Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
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
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