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FLASH GENE
Symbol SLC19A3 contributors: mct - updated : 21-12-2011
HGNC name solute carrier family 19, member 3
HGNC id 16266
Corresponding disease
BBGD biotin-responsive basal ganglia disease
Location 2q36.3      Physical location : 228.549.926 - 228.582.745
Synonym name
  • thiamine transporter 2
  • solute carrier family 19 (reduced folate transporter), member 3
    • Synonym symbol(s) THTR2
    DNA
    TYPE functioning gene
    STRUCTURE 32.82 kb     6 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    cytosine-phosphate-guanine/HTF
    text structure
  • putative cis-regulatory elements, with a critical role for a stimulating protein-1 (SP1)/GC-box binding site (at position -48/-45 bp)
    • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 3775 - 496 - 2004 15217784
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly
    Urinarykidney   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • twelve transmembrane spanning segments
  • cytoplasmic N and C termini
    • HOMOLOGY
    interspecies homolog to murine Slc19a3
    Homologene
    FAMILY
  • reduced folate family of micronutrient transporter genes
    • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • transporter for the intake of folate, reduced folate and methotrexate
  • may contribute to resistance to apoptosis in the tumors
  • uptake of thiamine was adaptively regulated by extracellular substrate level via transcriptionally mediated mechanisms that involve both SLC19A2 and SLC19A3
  • required for normal uptake of thiamin in the intestine and can fulfill normal levels of uptake in conditions associated with SLC19A2 dysfunction
    • CELLULAR PROCESS cell life, antiapoptosis
    PHYSIOLOGICAL PROCESS facilitated diffusion transport , active transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • biotin is not a substrate for SLC19A3
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) BBGD
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    promoter hypermethylation in gastric carcinoma
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • aberrant SLC19A3 promoter hypermethylation in plasma may be a novel biomarker for breast and gastric cancer diagnosis
  • methylation of SLC19A3 promoter could be a novel biomarker for early gastric cancer development
    • Therapy target
    ANIMAL & CELL MODELS
  • intestine of THTR-2-deficient mice had reduced uptake of thiamin compared with those of wild-type littermate mice