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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
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
14 - 2366 70 598 - Wang (1999)
14 splicing 2378 - 602 intestine Wang (1999)
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinesmall intestine  highly
 liver   highly Homo sapiensAdult
Reproductivemale systemprostate   
Urinarykidney   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Lymphoid    
cell lineage
cell lines
fluid/secretion
at STAGE
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