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SLC1A1 Gene

protein-coding   GIFtS: 64
GCID: GC09P004490

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

  See SLC1A1-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 (Neuronal/Epithelial High Affinity Glutamate
Transporter, System Xag), Member 11 2
     EAAT32 3
EAAC12 3 5     SCZD182 5
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 GC09P004480


(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 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 schizophrenia susceptibility 18, and dicarboxylic aminoaciduria. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000009.11  NC_018920.2  NT_008413.19  
Regulatory elements:
   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 Chromatin IP Primers for SLC1A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 GC09P004490:  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 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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)
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: 

  • Glycosylated1
  • Glycosylation2 at Asn43, Asn178, Asn195
  • Modification sites at PhosphoSitePlus

  • See SLC1A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004161.4  
    ENSEMBL proteins: 
     ENSP00000262352   ENSP00000414620  
    Reactome Protein details: P43005

    SLC1A1 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
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    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for SLC1A1 

    SLC1A1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of SLC1A1
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    LSBio Antibodies in human, mouse, rat for SLC1A1

    SLC1A1 Assay Products:

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    Browse ELISAs at Cloud-Clone Corp.
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    Search eBioscience for ELISAs for SLC1A1 


    (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 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


    Find genes that share domains with SLC1A1           About GenesLikeMe


    (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,
    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: 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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005313L-glutamate transmembrane transporter activity IDA7521911
    GO:0005515protein binding ----
    GO:0015501glutamate:sodium symporter activity IEA--
    GO:0016595glutamate binding IEA--
    GO:0017153sodium:dicarboxylate symporter activity IEA--
         
    Find genes that share ontologies with SLC1A1           About GenesLikeMe


    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 

    Find genes that share phenotypes with SLC1A1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Slc1a1tm1Wst for SLC1A1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SLC1A1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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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    miRTarBase miRNAs that target SLC1A1:
    hsa-mir-335-5p (MIRT018599)

    Block miRNA regulation of human, mouse, rat SLC1A1 using miScript Target Protectors
    Selected qRT-PCR 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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    GenScript: all cDNA clones in your preferred vector: SLC1A1 (NM_004170)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SLC1A1
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    Addgene plasmids for SLC1A1 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC1A1


    (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
    EAA3_HUMAN, P43005: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    extracellular2
    cytosol1
    nucleus1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane TAS7521911
    GO:0016020membrane TAS7521911
    GO:0070062extracellular vesicular exosome IDA19056867

    Find genes that share ontologies with SLC1A1           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 SLC1A1 About   (see all 9)  
    See pathways by source

    SuperPathContained pathways About
    1Transport 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
    2Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.68
    3Neurotransmitter Release Cycle
    Neurotransmitter Release Cycle0.32
    Glutamate Neurotransmitter Release Cycle0.00
    4Circadian entrainment
    Glutamatergic synapse0.39
    5Amyotrophic lateral sclerosis (ALS)
    Pathogenesis of ALS0.31


    Find genes that share SuperPaths with SLC1A1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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

    1 Cell Signaling Technology (CST) Pathway for SLC1A1
        Neuroscience

    2 Reactome Pathways for SLC1A1
        Glutamate Neurotransmitter Release Cycle
    Transport of inorganic cations/anions and amino acids/oligopeptides


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

        Pathway & Disease-focused RT2 Profiler PCR Array including SLC1A1: 
              GABA & Glutamate in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SLC1A1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    Selected Interacting proteins for SLC1A1 (P430053 ENSP000002623524) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARL6IP5O759153, ENSP000002732584I2D: score=3 STRING: ENSP00000273258
    PRKCAP172523, ENSP000002843844I2D: score=2 STRING: ENSP00000284384
    HCCSP537013, ENSP000003265794I2D: score=1 STRING: ENSP00000326579
    EWSR1Q018443, ENSP000003810314I2D: score=3 STRING: ENSP00000381031
    KNCNENSP000003796074STRING: ENSP00000379607
    About this table

    Gene Ontology (GO): Selected biological process terms (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--

    Find genes that share ontologies with SLC1A1           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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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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-beta-BA
    InhibitorInhibition6.1--
    DL-TBOA
    InhibitorInhibition5.1--
    [3H]L-aspartic acid
    NoneNone5.1--
    [3H]D-aspartic acid
    NoneNone5.1--

    Selected 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)



    Find genes that share compounds with SLC1A1           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 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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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SLC1A1
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SLC1A1
      QuantiTect SYBR Green Assays in human, mouse, rat SLC1A1
      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 

    Selected 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™, 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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    SLC1A1 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 10) fully expand
     
     Brain (Nervous System)    fully expand to see all 12 entries
             Endothelial Cells Blood Brain Barrier
             Thalamus
             Oligodendrocyte-like cells
     
     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
     
     Endothelium (Cardiovascular System)    fully expand to see all 2 entries
             Endothelial Cells Blood Brain Barrier
             Mature brain microvascular endothelial cells
     
     Dermis (Integumentary System)    fully expand to see all 2 entries
             Zigzag Dermal Papilla Cells Dermal Papilla
     
     Spinal Cord (Nervous System)
             Oligodendrocyte-like cells
    SLC1A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC1A1 Protein Expression

    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)

        Pathway & Disease-focused RT2 Profiler PCR Array including SLC1A1: 
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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 SLC1A1 gene from Selected 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 77.61(n)
    84.16(a)
      427352  XM_424930.4  XP_424930.4 
    lizard
    (Anolis carolinensis)
    Reptilia SLC1A16
    solute carrier family 1 (neuronal/epithelial high ...
    78(a)
    1 ↔ 1
    2(51936577-52000788)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia slc1a11 solute carrier family 1 (neuronal/epithelial high affinity more 76.4(n)
    83.97(a)
      100498100  XM_002934182.2  XP_002934228.2 
    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_001002666.2 
    mosquito
    (Anopheles gambiae)
    Insecta AgaP_AGAP0067181 AgaP_AGAP006718 56.77(n)
    55.25(a)
      1270340  XM_309025.4  XP_309025.4 


    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)
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    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    SLC1A3    SLC1A5    SLC1A7    SLC1A4    SLC1A6

    Find genes that share paralogs with SLC1A1           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 SLC1A1 (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
    ----------
    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
    rs1492603731,2
    --4483754(+) TGTGAG/TCCATC 1 -- us2k10--------

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

    Structural Variations
         Database of Genomic Variants (DGV) Selected 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
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC1A1
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC1A1

    (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.)
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    OMIM gene information: 133550   
    OMIM disorders: 615232  
    UniProtKB/Swiss-Prot: EAA3_HUMAN, P43005
  • Schizophrenia 18 (SCZD18) [MIM:615232]: A complex, multifactorial psychotic disorder or group of
    disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in
    mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego
    boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects
    emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be
    mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive
    function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are
    often given the diagnosis of schizoaffective disorder. Note=Disease susceptibility is associated with variations
    affecting the gene represented in this entry. A deletion at the chromosome 9p24.2 locus, including SLC1A1, has
    been identified in patients with psychotic disorders (PubMed:21982423). This 84 kb deletion is immediately
    upstream of the SLC1A1 gene in a regulatory region that contains the full native promoter sequence, extends
    through exon 1 of the SLC1A1 mRNA, co-segregates with disease in an extended 5-generation pedigree and increases
    disease risk more than 18-fold for family members (PubMed:23341099)

  • 9 diseases for SLC1A1:    
    About MalaCards
    schizophrenia susceptibility 18    dicarboxylic aminoaciduria    ischemia    brain injury
    traumatic brain injury    aminoaciduria    hemimegalencephaly    obsessive-compulsive disorder
    schizophrenia


    Find genes that share disorders with SLC1A1           About GenesLikeMe

    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)
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    PubMed articles for SLC1A1 gene, integrated from 10 sources (see all 207):
    (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. (Arch. Gen. Psychiatry 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. (Mol. Psychiatry 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. (J. Neurosci. 1994)
    4. Deletion at the SLC1A1 glutamate transporter gene co-segregates with schizophrenia and bipolar schizoaffective disorder in a 5-generation family. (PubMed id 23341099)1, 2 Myles-Worsley M....Middleton F.A. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2013)
    5. Association study of 182 candidate genes in anorexia nervosa. (PubMed id 20468064)1, 4 Pinheiro A.P....Woodside D.B. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010)
    6. Analysis of 9p24 and 11p12-13 regions in autism spectrum disorders: rs1340513 in the JMJD2C gene is associated with ASDs in Finnish sample. (PubMed id 20410850)1, 4 KantojAorvi K....JAorvelAo I. (Psychiatr. Genet. 2010)
    7. Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients. (PubMed id 20398908)1, 4 Saus E....Estivill X. (J Psychiatr Res 2010)
    8. 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. (Arch. Gen. Psychiatry 2009)
    9. 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. (Arch. Gen. Psychiatry 2009)
    10. 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)

    (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: 6505 HGNC: 10939 AceView: SLC1A1 Ensembl:ENSG00000106688 euGenes: HUgn6505
    ECgene: SLC1A1 Kegg: 6505 H-InvDB: SLC1A1

    (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 SLC1A1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/gtr/tests/215139/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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