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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
Location 5q31.2      Physical location : 138.702.890 - 138.719.039
Synonym name
  • yolk sac permease-like molecule 2
  • solute carrier family 23 (nucleobase transporters), member 2
  • Na(+)/L-ascorbic acid transporter 1
  • Synonym symbol(s) NBTL, SVCT1, YSPL3, SLC23A2
    DNA
    TYPE functioning gene
    STRUCTURE 16.15 kb     14 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map cen - D5S1995 - APC - SLC23A2 - D5S436 - FBN2 - qter
    Authors Shalakis (00)
    Physical map
    GFRA3 5q31.1-q31.3 GDNF family receptor alpha 3 CDC25C 5q31 cell division cycle 25C C5orf6 5q31 chromosome 5 open reading frame 6 C5orf7 5q31 chromosome 5 open reading frame 7 LOC51308 5q31 SGC32445 protein EGR1 5q31.1 early growth response 1 ETF1 5q31.1 eukaryotic translation termination factor 1 HSPA9B 5q31.1 heat shock 70kDa protein 9B (mortalin-2) LOC391836 5 similar to ribosomal protein L10a CTNNA1 5q31.1 catenin (cadherin-associated protein), alpha 1, 102kDa LRRTM2 5q31.3 catenin (cadherin-associated protein), alpha 1, 102kDa SIL1 5q31 endoplasmic reticulum chaperone SIL1, homolog of yeast MATR3 5q31.1-q31.3 matrin 3 PAIP2 5q31.1-q31.3 matrin 3 SLC23A1 20p13 solute carrier family 23 (nucleobase transporters), member 1 PACAP 5q23-5q31 proapoptotic caspase adaptor protein LOC389333 5 LOC389333 LOC389334 5 LOC389334 LOC202051 5q31.3 hypothetical protein LOC202051 MGC29463 5q31.3 hypothetical protein MGC29463 LOC340061 5q31.3 hypothetical protein LOC340061 UBE2D2 5q31.3 ubiquitin-conjugating enzyme E2D 2 (UBC4/5 homolog, yeast) HSPC195 5q31.3 hypothetical protein HSPC195 DKFZp761B0514 5q31.3 hypothetical protein DKFZp761B0514 NRG2 5q23-q33 neuregulin 2 PURA 5q31 purine-rich element binding protein A ORF1-FL49 5q31.3 putative nuclear protein ORF1-FL49 PFDN1 5q31-q32 prefoldin 1 DTR 5q23-q31 diphtheria toxin receptor (heparin-binding epidermal growth factor-like growth factor) SLC4A9 5q31 solute carrier family 4, sodium bicarbonate cotransporter, member 9
    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