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FLASH GENE
Symbol SLC6A19 contributors: mct/npt/pgu - updated : 21-11-2012
HGNC name solute carrier family 6 (neurotransmitter transporter), member 19
HGNC id 27960
Corresponding disease
HND Hartnup disorder
Location 5p15.33      Physical location : 1.201.709 - 1.225.228
Synonym name
  • sodium-dependent amino acid transporter
  • system B0 neutral amino acid transporter
  • Hartnup disease
  • Synonym symbol(s) B0AT1, HND, FLJ20680, FLJ34635
    DNA
    TYPE functioning gene
    SPECIAL FEATURE gene in gene
    STRUCTURE 23.52 kb     12 Exon(s)
    regulatory sequence
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 5183 71 634 - 2011 21964291
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine    Homo sapiens
     liver    
     stomach    
    Reproductivefemale systemovary   
    Urinarykidneytubuleconvoluted tubule highly Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • twelve transmembrane domains
  • a conserved putative phosphorylation site for the serum and glucocorticoid inducible kinase isoforms SGK1/SGK3, kinases known to regulate a variety of channels and transporters
  • conjugated GlycoP
    HOMOLOGY
    interspecies ortholog to murine Slc6a19
    Homologene
    FAMILY
  • sodium : neurotransmitter symporter (SNF) family
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • mediating epithelial resorption of neutral amino acids across the apical membrane in the kidney and intestine
  • involved in the reabsorption of L-citrulline in the kidney, at least in part, by mediating the apical membrane transport of L-citrulline in renal tubule cells
  • plays a decisive role in transport of neutral amino acids in the kidney and intestine
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ACE2 is necessary for the expression of SLC6A19 transporter in intestine
  • SGK1, SGK2, SGK3 are novel potent stimulators of SLC6A19 and may thus participate in the regulation of neutral amino acid transport
  • SLC6A18, SLC6A19 associate with members of the renin-angiotensin system (RAS), namely TMEM27 and angiotensin-converting enzyme 2 (ACE2), in a tissue specific manner
  • interaction with ACE2 and TMEM27 (ACE2 is required for proper intestinal and TMEM27 for proper renal expression of SLC6A19)
  • cell & other
    REGULATION
    activated by JAK2 (up-regulates SLC6A19 activity which may foster amino acid uptake into JAK2 expressing cells)
    Other regulation of SLC6A19 by ACE2 and collectrin (TMEM27) (ACE2 and TMEM27 modify the sensitivity of SLC6A19 to regulation by kinases)
    ASSOCIATED DISORDERS
    corresponding disease(s) HND
    Susceptibility to arterial hypertension
    Variant & Polymorphism repeat minisatellites MS7 may be a risk factor for hypertension
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mice lacking Slc6a19 showed a reduced body weight