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SLC1A6 Gene

protein-coding   GIFtS: 63
GCID: GC19M015060

Solute Carrier Family 1 (High Affinity Aspartate/Glutamate...

  See 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 (High Affinity Aspartate/Glutamate
Transporter), Member 61 2
Sodium-Dependent Glutamate/Aspartate Transporter2 3
Solute Carrier Family 1 Member 62 3
EAAT42 3
Excitatory Amino Acid Transporter 42

External Ids:    HGNC: 109441   Entrez Gene: 65112   Ensembl: ENSG000001051437   OMIM: 6006375   UniProtKB: P486643   

Export aliases for SLC1A6 gene to outside databases

Previous GC identifers: GC19M015440 GC19M014906 GC19M014921 GC19M014628


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for SLC1A6 Gene:
SLC1A6 (solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6) is a protein-coding gene. Diseases associated with SLC1A6 include ossifying fibromyxoid tumor, and early myoclonic encephalopathy. GO annotations related to this gene include L-aspartate transmembrane transporter activity and L-glutamate transmembrane transporter activity. An important paralog of this gene is SLC1A3.

UniProtKB/Swiss-Prot: EAA4_HUMAN, P48664
Function: Transports L-glutamate and also L- and D-aspartate. Seems to act as a symport by cotransporting sodium

summary for SLC1A6 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 SLC1A6 (Excitatory amino-acid transporter 4) 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:
NC_000019.10  NT_011295.12  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC1A6 gene promoter:
         TBP   SREBP-1c   E47   SREBP-1b   c-Ets-1   HEN1   PPAR-gamma1   SREBP-1a   Chx10   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC1A6 promoter sequence
   Search Chromatin IP Primers for SLC1A6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC1A6


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

Entrez Gene cytogenetic band: 19p13.12   Ensembl cytogenetic band:  19p13.12   HGNC cytogenetic band: 19p13.12

SLC1A6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC1A6 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M015060:  view genomic region     (about GC identifiers)

Start:
15,060,846 bp from pter      End:
15,133,802 bp from pter
Size:
72,957 bases      Orientation:
minus 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: EAA4_HUMAN, P48664 (See protein sequence)
Recommended Name: Excitatory amino acid transporter 4  
Size: 564 amino acids; 61565 Da

Explore the universe of human proteins at neXtProt for SLC1A6: NX_P48664

Explore proteomics data for SLC1A6 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SLC1A6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001259016.1  NP_001259017.1  NP_005062.1  

    ENSEMBL proteins: 
     ENSP00000409386   ENSP00000221742   ENSP00000471038   ENSP00000471781   ENSP00000446175  
     ENSP00000471562   ENSP00000472837   ENSP00000469551   ENSP00000471129   ENSP00000472133  
    Reactome Protein details: P48664

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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 4
    Glutamate transporter subfamily

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

    Graphical View of Domain Structure for InterPro Entry P48664

    ProtoNet protein and cluster: P48664

    1 Blocks protein domain: IPB001991 Sodium:dicarboxylate symporter

    UniProtKB/Swiss-Prot: EAA4_HUMAN, P48664
    Similarity: Belongs to the sodium:dicarboxylate (SDF) symporter (TC 2.A.23) family. SLC1A6 subfamily


    SLC1A6 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: EAA4_HUMAN, P48664
    Function: Transports L-glutamate and also L- and D-aspartate. Seems to act as a symport by cotransporting sodium

         Genatlas biochemistry entry for SLC1A6:
    solute carrier family 1,member 6 (high affinity aspartate/glutamate transport)

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005313L-glutamate transmembrane transporter activity IEA--
    GO:0015183L-aspartate transmembrane transporter activity TAS7791878
    GO:0017153sodium:dicarboxylate symporter activity IEA--
         
    SLC1A6 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for SLC1A6:
     Decreased Wnt reporter activit  Large cells 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Slc1a6):
     nervous system 

    SLC1A6 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Slc1a6tm1Dbe for SLC1A6

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SLC1A6
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    hsa-mir-26b-5p (MIRT028877)

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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
    EAA4_HUMAN, P48664: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    extracellular2
    golgi apparatus2
    cytoskeleton1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005794Golgi apparatus IEA--
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane TAS7791878
    GO:0016020membrane TAS7791878

    SLC1A6 for ontologies           About GeneDecksing


    (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 SLC1A6 About                                                                                                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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Reactome Pathways for SLC1A6
        Glutamate Neurotransmitter Release Cycle
    Transport of inorganic cations/anions and amino acids/oligopeptides


    1 Kegg Pathway  (Kegg details for SLC1A6):
        Glutamatergic synapse


    SLC1A6 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including SLC1A6: 
              GABA & Glutamate in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SLC1A6

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    Selected Interacting proteins for SLC1A6 (P486643 ENSP000002217424) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARHGEF11O150853, ENSP000003571774I2D: score=2 STRING: ENSP00000357177
    ARIH2O953763I2D: score=4 
    FTH1P027943I2D: score=1 
    KRTAP4-12Q9BQ663I2D: score=1 
    MDFIQ997503I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811ion transport TAS--
    GO:0006835dicarboxylic acid transport ----
    GO:0007268synaptic transmission TAS7791878
    GO:0015810aspartate transport TAS7791878
    GO:0015813L-glutamate transport TAS7791878

    SLC1A6 for ontologies           About GeneDecksing



    (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 SLC1A6 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 SLC1A6    About this table
    CompoundSynonyms CAS #PubMed Ids
    SodiumSodium (see all 2)7440-23-5--

    1 DrugBank Compound for SLC1A6    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Glutamic Acid(2S)-2-Aminopentanedioic acid (see all 15)56-86-0target--9838098 17139284 9224806 17016423

    5 IUPHAR Ligands for SLC1A6 (Excitatory amino acid transporter 4)    About this table
    LigandTypeActionAffinityPubmed IDs
    [3H]ETB-TBOA
    NoneNone7.6--
    DL-TBOA
    InhibitorInhibition5.411677257
    threo-3-methylglutamate
    InhibitorInhibition4.311299317
    [3H]L-aspartic acid
    NoneNone4.3--
    [3H]D-aspartic acid
    NoneNone4.3--

    3 Novoseek inferred chemical compound relationships for SLC1A6 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glutamate 70.7 46 20110679 (3), 11242047 (3), 10812201 (3), 10963969 (2) (see all 23)
    chloride 44.2 4 9838098 (1), 9330365 (1)
    aspartate 36.7 4 9224806 (1), 19289926 (1), 18540911 (1), 10812201 (1)



    SLC1A6 for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SLC1A6 gene (3 alternative transcripts): 
    NM_001272087.1  NM_001272088.1  NM_005071.2  

    Unigene Cluster for SLC1A6:

    Solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6
    Hs.515217  [show with all ESTs]
    Unigene Representative Sequence: AB209199
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000430939(uc010xod.1) ENST00000221742(uc002naa.1 uc010dzu.1 uc002nad.1)
    ENST00000600144 ENST00000598504 ENST00000544886(uc002nab.3 uc002nac.3)
    ENST00000596697 ENST00000597262 ENST00000599636 ENST00000595863 ENST00000601761
    ENST00000594383
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    Additional mRNA sequence: 

    AB209199.1 AK302380.1 AK312996.1 BC028721.2 BC040604.1 NR_073589.1 U18244.1 

    5 DOTS entries:

    DT.97764338  DT.210147  DT.121503564  DT.97820049  DT.95265185 

    Selected AceView cDNA sequences (see all 30):

    BC028721 BX284034 AA351028 BG697829 AW298350 BI919070 BI463517 BI829415 
    BX452033 BE551895 AI024433 Z40963 BM808606 AI243717 BC040604 BM727027 
    AI127656 NM_005071 BI915531 U18244 F07883 AL536224 H23171 AA326054 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SLC1A6 (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for SLC1A6

    (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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    SLC1A6 expression in normal human tissues (normalized intensities)      SLC1A6 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCAAAAAAA
    SLC1A6 Expression
    About this image


    SLC1A6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 13 entries
             Thalamus
     
     Inner Cell Mass (Early Embryonic Tissues)
             C2a
     
     Blood (Hematopoietic System)
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
     
     Neural Tube (Nervous System)
             Metencephalon
     
     Testis (Reproductive System)
    SLC1A6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC1A6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.515217

    UniProtKB/Swiss-Prot: EAA4_HUMAN, P48664
    Tissue specificity: Brain. Expressed densely and selectively in cell bodies of Purkinje cells

        Pathway & Disease-focused RT2 Profiler PCR Array including SLC1A6: 
              GABA & Glutamate in human mouse rat

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    In Situ
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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 SLC1A6 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc1a61 , 5 solute carrier family 1 (high affinity aspartate/glutamate more1, 5 88(n)1
    95.54(a)1
      10 (39.72 cM)5
    205131  NM_009200.31  NP_033226.11 
     787804965 
    chicken
    (Gallus gallus)
    Aves SLC1A61 solute carrier family 1 (high affinity aspartate/glutamate more 73.72(n)
    76.75(a)
      420057  XM_004948654.1  XP_004948711.1 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004945061 excitatory amino acid transporter 1-like 66.67(n)
    71.91(a)
      100494506  XM_004911006.1  XP_004911063.1 
    zebrafish
    (Danio rerio)
    Actinopterygii slc1a61 solute carrier family 1 (high affinity aspartate/glutamate more 65.51(n)
    66.85(a)
      559270  NM_001109703.1  NP_001103173.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Eaat11 , 3 sodium/excitatory glutamate
    cotransporter3
    Excitatory amino acid transporter 11
    45(a)
    (best of 2)3
    54.5(n)1
    48.96(a)1
      342511  NM_001201822.21  NP_001188751.11 


    ENSEMBL Gene Tree for SLC1A6 (if available)
    TreeFam Gene Tree for SLC1A6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SLC1A6 gene
    SLC1A32  SLC1A52  SLC1A72  SLC1A12  SLC1A22  SLC1A42  
    6 SIMAP similar genes for SLC1A6 using alignment to 9 protein entries:     EAA4_HUMAN (see all proteins):
    SLC1A3    SLC1A7    SLC1A2    SLC1A4    SLC1A1    SLC1A5

    SLC1A6 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), 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 SLC1A6 (see all 1542)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1816935221,2
    --15060345(+) ACCTCC/TGCCTC 2 -- int10--------
    rs1856518771,2
    --15060353(+) CTCCCA/GGGTTC 2 -- int10--------
    rs1415114501,2
    --15060355(+) CCCGGC/GTTCAA 2 -- int10--------
    rs104202061,2
    C,F,A--15060394(+) AGCTGG/AGACTA 2 -- int16Minor allele frequency- A:0.33NA WA 12
    rs104196061,2
    C,F,A--15060457(+) GTTTCT/CCCATG 2 -- int14Minor allele frequency- C:0.38NA WA CSA 8
    rs1424693661,2
    C--15060496(+) CTCATA/GATCTG 2 -- int10--------
    rs730113091,2
    C--15060755(+) CTCCCC/GAAACC 2 -- int13Minor allele frequency- G:0.13NA EA 242
    rs1439778561,2
    --15060771(+) GAAACA/GTTTCT 2 -- int10--------
    rs1904170201,2
    --15060796(+) CACGCC/TGTCCT 2 -- int10--------
    rs1487700801,2
    --15060797(+) ACGCCA/GTCCTT 2 -- int10--------

    HapMap Linkage Disequilibrium report for SLC1A6 (15060846 - 15133802 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for SLC1A6:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv510756CNV Loss20534489
    nsv2424CNV Loss18451855
    nsv911129CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC1A6
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC1A6

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600637    OMIM disorders: --

    13 diseases for SLC1A6:    About MalaCards
    ossifying fibromyxoid tumor    early myoclonic encephalopathy    traumatic brain injury    canavan disease
    brain injury    ischemia    chronic fatigue syndrome    schizophrenia
    hyperparathyroidism    neuronitis    retinitis    tuberculosis
    cerebritis

    2 diseases from the University of Copenhagen DISEASES database for SLC1A6:
    Early myoclonic encephalopathy     Chronic fatigue syndrome

    SLC1A6 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SLC1A6
    Human Genome Epidemiology (HuGE) Navigator: SLC1A6 (4 documents)

    Export disorders for SLC1A6 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 SLC1A6 gene, integrated from 10 sources (see all 42):
    (articles sorted by number of sources associating them with SLC1A6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. An excitatory amino-acid transporter with properties of a ligand- gated chloride channel. (PubMed id 7791878)1, 2, 3 Fairman W.A....Amara S.G. (Nature 1995)
    2. 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)
    3. L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms. (PubMed id 20424473)1, 4 Yokoyama K....Hosoya T. (Nephron Clin Pract 2010)
    4. 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)
    5. 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)
    6. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)1, 2 Grimwood J.... Lucas S.M. (Nature 2004)
    7. EAAT4 phosphorylation at the SGK1 consensus site is required for transport modulation by the kinase. (PubMed id 17442044)1, 9 Rajamanickam J....Boehmer C. (J. Neurochem. 2007)
    8. Modulation of the neuronal glutamate transporter EAAT4 by two interacting proteins. (PubMed id 11242047)1, 9 Jackson M....Rothstein J.D. (Nature 2001)
    9. Molecular cloning and expression of the rat EAAT4 glutamate transporter subtype. (PubMed id 9838098)7, 9 Lin C.L....Rothstein J.D. (Brain Res. Mol. Brain Res. 1998)
    10. High affinity glutamate transporters: regulation of expression and activity. (PubMed id 9224806)7, 9 Gegelashvili G. and Schousboe A. (Mol. Pharmacol. 1997)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 6511 HGNC: 10944 AceView: SLC1A6 Ensembl:ENSG00000105143 euGenes: HUgn6511
    ECgene: SLC1A6 Kegg: 6511 H-InvDB: SLC1A6

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for SLC1A6 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SLC1A6 gene:
    Search GeneIP for patents involving SLC1A6

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



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