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FLASH GENE
Symbol SLC6A17 contributors: mct - updated : 21-03-2015
HGNC name solute carrier family 6, member 17
HGNC id 31399
Corresponding disease
MRT48 mental retardation, autosomal recessive 48
Location 1p13.3      Physical location : 110.693.131 - 110.744.821
Synonym name
  • solute carrier family 6 (neurotransmitter transporter), member 17
  • orphan sodium- and chloride-dependent neurotransmitter transporter NTT4
  • Synonym symbol(s) NTT4, XT1
    DNA
    TYPE functioning gene
    SPECIAL FEATURE arranged in tandem
    STRUCTURE 51.69 kb     12 Exon(s)
    regulatory sequence
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 6422 80.9 727 - 2005 16125675
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain   predominantly Homo sapiens
     brainforebraincerebral cortex highly Homo sapiens
     brainlimbic systemhippocampus highly Homo sapiens
    Reproductivefemale system    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    conjugated GlycoP , PhosphoP
    HOMOLOGY
    Homologene
    FAMILY
  • SLC6 family of structurally related, Na+-dependent transporter proteins
  • sodium:neurotransmitter symporter (SNF) family
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
    text
  • predominant localization of heterologously expressed NTT4/XT1 to intracellular membranes )
  • synaptic vesicles
  • expression specifically in glutamatergic and some GABAergic neurons
  • basic FUNCTION
  • neutral amino acid transporter with a substrate profile similar to SLC6A15
  • orphan transporter, Na(+)-dependent, Cl(-)-independent
  • functions as a selective transporter of four amino acids (proline, glycine, leucine, and alanine), as well as glutamate
  • synaptic vesicular transporter of neutral amino acids and glutamate, playing an important role in the regulation of glutamatergic synapses
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    Other transport inhibited by low pH
    ASSOCIATED DISORDERS
    corresponding disease(s) MRT48
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS