neuronal/epithelial high affinity more 78.62(n)
    87.17(a)
      427352  XM_424930.3  XP_424930.3 
    lizard
    (Anolis carolinensis)
    Reptilia SLC1A16
    solute carrier family 1 (neuronal/epithelial high ...
    78(a)
    1 ↔ 1
    2(51936577-52000788)
    zebrafish
    (Danio rerio)
    Actinopterygii slc1a11 solute carrier family 1 (neuronal/epithelial high affinity more 69.03(n)
    74.28(a)
      436939  NM_001002666.1  NP_001002666.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Eaat13 sodium/excitatory glutamate
    cotransporter
    45(a)
    (best of 2)
        --
    worm
    (Caenorhabditis elegans)
    Secernentea glt-23 excitatory amino acid transporter 52(a)
    (best of 6)
      X(3531387-3534184)   --


    ENSEMBL Gene Tree for SLC1A1 (if available)
    TreeFam Gene Tree for SLC1A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC1A1 gene
    SLC1A32  SLC1A52  SLC1A72  SLC1A22  SLC1A42  SLC1A62  
    6 SIMAP similar genes for SLC1A1 using alignment to 2 protein entries:     EAA3_HUMAN (see all proteins):
    SLC1A2    SLC1A7    SLC1A3    SLC1A5    SLC1A4    SLC1A6

    SLC1A1 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2708 SNPs in SLC1A1 are shown (see all 2708)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0233084
    ----see VAR_0233082 F Y mis40--------
    rs1114748201,2
    C--4443982(+) TTTTTG/TTTTGA 1 -- us2k10--------
    rs725457561,2
    C--4453821(+) ATAAT-/AG/GA 
            
    GCACT
    1 -- int10--------
    rs2017543311,2
    --4483468(+) GCACG-/CTCT  
            
    CTCTC
    1 -- us2k10--------
    rs746360831,2
    C--4483487(+) TTTTTA/TTGAGA 1 -- us2k10--------
    rs1505611211,2
    C--4483548(+) CTCACC/TGCAAC 1 -- us2k10--------
    rs1144872191,2
    C,F--4483609(+) TGGGAT/CTACAG 1 -- us2k11Minor allele frequency- C:0.08WA 118
    rs20170741,2
    C,F,A--4483627(+) gccctA/Caaccc 1 -- us2k17Minor allele frequency- C:0.43NA CSA WA EA 366
    rs1384592631,2
    C--4483707(+) TCAAGG/TGATCC 1 -- us2k10--------
    rs18072761,2
    C,F,A,H--4483747(+) ttacaA/Ggtgtg 1 -- us2k18Minor allele frequency- G:0.45NS NA WA EA 370

    HapMap Linkage Disequilibrium report for SLC1A1 (4490427 - 4587469 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/23 variations for SLC1A1 (see all 23):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2738154CNV Deletion23290073
    esv2051616CNV Deletion18987734
    esv2656609CNV Deletion23128226
    esv2422074CNV Deletion20811451
    esv2678426CNV Deletion23128226
    nsv824822CNV Loss20364138
    nsv8407CNV Loss18304495
    nsv515747CNV Loss19592680
    nsv819362CNV Loss19587683
    nsv528488CNV Loss19592680


    Human Gene Mutation Database (HGMD): SLC1A1
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 133550   
    OMIM disorders: 222730  
    20/39 diseases for SLC1A1 (see all 39):    About MalaCards
    dicarboxylic aminoaciduria    ischemia    traumatic brain injury    brain injury
    neuronitis    hemimegalencephaly    spinal cord ischemia    obsessive-compulsive disorder
    aminoaciduria    hepatic encephalopathy    schizophrenia    ganglioglioma
    transient cerebral ischemia    spinal cord injury    temporal lobe epilepsy    lissencephaly
    synovitis    autism spectrum disorder    retinal degeneration    anorexia nervosa


    SLC1A1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10 Novoseek inferred disease relationships for SLC1A1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glioma 50.3 18 15197183 (2), 9502808 (2), 19450544 (2), 19133225 (2) (see all 11)
    neurodegeneration 36.6 1 17607354 (1)
    epilepsy temporal lobe 34.2 1 16959903 (1)
    neurological disorders 26.6 1 15804404 (1)
    astrocytoma 21.3 1 10519046 (1)
    epilepsy 19.6 4 12875997 (2), 20231455 (1)
    obsessive-compulsive disorder 12.5 1 11317217 (1)
    ischemia 5.06 9 12626876 (2), 10366190 (2), 9307255 (1), 14530974 (1)
    schizophrenia 0 4 11532723 (2), 16297566 (1), 18678470 (1)
    shock 0 1 8647808 (1)

    Genetic Association Database (GAD): SLC1A1
    Human Genome Epidemiology (HuGE) Navigator: SLC1A1 (19 documents)

    Export disorders for SLC1A1 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)
    About This Section

    PubMed articles for SLC1A1 gene, integrated from 9 sources (see all 199):
    (articles sorted by number of sources associating them with SLC1A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Association testing of the positional and functional candidate gene SLC1A1/EAAC1 in early-onset obsessive-compulsive disorder. (PubMed id 16818867)1, 4, 9 Dickel D.E....Hanna G.L. (2006)
    2. Genomic organization of the SLC1A1/EAAC1 gene and mutation screening in early-onset obsessive-compulsive disorder. (PubMed id 11317217)1, 2, 9 Veenstra-VanderWeele J.... Cook E.H. Jr. (2001)
    3. Functional comparisons of three glutamate transporter subtypes cloned from human motor cortex. (PubMed id 7521911)1, 2, 9 Arriza J.L.... Amara S.G. (1994)
    4. Association study of 182 candidate genes in anorexia nervosa. (PubMed id 20468064)1, 4 Pinheiro A.P....Woodside D.B. (2010)
    5. Analysis of 9p24 and 11p12-13 regions in autism spect rum disorders: rs1340513 in the JMJD2C gene is associated with ASDs in Finnish sample. (PubMed id 20410850)1, 4 KantojAorvi K....JAorvelAo I. (2010)
    6. Comprehensive copy number variant (CNV) analysis of n euronal pathways genes in psychiatric disorders identifies rare variants within patients. (PubMed id 20398908)1, 4 Saus E....Estivill X. (2010)
    7. Association of the glutamate transporter gene SLC1A1 with atypical antipsychotics-induced obsessive-compulsive symptoms. (PubMed id 19884611)1, 4 Kwon J.S....Hong K.S. (2009)
    8. A haplotype containing quantitative trait loci for SLC1A1 gene expression and its association with obsessive-compulsive disorder. (PubMed id 19349310)1, 4 Wendland J.R....Murphy D.L. (2009)
    9. Pharmacogenetics of antipsychotic response in the CATIE trial: a candidate gene analysis. (PubMed id 19156168)1, 4 Need A.C....Goldstein D.B. (2009)
    10. A family-based association study of the glutamate transporter gene SLC1A1 in obsessive-compulsive disorder in 378 families. (PubMed id 19152386)1, 4 Shugart Y.Y....Nestadt G. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 6505 HGNC: 10939 AceView: SLC1A1 Ensembl:ENSG00000106688 euGenes: HUgn6505
    ECgene: SLC1A1 Kegg: 6505 H-InvDB: SLC1A1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SLC1A1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC1A1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SLC1A1 gene:
    Search GeneIP for patents involving SLC1A1

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



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    About This Section

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