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FLASH GENE
Symbol SLC24A5 contributors: mct/npt - updated : 10-09-2009
HGNC name solute carrier family 24, member 5
HGNC id 20611
Location 15q21.1      Physical location : 48.413.168 - 48.434.588
Synonym name
  • solute carrier family 24 (sodium/potassium/calcium exchanger), member 5
  • ion transporter JSX
  • Na(+)/K(+)/Ca(2+)-exchange protein 5
  • Synonym symbol(s) JSX, NCKX5, SHEP4, +Ca, +K, Na
    DNA
    TYPE functioning gene
    STRUCTURE 21.00 kb     9 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 1617 54.9 500 - Ginger (2008)
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvessel    
    Nervousbrainhindbrainmedulla oblongata highly
    Skin/Tegumentskin   highly
    Visualeyeretina   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier liningretinal pigment epithelium (RPE) highly
    Muscularsmoothvessel  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Visualcone photoreceptor
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text during ventral nerve cord development in the embryo and in larval imaginal disks, expressed in a dorsal-ventral pattern in the eye-antenne disk
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two large hydrophilic loops
  • two sets of transmembrane spanning segments (TMs)
  • the first large hydrophilic loop is located extracellularly at the N-terminus
  • the other is cytoplasmic and separates the two sets of TMs (Kinjo 2003)
  • HOMOLOGY
    interspecies homolog to murine F630045L20Rik
    Homologene
    FAMILY
  • sodium/potassium/calcium exchanger family
  • SLC24A subfamily
  • SLC24A subfamily
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,Golgi
    text partially localized to the trans-Golgi network of epidermal melanocytes
    basic FUNCTION
  • may be functioning in the removal and maintenance of calcium homeostasis during signaling in the adult and in signaling events during embryogenesis and patterning of imaginal disks
  • may have a key role in skin pigmentation possibly by participating to ion transport in melanosomes
  • probably transports one Ca2+ and one K+ in exchange for four Na+
  • playing a role in mediating agonist-stimulated [Ca2+]cyt and thereby vascular tone (Dong 2006)
  • directly regulating epidermal melanogenesis and natural skin color through its intracellular potassium-dependent exchanger activity
  • polytopic membrane protein that plays a critical role in Ca(2+) homeostasis in retinal rod and cone photoreceptors (Kinjo 2003)
  • probably play a particularly prominent role in regulating Ca2+ flux in environments which experience wide and frequent fluctuations in Na+ concentration (Lytton 2007)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
  • ion Ca2+
  • ion K+
  • ion Na+
  • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to natural skin color variation
    Variant & Polymorphism SNP non-synonymous single nucleotide polymorphism associated with natural skin color variation
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS