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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
Corresponding disease
CRTRD creatine deficiency syndrome
Location Xq28      Physical location : 152.953.751 - 152.962.048
Synonym name
  • sodium- and chloride-dependent creatine transporter 1
  • creatine transporter 1
  • Synonym symbol(s) CRTR, CTSP, CT1, CRTRD, MGC87396, CRT
    DNA
    TYPE functioning gene
    STRUCTURE 8.30 kb     13 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map see L1CAM
    Physical map
    LOC392559 X similar to hypothetical protein MGC15827 LOC139735 Xq28 similar to zinc finger protein 92 TREX2 Xq28 three prime repair exonuclease 2 LOC389904 X similar to Extracellular matrix protein 2 precursor (Matrix glycoprotein SC1/ECM2) BGN Xq28 biglycan ATP2B3 Xq28 ATPase, Ca++ transporting, plasma membrane 3 MGC29729 Xq28 hypothetical protein MGC29729 LOC340598 Xq28 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) DUSP9 Xq28 dual specificity phosphatase 9 LOC347544 Xq28 similar to ribosomal protein L18a; 60S ribosomal protein L18a MGC45419 Xq28 Similar to calcium/calmodulin-dependent protein kinase 1, beta SLC6A8 Xq28 solute carrier family 6 (neurotransmitter transporter, creatine), member 8 BCAP31 Xq28 solute carrier family 6 (neurotransmitter transporter, creatine), member 8 ABCD1 Xq28 ATP-binding cassette, sub-family D (ALD), member 1 PLXNB3 Xq28 plexin B3 STK23 Xq28 serine/threonine kinase 23 IDH3G Xq28 isocitrate dehydrogenase 3 (NAD+) gamma SSR4 Xq28 signal sequence receptor, delta (translocon-associated protein delta) KIAA1444 Xq28 LU1 protein HCP45 Xq28 cytochrome c, somatic pseudogene L1CAM Xq28 L1 cell adhesion molecule (hydrocephalus, stenosis of aqueduct of Sylvius 1, MASA (mental retardation, aphasia, shuffling gait and adducted thumbs) syndrome, spastic paraplegia 1) AVPR2 Xq28 arginine vasopressin receptor 2 (nephrogenic diabetes insipidus) ARHGAP4 Xq28 Rho GTPase activating protein 4 ARD1 Xq28 ARD1 homolog, N-acetyltransferase (S. cerevisiae) RENBP Xq28 renin binding protein HCFC1 Xq28 host cell factor C1 (VP16-accessory protein) CXorf12 Xq28 chromosome X open reading frame 12 IRAK1 Xq28 interleukin-1 receptor-associated kinase 1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 - 3580 70.5 635 - PMID: 16738945
    13 splicing 3550 - 625 - PMID: 18515020
    also known as SLC6A8B
    13 splicing 3129 58.3 520 predominantly found in human tissues with a high energy requirement such as brain, kidney, heart, small intestines and skeletal muscle PMID: 18515020
  • also known SLC6A8C
  • prediction of a truncated protein identical to the variant 1, comprising the five last C-terminal transmembrane domains
  • 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