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FLASH GENE
Symbol SLC7A4 contributors: - updated : 31-08-2006
HGNC name solute carrier family 7 (cationic amino acid transporter, y+ system), member 4
HGNC id 11062
Location 22q11.21      Physical location : 21.383.007 - 21.386.847
Synonym name
  • Ig heavy chain variable region
  • VH 3 family gene
  • Synonym symbol(s) CAAT3, CAT-4, CTR4, HCAT3, MGC129976, MGC129977, VH
    DNA
    TYPE functioning gene
    STRUCTURE 3.00 kb     4 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    EXPRESSION
    Type restricted
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainhindbrainmedulla oblongata  
     braindiencephalonhypothalamus  
    Reproductivefemale systemplacenta   
     male systemtestis   
    Respiratorylung    
    Skin/Tegumentskin    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Skin/Tegumentmelanocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • 13 transmembrane-spanning domains,
  • 5 potential N-glycosylation sites,
  • two putative protein kinase C phosphorylation sites
  • HOMOLOGY
    Homologene
    FAMILY solute carrier family 7,cationic amino-acid
    CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION high affinity sodium independent, transporter of cationic aminoacids, but not sufficient to mediate alone in the plasma membrane the amino-acid transport
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism aminoacid
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    in velo-cardio-facial syndrome
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS