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FLASH GENE
Symbol SLC19A1 contributors: - updated : 20-06-2006
HGNC name solute carrier family 19 (folate transporter), member 1
HGNC id 10937
Location 21q22.3      Physical location : 46.934.628 - 46.962.351
Synonym name
  • reduced folate carrier (RFC)
  • homologue of mutant Chinese hamster
  • cell methotrexate uptake deficiency
    • Synonym symbol(s) FOLT, RFC1, CHMD, IFC1, REFC
    DNA
    TYPE functioning gene
    SPECIAL FEATURE component of a cluster
    STRUCTURE 27.00 kb     5 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    alternative promoter
    cytosine-phosphate-guanine/HTF
    Binding site   transcription factor
    text structure
  • seven non-coding exons
  • A1/A2 promoter
  • regulated by unique cis -elements and transcription factors, including stimulating protein (Sp) 1 and Sp3 and the basic leucine zipper family of proteins
  • a highly GC-rich direct repeat element containing at least three putative SP1 and three putative MZF1 sites in promoter 2
  • transcription factor binding to three E-box elements and one GATA site
    • MAPPING cloned Y linked N status confirmed
    Map cen - PFKL PFKL - C21orf2 - SUMO3 - ITGB2 - ADARB1 - COL18A1 - SLC19A1 - COL6A1 - LSS - COL6A2 - PCNT2 - PRMT2 - qter
    Authors Lapenta (98)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - - 2700 - - - Prasad
    - - 630 - - K562 cells Zhang
    - - 990 - - K562 cells Zhang
    reverse transcription
    - splicing 2839 - 591 - Cao
    - splicing 3263 - 473 - Cao
    EXPRESSION
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticthymus   highly
    Digestiveintestinesmall intestine   
     liver    
    Nervousbrain    
    Reproductivemale systemtestis   
     male systemprostate   
    Respiratorylung   lowly
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Lymphoid    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymphoblast
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    		twelve transmembrane spanning segments (12TM)
    conjugated GlycoP
    HOMOLOGY
    interspecies homolog to murine Slc19a1
    homolog to Drosophila CG6574
    intraspecies homolog to C.elegans C50E3
    Homologene
    FAMILY solute carrier family 19, folate
    CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • playing a role in maintaining intracellular concentrations of folate
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to spina bifida and neural tube defect
    Variant & Polymorphism SNP
  • 80G>A in spina bifida
  • polymorphism 61bp in the promoter protective against neural tube defect
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS