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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...
 Explore 40 diseases affiliated with
SLC1A1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SLC1A1    

Aliases
for SLC1A1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Solute Carrier Family 1 (Neuronal/Epithelial High Affinity Glutamate
Transporter, System Xag), Member 11 2
     Solute Carrier Family 1 Member 12 3
EAAC11 2 3 5     Excitatory Amino Acid Carrier 12
EAAT31 2 3     Excitatory Amino Acid Transporter 32
Neuronal And Epithelial Glutamate Transporter2 3     Excitatory Amino-Acid Carrier 13
Sodium-Dependent Glutamate/Aspartate Transporter 32 3     

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


Summaries
for SLC1A1 gene

(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:
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)

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:
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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.1  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 plasmid: SLC1A1 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

Proteins
for SLC1A1 gene

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

Post-translational modifications:

  • Glycosylated1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P43005

    • SLC1A1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_004161.4  
    ENSEMBL proteins: 
     ENSP00000262352   ENSP00000414620  
    Reactome Protein details: P43005
    Human Recombinant Protein Products: 
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    Uscn Proteins for SLC1A1

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005624membrane fraction ----
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane TAS7521911
    GO:0016020membrane TAS7521911


    SLC1A1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for SLC1A1

    Protein Domains /
    Families
    for SLC1A1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SLC1A1 for domains           About GeneDecksing

    2 InterPro domains/families:
     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 family: 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


    Function
    for SLC1A1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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)

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

    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 plasmid: SLC1A1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    Cell Line
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    Search LifeMap BioReagents cell lines for SLC1A1

    In Situ Assay
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    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


    Animal Models:
         Mouse knock-out Slc1a1tm1Wst for SLC1A1
         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


    Pathways & Interactions
    for SLC1A1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/11 super-pathways (see all 11) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Amino acid and oligopeptide SLC transporters
    		Amino acid and oligopeptide SLC transporters1.00
    		Transport of inorganic cations/anions and amino acids/oligopeptides0.52
    2SLC-mediated transmembrane transport
    		SLC-mediated transmembrane transport1.00
    		Transmembrane transport of small molecules0.50
    3Transmission across Chemical Synapses
    		Transmission across Chemical Synapses1.00
    		Neuronal System0.67
    4Neuroscience
    		Neuroscience1.00
    5Glutamic acid signaling
    		Glutamic acid signaling1.00

    Pathway sources
    See GeneCards unified pathways
    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): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811ion transport TAS--
    GO:0007268synaptic transmission TAS7521911
    GO:0015813L-glutamate transport ----
    GO:0051260protein homooligomerization IEA--
    GO:0051938L-glutamate import IDA7521911


    SLC1A1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SLC1A1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 #
    L-trans-2,4-PDC Transportable EAAT1-4 inhibitor/non-transportable EAAT5 inhibitor[64769-66-0]
    DL-TBOASelective non-transportable inhibitor of EAATs--
    L-CCG-lll Potent, competitive glutamate uptake inhibitor [117857-95-1]
    7-Chlorokynurenic acidPotent competitive inhibitor of L-glutamate uptake[18000-24-3]
    L-(-)-threo-3-Hydroxyaspartic acidTransportable EAAT1-4 inhibitor/non-transportable EAAT5 inhibitor[7298-99-9]

    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--

    2 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

    10/23 Novoseek 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 

    Transcripts
    for SLC1A1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, 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

    miRNA
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    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
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    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA 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):

    BI762313 F06326 CB217145 AB008536 AA505172 BE465801 BQ008494 CF265049 
    AW963090 AA280190 BM674141 AI220413 AU133146 BM674731 CN480631 AA350377 
    BM717364 CA313176 CB216575 BQ029108 CB157322 BX283664 CA417572 AA973081 

    GeneLoc Exon Structure


    Expression
    for SLC1A1 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTTAAGAAAT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    SLC1A1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainBlood Brain BarrierEndothelial CellsBlood Brain Barrier, Endothelium
    EyeOuter Nuclear LayerMature Rod CellsPhotoreceptors, Retina
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Mature brain microvascular endothelial cells (Derivation of blood-...)

    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

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

    Orthologs
    for SLC1A1 gene

    (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 last universal common ancestor (LUCA).

    Orthologs for SLC1A1 gene from 6/25 species (see all 25)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 80(a)
    		 1 ↔ 1
    		 2(51953324-51996427)
    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)   --
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria dctA6
    gltP6
    (see all 3)    		 glutamate/aspartate:proton symporter
    (see all 3)    		 25(a)
    25(a)
    (see all 3)    		 possible ortholog
    possible ortholog
    (see all 3)    		 Chromosome(3680184-3681470)
    Chromosome(4292504-4293817)


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

    Paralogs
    for SLC1A1 gene

    (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    SLC1A5    SLC1A3    SLC1A6    SLC1A7    SLC1A4

    SLC1A1 for paralogs           About GeneDecksing



    Genomic Variants
    for SLC1A1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/2255 NCBI SNPs in SLC1A1 are shown (see all 2255)     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--------
    rs1114366581,2
    		--4444275(+) CTGACA/TTTTCT 1 -- us2k12Minor allele frequency- T:0.07CSA WA 120
    rs733961621,2
    		C,--4444341(+) CAAAGT/CTTACT 1 -- us2k13Minor allele frequency- C:0.19WA 122
    rs575336771,2
    		C,F,--4445304(+) CAAAGC/ACCTAG 1 -- us2k14Minor allele frequency- A:0.34WA CSA 124
    rs120002191,2
    		H--4445610(+) GATCCC/GGggtg 1 -- ut51 ese30--------
    rs749077041,2
    		F,--4446056(+) AGAACA/TAAGCT 1 -- int11Minor allele frequency- T:0.06WA 118
    rs1164516541,2
    		C,F,--4446161(+) AGCTCT/CTGGTT 1 -- int11Minor allele frequency- C:0.05WA 118
    rs1134539551,2
    		--4446300(+) ACAGTG/TCTCAG 1 -- int11Minor allele frequency- T:0.50CSA 2
    rs768028731,2
    		C,F,--4446552(+) TTCTCC/TTGCCT 1 -- int11Minor allele frequency- T:0.03WA 118
    rs791059851,2
    		F,--4447095(+) GATTCT/ACCAGA 1 -- int11Minor allele frequency- A:0.05WA 118

    HapMap Linkage Disequilibrium report for SLC1A1 (4490427 - 4587469 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 12 variations for SLC1A1
         9 CNVs: 2785 10283 38742 52822 10284 65314 52821 95813 33067
         3 Indels: 47718 59531 41145
    Human Gene Mutation Database (HGMD): SLC1A1

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    Disorders / Diseases
    for SLC1A1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    SLC1A1 for disorders           About GeneDecksing

    OMIM gene information: 133550   
    OMIM disorders: 222730  
    20/40 diseases for SLC1A1 (see all 40):    About MalaCards
    traumatic brain injury    brain injury    obsessive-compulsive disorder    ischemia
    neuronitis    spinal cord injury    spinal cord ischemia    schizophrenia
    temporal lobe epilepsy    dicarboxylicaminoaciduria    transient cerebral ischemia    autism spectrum disorder
    amyotrophic lateral sclerosis    lateral sclerosis    anorexia nervosa    hemimegalencephaly
    aminoaciduria    ganglioglioma    hepatic encephalopathy    retinal degeneration

    10 Novoseek 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

    Publications
    for SLC1A1 gene

    (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 194):
    (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. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (2004)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. Neuron-specific human glutamate transporter: molecular cloning, characterization and expression in human brain. (PubMed id 7859077)1, 2 Shashidharan P.... Plaitakis A. (1994)
    7. Assignment of the gene coding for the human high-affinity glutamate transporter EAAC1 to 9p24: potential role in dicarboxylic aminoaciduria and neurodegenerative disorders. (PubMed id 8020993)1, 3 Smith C.P....Hediger M.A. (1994)
    8. The neuronal and epithelial human high affinity glutamate transporter. Insights into structure and mechanism of transport. (PubMed id 7914198)1, 2 Kanai Y.... Hediger M.A. (1994)
    9. Regulation of glutathione synthesis via interaction between glutamate transport-associated protein 3-18 (GTRAP3-18) and excitatory amino acid carrier-1 (EAAC1) at plasma membrane. (PubMed id 17646425)1, 9 Watabe M....Nakaki T. (2007)
    10. EAAC1 is expressed in rat and human prostate epithelial cells; functions as a high-affinity L-aspartate transporter; and is regulated by prolactin and testosterone. (PubMed id 16566829)1, 9 Franklin R.B....Costello L.C. (2006)

    External Searches for SLC1A1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing SLC1A1 gene

    (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

    Other Databases showing SLC1A1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SLC1A1 gene

    (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

    Intellectual Property
    for SLC1A1 gene

    (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:
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