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FLASH GENE
Symbol SLC23A1 contributors: mct/npt - updated : 06-07-2010
HGNC name solute carrier family 23 (nucleobase transporters), member 1
HGNC id 10974
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • 11-14 transmembrane spanning segments
  • two potential N-linked glycosylation motifs
  • a conserved signaling motif
  • multiple potential phosphorylation sites
  • potential sites for N-glycosylation in its extracellular domains (Asn-138, Asn-144), essential for vitamin C transporter functionality (Subramanian 2008)
  • HOMOLOGY
    intraspecies paralog to SLC23A2
    Homologene
    FAMILY
  • xanthine/uracil permease family
  • SLC23A subfamily
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • role in transporting the dietary essential micronutrient ascorbic acid, the reduced and active form of vitamin C (Reidling 2008)
  • role as a possible intracellular transporter and N-glycosylation is potentially required for SLC23A1 membrane targeting (Velho 2009)
  • expressed mainly in epithelial tissues and is responsible for intestinal absorption and kidney reabsorption of ascorbic acid
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with HNF1a, HNF1B (HNF-1alpha and/or HNF-1beta binding is required for its expression and may be involved in the coordinate regulation of whole body vitamin C status) (Michels 2009)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to preterm delivery
    Variant & Polymorphism SNP increasing the risk for preterm delivery (Erichsen 2006)
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS