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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
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