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FLASH GENE
Symbol SLC6A8 contributors: mct/pgu - updated : 13-06-2018
HGNC name solute carrier family 6 (neurotransmitter transporter, creatine), member 8
HGNC id 11055
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly Homo sapiens
Nervousbrainlimbic systemhippocampusdentate gyrushighly Homo sapiens
 brainforebraincerebral cortex highly Homo sapiens
Visualeyelens  highly Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal predominantly Homo sapiens
Nervouscentral  predominantly
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousastrocyte
Nervousneuron
Nervouspyramidal cell
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • twelve transmembrane segments
  • HOMOLOGY
    interspecies homolog to C.elegans T03F7.1
    homolog to murine Slc6a8
    Homologene
    FAMILY
  • sodium neurotransmitter symporter family
  • SLC6A8 subfamily
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
    text presence of a functional SLC6A8 in the axon terminal membrane that may serve to recapture the creatine released during the synapsis
    basic FUNCTION
  • Na+ (and Cl-) dependent plasma membrane transporter required for the uptake of creatine
  • playing an essential role in the storage and transmission of phosphate-bound energy
  • in most brain regions, may be transporting guanidinoacetate from GATM/GAMT-expressing cells to allow creatine synthesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with SGK1, SGK3 (increase SLC6A8 activity by increasing the maximal transport rate of the carrier)
  • Klotho protein up-regulates the activity of creatine transporter SLC6A8 by stabilizing the carrier protein in the cell membrane, an effect requiring beta-glucuronidase activity of KL protein
  • both, STK39 and OSR1, are negative regulators of the creatine transporter SLC6A8
  • cell & other
    REGULATION
    activated by FRAP1
    ASSOCIATED DISORDERS
    corresponding disease(s) CRTRD
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in astrocytes around the blood-brain barrier limits the brain capacity to import creatine from the periphery, and suggests that the CNS has to rely mainly on endogenous creatine synthesis through GATM/GAMT
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS