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

SLC6A1 Gene

protein-coding   GIFtS: 60
GCID: GC03P011009

solute carrier family 6 (neurotransmitter transporter, GABA),...
 Explore 16 diseases affiliated with
SLC6A1 via
MalaCards
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 Human Malady Compendium 
Biological research products
for SLC6A1    

Aliases
for SLC6A1 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 6 (Neurotransmitter Transporter, GABA), Member 11 2     Solute Carrier Family 6 Member 12 3
GABATR1 2 3 5     GAT-12 3
GAT11 2 3     Sodium- And Chloride-Dependent GABA Transporter 12
GABATHG1 2     GABT13

External Ids:    HGNC: 110421   Entrez Gene: 65292   Ensembl: ENSG000001571037   OMIM: 1371655   UniProtKB: P305313   

Export aliases for SLC6A1 gene to outside databases

Previous GC identifer: GC03P010986


Summaries
for SLC6A1 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 SLC6A1:
The SLC6A1 gene encodes a gamma-aminobutyric acid (GABA) transporter, which removes GABA from the synaptic cleft
(Hirunsatit et al., 2009 (PubMed 19077666)).(supplied by OMIM, Jul 2009)

UniProtKB/Swiss-Prot: SC6A1_HUMAN, P30531
Function: Terminates the action of GABA by its high affinity sodium-dependent reuptake into presynaptic terminals

summary for SLC6A1:
GABA transporters are sodium- and chloride-dependent members of the solute carrier family 6 (SLC6) that
mediate the rapid removal of GABA and maintain low extracellular levels. Four 12-TM domain transporters
(GAT-1, GAT-2, GAT-3 and BGT-1) have been identified and localized to neurons and glia. While GAT-1, GAT-2,
GAT-3 and BGT-1 bind GABA with varying affinities, they share structural motifs including 12-TM domains,
extracellular glycosylation sites and intracellular consensus sites for phosphorylation. A vesicular
transporter (VGAT) has also been identified. This member of the SCL32 family is both structurally and
functionally distinct, containing 10-TM domains and being found in GABAergic and glycinergic neurons. Some
anticonvulsants have been reported to act upon the GABA transporters. There is evidence to suggest that GABA
transporters are linked to epilepsy, affective disorders and schizophrenia.

Gene Wiki entry for SLC6A1 (GABA transporter 1)


Genomic Views
for SLC6A1 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_000003.11  NC_018914.1  NT_022517.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SLC6A1 gene promoter:
         HOXA9   HOXA9B   Pax-2   MyoD   Meis-1b   GATA-1   MZF-1   PPAR-gamma1   PPAR-gamma2   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SLC6A1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC6A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC6A1


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

Entrez Gene cytogenetic band: 3p25.3   Ensembl cytogenetic band:  3p25.3   HGNC cytogenetic band: 3p25.3

SLC6A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC6A1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P011009:  view genomic region     (about GC identifiers)

Start:
 11,034,410 bp from pter      End:
 11,080,935 bp from pter
Size:
 46,526 bases      Orientation:
 plus strand

Proteins
for SLC6A1 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: SC6A1_HUMAN, P30531 (See protein sequence)
Recommended Name: Sodium- and chloride-dependent GABA transporter 1  
Size: 599 amino acids; 67074 Da
Subunit: Interacts with MPP5 (By similarity)
Subcellular location: Cell membrane; Multi-pass membrane protein. Membrane; Multi-pass membrane protein. Note=Localized
at the plasma membrane and in a subset of intracellular vesicles. Localized at the presynaptic terminals of
interneurons (By similarity)
Miscellaneous: This protein is the target of psychomotor stimulants such as amphetamines or cocaine
Secondary accessions: Q8N4K8

Explore the universe of human proteins at neXtProt for SLC6A1: NX_P30531

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P30531

    • SLC6A1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_003033.3  
    ENSEMBL proteins: 
     ENSP00000287766   ENSP00000411689   ENSP00000445171  
    Reactome Protein details: P30531
    Human Recombinant Protein Products: 
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    Novus Biologicals SLC6A1 Lysate
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    Browse Proteins at Uscn

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005624membrane fraction ----
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane IEA--
    GO:0009986cell surface IEA--
    GO:0016020membrane TAS2387399


    SLC6A1 for ontologies           About GeneDecksing



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    Assay Products for SLC6A1: 
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    Browse ELISAs and CLIAs at Uscn

    Protein Domains /
    Families
    for SLC6A1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SLC6A1 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR000175 Na/ntran_symport
     IPR002980 Na/ntran_symport_GABA_GAT1

    Graphical View of Domain Structure for InterPro Entry P30531

    ProtoNet protein and cluster: P30531

    1 Blocks protein family: IPB002980 GAT-1 GABA neurotransmitter transporter signature

    UniProtKB/Swiss-Prot: SC6A1_HUMAN, P30531
    Domain: The PDZ domain-binding motif is involved in the interaction with MPP5
    Similarity: Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A1 subfamily


    Function
    for SLC6A1 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: SC6A1_HUMAN, P30531
    Function: Terminates the action of GABA by its high affinity sodium-dependent reuptake into presynaptic terminals

         Genatlas biochemistry entry for SLC6A1:
    solute carrier family 6,member A1,neurotransmitter transporter,GABA,see COLOT1

    miRNA
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    hsa-miR-579 hsa-miR-376b hsa-miR-938 hsa-miR-128 hsa-miR-3613-3p hsa-miR-200b hsa-miR-192* hsa-miR-92b
    SwitchGear 3'UTR luciferase reporter plasmid: SLC6A1 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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    In Situ Assay
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005328neurotransmitter:sodium symporter activity IEA--
    GO:0005332gamma-aminobutyric acid:sodium symporter activity IEA--
    GO:0005515protein binding ----


    SLC6A1 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Slc6a1tm1Nfms for SLC6A1
         5 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Slc6a1):
     behavior/neurological  growth/size  nervous system  normal  taste/olfaction 

    SLC6A1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for SLC6A1 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 - 5/8 super-pathways (see all 8) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1SLC-mediated transmembrane transport
    		SLC-mediated transmembrane transport1.00
    		Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds0.38
    		Transmembrane transport of small molecules0.50
    2GABA synthesis, release, reuptake and degradation
    		GABA synthesis, release, reuptake and degradation1.00
    		Neurotransmitter Release Cycle0.53
    3Transmission across Chemical Synapses
    		Transmission across Chemical Synapses1.00
    		Neuronal System0.67
    4Amine compound SLC transporters
    		Amine compound SLC transporters1.00
    		Na+/Cl- dependent neurotransmitter transporters0.63
    5Reuptake of GABA
    		Reuptake of GABA1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for SLC6A1
        GABA signaling in brain


    1 BioSystems Pathway for SLC6A1 
        Monoamine Transport

    5/10        Reactome Pathways for SLC6A1 (see all 10)
        Transmission across Chemical Synapses
    GABA synthesis, release, reuptake and degradation
    Na+/Cl- dependent neurotransmitter transporters
    Amine compound SLC transporters
    Neurotransmitter Release Cycle

    1 PharmGKB Pathway for SLC6A1
        Benzodiazepine Pathway, Pharmacodynamics


    SLC6A1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SLC6A1

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for SLC6A1 (P305313 ENSP000002877664) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    STX1AQ166233, ENSP000002228124I2D: score=2 STRING: ENSP00000222812
    About this table

    Gene Ontology (GO): 5/19 biological process terms (GO ID links to tree view) (see all 19):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport NAS8530094
    GO:0007268synaptic transmission TAS--
    GO:0007269neurotransmitter secretion TAS--
    GO:0007612learning IEA--
    GO:0009636response to toxin IEA--


    SLC6A1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SLC6A1 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

    SLC6A1 for compounds           About GeneDecksing

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

    Compounds for SLC6A1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Riluzole hydrochlorideGlutamate release inhibitor/GABA uptake inhibitor[1744-22-5]
    NNC 711Selective inhibitor of GAT-1[145645-62-1]
    Tiagabine hydrochlorideGABA uptake inhibitor; anticonvulsant[145821-59-6]
    SKF 89976A hydrochloridePotent GABA uptake inhibitor. Penetrates blood brain barrier[85375-15-1]
    (S)-SNAP 5114GABA uptake inhibitor[157604-55-2]

    1 HMDB Compound for SLC6A1    About this table
    CompoundSynonyms CAS #PubMed Ids
    SodiumSodium (see all 2)7440-23-5--

    1 DrugBank Compound for SLC6A1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    TiagabineTiagabina [INN-Spanish] (see all 2)115103-54-3targetinhibitor16377242 16420077 18007567 20512624 11752352 17069932

    10/15 Novoseek chemical compound relationships for SLC6A1 gene (see all 15)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gaba 87.8 177 9623887 (3), 12526990 (3), 9116226 (3), 10197772 (3) (see all 78)
    tiagabine 84.2 13 15451399 (2), 9674039 (1), 19393020 (1), 8939442 (1) (see all 9)
    sk&f-89976a 79.8 1 10373701 (1)
    nipecotic acid 72.5 1 11520322 (1)
    glutamate 42.4 10 11744314 (2), 12526990 (1), 19294962 (1), 15269970 (1) (see all 6)
    sodium 33.9 2 7479969 (1), 19201752 (1)
    betaine 30.9 1 9045687 (1)
    chloride 23.9 1 7479969 (1)
    dopamine 22.7 3 17210573 (1), 11750035 (1), 12351264 (1)
    haloperidol 20.5 1 15467974 (1)

    Search CenterWatch for drugs/clinical trials and news about SLC6A1 / SC6A1 

    Transcripts
    for SLC6A1 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 SLC6A1 gene: 
    NM_003042.3  

    Unigene Cluster for SLC6A1:

    Solute carrier family 6 (neurotransmitter transporter, GABA), member 1
    Hs.443874  [show with all ESTs]
    Unigene Representative Sequence: NM_003042
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000287766(uc010hdq.3) ENST00000425938 ENST00000462473 ENST00000460480
    ENST00000495636 ENST00000536032

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    hsa-miR-579 hsa-miR-376b hsa-miR-938 hsa-miR-128 hsa-miR-3613-3p hsa-miR-200b hsa-miR-192* hsa-miR-92b
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    Inhib. RNA
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    Additional cDNA sequence: 

    AK090958.1 AK295702.1 BC033904.1 BC057291.1 X54673.1 

    5 DOTS entries:

    DT.91710327  DT.102822043  DT.100752409  DT.95266752  DT.99998044 

    24/82 AceView cDNA sequences (see all 82):

    BG059905 AL138189 BX099972 F02829 BX952118 R96402 F03388 AV654804 
    H19539 H38688 CA414784 AI570251 AW131573 BM809058 BF347587 AI078427 
    AW339119 CK005757 AI368458 AW957131 BC057291 H19464 AW298138 BF531029 

    GeneLoc Exon Structure


    Expression
    for SLC6A1 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

    SLC6A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTCCCACTTC

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

    SLC6A1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    7 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainBlood Brain BarrierPostnatal Endothelial CellsBlood Brain Barrier, Endothelium
    Neural TubeNeural TubeSpinal Neural Tube CellsNeural Ectoderm
    AdiposeVisceral White AdiposeAdipose
    BoneZeugopod Growth PlateBone
    BrainCerebral CortexBrain
    EyeRetinaEye
    Spinal CordPresumptive Spinal CordSpinal Cord
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See SLC6A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC6A1

    SOURCE GeneReport for Unigene cluster: Hs.443874
        SABiosciences Expression via Pathway-Focused PCR Array including SLC6A1: 
              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 SLC6A1

    Orthologs
    for SLC6A1 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 common ancestor of animals.

    Orthologs for SLC6A1 gene from 5/19 species (see all 19)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves SLC6A11 solute carrier family 6 (neurotransmitter transporter, GABA), member 1 less 78.82(n)
    93.31(a)    		   415960  XM_414303.2  XP_414303.1 
    lizard
    (Anolis carolinensis)    		 Reptilia SLC6A16
    		 --
    		 91(a)
    		 1 ↔ 1
    		 2(157563050-157608657)
    zebrafish
    (Danio rerio)    		 Actinopterygii 570760642   -- 78.24(n)    57076064 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG17321 , 3 GABA:sodium symporter3
    CG17321    		 59(a)
    (best of 9)3
    58.41(n)1
    59.47(a)1    		   102C23
    438051  NM_143673.21  NP_651930.21 
    worm
    (Caenorhabditis elegans)    		 Secernentea snf-111 , 3 Na(+)/Cl(-)-dependent GABA transporter3
    Protein SNF-111    		 50(a)
    (best of 9)3
    56.75(n)1
    55.27(a)1    		   V(11307950-11311658)3
    1917701  NM_073472.41  NP_505873.21 


    ENSEMBL Gene Tree for SLC6A1 (if available)
    TreeFam Gene Tree for SLC6A1 (if available) 

    Paralogs
    for SLC6A1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC6A1 gene
    SLC6A62  SLC6A112  SLC6A122  SLC6A142  SLC6A52  SLC6A82  SLC6A32  SLC6A132  
    SLC6A42  SLC6A72  SLC6A22  SLC6A92  
    18 SIMAP similar genes for SLC6A1 using alignment to 3 protein entries:     SC6A1_HUMAN (see all proteins):
    SLC6A13    SLC6A6    SLC6A11    SLC6A12    SLC6A8    SLC6A4
    SLC6A7    SLC6A3    SLC6A5    SLC6A2    SLC6A9    SLC6A14
    SLC6A15    SLC6A18    SLC6A19    SLC6A20    DKFZp761I0921    SLC6A17

    SLC6A1 for paralogs           About GeneDecksing



    Genomic Variants
    for SLC6A1 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

    10/985 NCBI SNPs in SLC6A1 are shown (see all 985)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 3 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs14001541,2
    		C,F,A,--11032556(-) GGGACA/GTGTGA 1 -- us2k112Minor allele frequency- G:0.25NA WA CSA EA 374
    rs1468001371,2
    		--11032694(+) ATTGAC/GGTTCT 1 -- us2k10--------
    rs17108731,2
    		C,F,H,--11032829(-) GAACTG/CAGGTC 1 -- us2k129Minor allele frequency- C:0.48NS EA NA WA CSA 2777
    rs1395971421,2
    		--11032950(+) GGTTTA/GTGCGG 1 -- us2k10--------
    rs1443309861,2
    		--11032954(+) TGTGCA/GGTTAT 1 -- us2k10--------
    rs17288181,2
    		C,F,A,H,--11032992(-) GTGATG/CCCAGT 1 -- us2k119Minor allele frequency- C:0.45EA NA NS WA CSA 837
    rs1857092271,2
    		--11033101(+) CCAACA/GGAAGT 1 -- us2k10--------
    rs790018191,2
    		F,--11033133(+) GATCAG/ATGGTG 1 -- us2k11Minor allele frequency- A:0.02EA 120
    rs1509747341,2
    		--11033195(+) GTGTGA/GGGAAA 1 -- us2k10--------
    rs120192311,2
    		--11033247(+) GACTCG/CAGGAT 1 -- us2k13Minor allele frequency- C:0.12NA WA 122

    HapMap Linkage Disequilibrium report for SLC6A1 (11034410 - 11080935 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SLC6A1: --
    Human Gene Mutation Database (HGMD): SLC6A1

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    Disorders / Diseases
    for SLC6A1 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
    SLC6A1 for disorders           About GeneDecksing

    OMIM gene information: 137165    OMIM disorders: --

    16 diseases for SLC6A1:    About MalaCards
    female stress incontinence    attention deficit hyperactivity disorder    schizophrenia    temporal lobe epilepsy
    autism spectrum disorder    neuronitis    anxiety disorder    insomnia
    ganglioglioma    adhd    glaucoma    alzheimer's disease
    seizures    neuropathy    cerebritis    alcoholism

    3 diseases from the University of Copenhagen DISEASES database for SLC6A1:
    Glaucoma     Schizophrenia     Female stress incontinence

    4 Novoseek disease relationships for SLC6A1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    epilepsy 42.2 2 12699773 (1), 17267178 (1)
    schizophrenia 37.8 6 11803235 (2), 12526990 (1), 10553733 (1), 18923069 (1) (see all 5)
    sclerosis 31.6 1 11744314 (1)
    psychiatric disorder 4.64 1 12167498 (1)

    Human Genome Epidemiology (HuGE) Navigator: SLC6A1 (7 documents)

    Export disorders for SLC6A1 gene to outside databases

    Publications
    for SLC6A1 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 SLC6A1 gene, integrated from 9 sources (see all 145):
    (articles sorted by number of sources associating them with SLC6A1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Assignment of the human GABA transporter gene (GABATHG) locus to chromosome 3p24-p25. (PubMed id 8530094)1, 3 Huang F....Guo L.H. (1995)
    2. Cloning of the human brain GABA transporter. (PubMed id 2387399)1, 2 Nelson H.... Nelson N. (1990)
    3. Neuronal and glial localization of GAT-1, a high-affinity gamma-aminobutyric acid plasma membrane transporter, in human cerebral cortex: with a note on its distribution in monkey cortex. (PubMed id 9623887)1, 9 Conti F....Ducati A. (1998)
    4. Turnover rate of the gamma-aminobutyric acid transporter GAT1. (PubMed id 17994179)1, 9 Gonzales A.L....Eskandari S. (2007)
    5. Concentrative export from the endoplasmic reticulum of the gamma-aminobutyric acid transporter 1 requires binding to SEC24D. (PubMed id 17210573)1, 9 Farhan H....Sitte H.H. (2007)
    6. Localization of calcium-binding proteins and GABA transporter (GAT-1) messenger RNA in the human subthalamic nucleus. (PubMed id 10197772)1, 9 Augood S.J....Emson P.C. (1999)
    7. Development of GABAergic neurons and their transporter in human temporal cortex. (PubMed id 11744314)1, 9 Hachiya Y. and Takashima S. (2001)
    8. Chandelier cell axons are immunoreactive for GAT-1 in the human neocortex. (PubMed id 9512391)1, 9 DeFelipe J. and Gonzalez-Albo M.C. (1998)
    9. Twenty-one-base-pair insertion polymorphism creates an enhancer element and potentiates SLC6A1 GABA transporter promoter activity. (PubMed id 19077666)1, 9 Hirunsatit R....Simen A.A. (2009)
    10. Peptide-based interactions with calnexin target misassembled membrane proteins into endoplasmic reticulum-derived multilamellar bodies. (PubMed id 18367207)1, 9 Korkhov V.M....Sitte H.H. (2008)

    External Searches for SLC6A1 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 SLC6A1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6529 HGNC: 11042 AceView: SLC6A1 Ensembl:ENSG00000157103 euGenes: HUgn6529
    ECgene: SLC6A1 H-InvDB: SLC6A1

    Other Databases showing SLC6A1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SLC6A1 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 SLC6A1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for SLC6A1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for SLC6A1 gene:
    Search GeneIP for patents involving SLC6A1

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



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    About This Section

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