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FLASH GENE
Symbol SLC7A9 contributors: mct/npt - updated : 20-04-2010
HGNC name solute carrier family 7 (cationic amino acid transporter, y+ system), member 9
HGNC id 11067
Corresponding disease
CSNU3 cystinuria-lysinuria, type 3
Location 19q13.11      Physical location : 33.321.420 - 33.360.683
Synonym name
  • glycoprotein-associated amino acid transporter b0,+AT1
  • B(0,+)-type amino acid transporter 1
    • Synonym symbol(s) CSNU3, BAT1, FLJ94301, B(0,+)AT
    DNA
    TYPE functioning gene
    STRUCTURE 39.27 kb     13 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 1703 - 487 - Bisceglia (2010)
    9 - 1789 - 487 - Bisceglia (2010)
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine  moderately
     liver   lowly
    Reproductivemale systemprostate  lowly
    Urinarykidney   specific
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • twelve transmembrane segments (12TM)
  • cytoplasmic N and C termini
    • mono polymer heteromer , dimer
    HOMOLOGY
    interspecies ortholog to rattus Slc7a9 (87.2pc)
    ortholog to murine Slc7a9 (86.9pc)
    Homologene
    FAMILY
  • solute carrier family 7, cationic amino-acid
  • amino acid-polyamine-organocation (APC) superfamily
    • CATEGORY signaling neurotransmitter , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    text apical membrane of proximal tubule
    basic FUNCTION
  • involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system b(0,+)-like activity)
  • being responsible for the high-affinity reabsorption of cystine in the kidney tubule
  • 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 (Mitsuoka 2009)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text L-cystine transporter
    PATHWAY
    metabolism aminoacid
    signaling
    a component
  • BO+AT subunit heterodimerizing with 2BAT (SLC3A1) (disulfide-linked)
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    activated by the tyrosine kinase inhibitor
    inhibited by the protein kinase A activator
    ASSOCIATED DISORDERS
    corresponding disease(s) CSNU3
    Susceptibility to chronic kidney disease
    Variant & Polymorphism other rs4805834 associated with chronic kidney disease (Chambers 2010)
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    Slc7a9-deficient mice (Feliubadalo, 2003)