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FLASH GENE
Symbol SLC6A1 contributors: mct - updated : 19-05-2015
HGNC name solute carrier family 6 (neurotransmitter transporter, GABA), member 1
HGNC id 11042
Corresponding disease
MAES myoclonic-astatic epilepsy syndrome
Location 3p25.3      Physical location : 11.034.419 - 11.080.934
Genatlas name see COLOT1
Synonym name gamma-aminobutyric acid transporter-1
Synonym symbol(s) GAT1, GABATHG, GABATR, GABT1, MCT1
DNA
TYPE functioning gene
STRUCTURE 46.52 kb     16 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Physical map
HCP10 3p25.3 cytochrome c, somatic pseudogene LOC389094 3 LOC389094 CICE 3p25.3 cell death-inducing CIDE-like effector pseudogene FANCD2 3p25.3 Fanconi anemia, complementation group D2 HCP11 3p25.3 cytochrome c, somatic pseudogene MGC40179 3p25.3 hypothetical protein MGC40179 MDS027 3p25.3 uncharacterized hematopoietic stem/progenitor cells protein MDS027 VHL 3p26-p25 von Hippel-Lindau syndrome IRAK2 3p25.3 interleukin-1 receptor-associated kinase 2 KIAA0218 3p25.3 interleukin-1 receptor-associated kinase 2 NAG73 3p26-p25 NPC-related protein NAG73 GHRL 3p26-p25 NPC-related protein NAG73 SEC13L1 3p25-p24 SEC13-like 1 (S. cerevisiae) ATP2B2 3p25-p24 ATPase, Ca++ transporting, plasma membrane 2 LOC389095 3 LOC389095 SLC6A11 3p25.2 solute carrier family 6 (neurotransmitter transporter, GABA), member 11 SLC6A1 3p25-p24 solute carrier family 6 (neurotransmitter transporter, GABA), member 1 LOC391509 3 similar to Drosophila melanogaster CG8797 gene product-related LOC391510 3 similar to FLJ31709 protein HRH1 3p25 histamine receptor H1 APG7L 3p25.3-3p24.1 APG7 autophagy 7-like (S. cerevisiae) KIAA0121 3p25.2 KIAA0121 gene product LOC132001 3p25.2 hypothetical protein BC015088 DKFZp434E0519 3p25.2 hypothetical protein DKFZp434E0519 HCP12 3p25.2 cytochrome c, somatic pseudogene
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
16 - 4494 - 599 - 1999 10197772
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrainmidbrain    Homo sapiens
Urinarybladder    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Nervousperipherous   
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousdopaminergic neuron Homo sapiens
Nervousneuron
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • 12 transmembrane segments (12TM)
  • cytoplasmic N and C termini
  • a motif in the C-terminus of GAT1 ((566)RL(567)), which is conserved in SLC6 family members, is a binding site for the COPII coat component SEC24D
  • HOMOLOGY
    Homologene
    FAMILY
  • solute carrier family 6, neurotransmitter GABA
  • neurotransmitter-sodium symporter (SNF) family
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • Na+ (and Cl-) dependent plasma membrane transporter of gamma-aminobutyric acid (GABA)
  • may contribute to determining GABA levels in the extracellular space
  • major regulator in maintaining a gamma-aminobutyric acid reservoir in the CNS, playing negative roles in experimental autoimmune encephalomyelitis pathogenesis
  • main plasma membrane GABA transporter in brain tissue, mediates translocation of GABA from the extracellular to the intracellular space
  • role of SLC6A1 in controlling GABBR1-mediated signaling is markedly different from its regulation of GABBR1-mediated fast synaptic transmission
  • mediates electrogenic transport of GABA together with sodium and chloride
  • functional interaction of the external and internal gates of SLC6A1 is essential for transport
  • plays a critical role in the regulation of rapid eye movement (REM) sleep and homeostasis of non-REM (NREM) sleep
  • sodium- and chloride-coupled GABA transporter and a member of the neurotransmitter:sodium:symporters, which are crucial for synaptic transmission
  • is one of the major gamma-aminobutyric acid (GABA) transporters in the brain and is responsible for re-uptake of GABA from the synapse
  • GABBR1, encoding the GABAB1 receptor subunit, and SLC6A1, encoding the neuronal gamma-aminobutyric acid (GABA) transporter GAT1, play a role in addiction by modulating synaptic GABA
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • negatively regulates T cell activation and survival through PRKCG-dependent signaling pathways
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MAES
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS