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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SLC19A1 Gene

protein-coding   GIFtS: 66
GCID: GC21M046913

Solute Carrier Family 19 (Folate Transporter), Member 1

Alzheimer's & Parkinson's Diseases Congress
  See related diseases
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, 15RNAdb, and/or 11Nature:405,311-319 and CroW21)
About This Section

Aliases
Solute Carrier Family 19 (Folate Transporter), Member 11 2     RFC12 3
FOLT2 3 5     Human Reduced Folate Carrier (RFC)11
Intestinal Folate Carrier 12 3     CHMD2
Placental Folate Transporter2 3     IFC12
Reduced Folate Carrier Protein2 3     REFC2
Solute Carrier Family 19 Member 12 3     Folate Transporter 12
IFC-12 3     FLOT13
RFC2 3     

External Ids:    HGNC: 109371   Entrez Gene: 65732   Ensembl: ENSG000001736387   OMIM: 6004245   UniProtKB: P414403   

Export aliases for SLC19A1 gene to outside databases

Previous GC identifers: GC21M043444 GC21M045779 GC21M045790 GC21M045759 GC21M032311


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SLC19A1 Gene:
The membrane protein encoded by this gene is a transporter of folate and is involved in the regulation of
intracellular concentrations of folate. Three transcript variants encoding different isoforms have been found for
this gene.(provided by RefSeq, Mar 2011)

GeneCards Summary for SLC19A1 Gene: 
SLC19A1 (solute carrier family 19 (folate transporter), member 1) is a protein-coding gene. Diseases associated with SLC19A1 include choriocarcinoma, and thiamine-responsive megaloblastic anemia syndrome, and among its related super-pathways are Metabolism of water-soluble vitamins and cofactors and Pravastatin Pathway, Pharmacokinetics. GO annotations related to this gene include reduced folate carrier activity and folic acid binding. An important paralog of this gene is SLC19A3.

UniProtKB/Swiss-Prot: S19A1_HUMAN, P41440
Function: Transporter for the intake of folate. Uptake of folate in human placental choriocarcinoma cells occurs
by a novel mechanism called potocytosis which functionally couples three components, namely the folate receptor,
the folate transporter, and a V-type H(+)-pump

Gene Wiki entry for SLC19A1 Gene

PharmGKB "VIP" summary for SLC19A1


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
About This Section
RefSeq DNA sequence:
NC_000021.8  NT_011515.12  NC_018932.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SLC19A1 gene promoter:
         ATF-2   MyoD   FOXO3   FOXO3b   Roaz   HEN1   Pax-3   FOXO3a   ARP-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC19A1 promoter sequence

   Search SABiosciences Chromatin IP Primers for SLC19A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC19A1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 21q22.3   Ensembl cytogenetic band:  21q22.3   HGNC cytogenetic band: 21q22.3
Nature(405: 311-319) cytogenetic band:   21q22.3
SLC19A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC19A1 gene location
GeneLoc information about chromosome 21         GeneLoc Exon Structure

(about GC identifiers)
GC21M046913:   GeneLoc Nature:405,311-319
Start:
46,913,486 bp from pter       32,444,153 bp from centromere
End:
46,964,325 bp from pter 32,471,866 bp from centromere
Size:
50,840 bases 27,714 bases
Orientation:
minus strand minus strand

Whole chromosome sequencing:
cDNA sequence: U19720
genomic clones: P310E12 BAC-53I10


(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: S19A1_HUMAN, P41440 (See protein sequence)
Recommended Name: Folate transporter 1  
Size: 591 amino acids; 64868 Da
Subcellular location: Membrane; Multi-pass membrane protein
Secondary accessions: B2R7U8 B7Z8C3 E9PFY4 O00553 O60227 Q13026 Q9BTX8
Alternative splicing: 3 isoforms:  P41440-1   P41440-2   P41440-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SLC19A1: NX_P41440

Explore proteomics data for SLC19A1 at MOPED 

Post-translational modifications:

  • UniProtKB: Heavily glycosylated
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P41440

  • SLC19A1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SLC19A1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001192135.1  NP_001192136.1  NP_919231.1  

    ENSEMBL proteins: 
     ENSP00000393988   ENSP00000457278   ENSP00000308895   ENSP00000369347   ENSP00000401850  
     ENSP00000411345   ENSP00000435780   ENSP00000441772  
    Reactome Protein details: P41440
    Human Recombinant Protein Products for SLC19A1: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane TAS7826387
    GO:0016020membrane TAS8276792

    SLC19A1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    SLC: Solute carriers

    IUPHAR Guide to PHARMACOLOGY protein family classification: Folate transporter 1 
    SLC19 family of vitamin transporters

    2 InterPro protein domains:
     IPR002666 Folate_carrier
     IPR016196 MFS_dom_general_subst_transpt

    Graphical View of Domain Structure for InterPro Entry P41440

    ProtoNet protein and cluster: P41440

    1 Blocks protein domain: IPB002666 Reduced folate carrier

    UniProtKB/Swiss-Prot: S19A1_HUMAN, P41440
    Similarity: Belongs to the reduced folate carrier (RFC) transporter (TC 2.A.48) family


    SLC19A1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: S19A1_HUMAN, P41440
    Function: Transporter for the intake of folate. Uptake of folate in human placental choriocarcinoma cells occurs
    by a novel mechanism called potocytosis which functionally couples three components, namely the folate receptor,
    the folate transporter, and a V-type H(+)-pump

         Genatlas biochemistry entry for SLC19A1:
    solute carrier family 19,member A1,folate transporter,expressed in placenta,testis,with two alternative non coding
    exons

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005542folic acid binding IEA--
    GO:0008517folic acid transporter activity TAS7826387
    GO:0008518reduced folate carrier activity IEA--
    GO:0015350methotrexate transporter activity TAS8276792
    GO:0016491oxidoreductase activity ----
         
    SLC19A1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SLC19A1:
     High actin ratio cells 

         13 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Slc19a1):
     cellular  digestive/alimentary  embryogenesis  endocrine/exocrine gland  growth/size 
     hematopoietic system  homeostasis/metabolism  immune system  integument  liver/biliary system 
     mortality/aging  renal/urinary system  reproductive system 

    SLC19A1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for SLC19A1: Slc19a1tm1Rsc Slc19a1tm1Gold

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SLC19A1 
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    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SLC19A1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Metabolism of vitamins and cofactors
    Metabolism of water-soluble vitamins and cofactors1.00
    Metabolism of vitamins and cofactors1.00
    2Pravastatin Pathway, Pharmacokinetics
    Methotrexate Pathway, Pharmacokinetics0.47
    3Metabolism
    Metabolism0.40
    4glycine biosynthesis I
    Metabolism of folate and pterines0.30
    5Vitamin digestion and absorption
    Vitamin digestion and absorption

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4        Reactome Pathways for SLC19A1
        Metabolism of folate and pterines
    Metabolism
    Metabolism of vitamins and cofactors
    Metabolism of water-soluble vitamins and cofactors

    1 PharmGKB Pathway for SLC19A1
        Methotrexate Pathway, Pharmacokinetics

    1         Kegg Pathway  (Kegg details for SLC19A1):
        Vitamin digestion and absorption


    SLC19A1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SLC19A1

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for SLC19A1 (ENSP000003088954) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006766vitamin metabolic process TAS--
    GO:0006767water-soluble vitamin metabolic process TAS--
    GO:0006810transport ----
    GO:0008152metabolic process ----
    GO:0015884folic acid transport TAS7826387

    SLC19A1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SLC19A1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SLC19A1 (S19A1)

    1 HMDB Compound for SLC19A1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Folic acidAcifolic (see all 37)59-30-3--

    2 IUPHAR Ligands for SLC19A1 (Folate transporter 1)    About this table 
    LigandTypeActionAffinityPubmed IDs
    [3H]folic acid
    NoneNone9525913
    [3H]methotrexate
    NoneNone9525913

    10/51 Novoseek inferred chemical compound relationships for SLC19A1 gene (see all 51)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    folate 94.9 1158 18499665 (8), 7713875 (6), 10651805 (6), 1429743 (5) (see all 99)
    pt523 93.5 28 16368880 (6), 10739874 (3), 10807943 (3), 15126375 (2) (see all 9)
    zd9331 92.6 19 9654109 (2), 9815766 (2), 14871988 (1), 8624289 (1) (see all 10)
    tomudex 92.5 24 7513935 (4), 15126375 (2), 10699949 (1), 7565626 (1) (see all 11)
    1843u89 89.5 5 7565626 (1), 8428362 (1), 10899164 (1), 12139489 (1)
    thymidylate 88.5 50 15457444 (2), 7796401 (2), 16284371 (2), 17439323 (2) (see all 30)
    trimetrexate 87.8 21 9212241 (4), 9479873 (1), 9500202 (1), 9116294 (1) (see all 5)
    methotrexate 87.6 441 9212241 (8), 11162445 (7), 9028333 (6), 7713875 (5) (see all 99)
    pt 430 87.4 1 17554792 (1)
    ag 337 86.9 1 9816165 (1)

    3 PharmGKB related drug/compound annotations for SLC19A1 gene    About this table
    Drug/compound PharmGKB Annotation
    leucovorinCA  
    mercaptopurineCA  
    methotrexateCA  

    Search CenterWatch for drugs/clinical trials and news about SLC19A1 / S19A1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SLC19A1 gene (4 alternative transcripts): 
    NM_001205206.1  NM_001205207.1  NM_194255.2  NM_003056.2  

    Unigene Clusters for SLC19A1:

    Solute carrier family 19 (folate transporter), member 1
    Hs.84190  [show with all ESTs], Hs.736903  [show with all ESTs]
    Unigene Representative Sequences: AB209069, BC023005
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000417954 ENST00000567670(uc010gpy.1) ENST00000461785 ENST00000468508
    ENST00000460174 ENST00000311124(uc011aft.2 uc002zhl.2 uc010gpz.2)
    ENST00000380010(uc002zhm.2) ENST00000477688 ENST00000427839 ENST00000443742
    ENST00000486303 ENST00000528477 ENST00000485649

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    Additional mRNA sequence: BC023005.1 

    16 DOTS entries:

    DT.444985  DT.100798478  DT.91912586  DT.447571  DT.92427546  DT.101972290  DT.121139582  DT.91698234 
    DT.100798480  DT.121139579  DT.100798477  DT.92427547  DT.100039627  DT.100798482  DT.92031014  DT.95150789 

    24/195 AceView cDNA sequences (see all 195):

    BG106854 AI660746 T28473 BE881571 AA913825 CA426982 AA743360 AI763165 
    CR602937 AI814596 AW298029 AI738703 AW137045 F02853 AI204685 R86040 
    AI858077 AA069352 NM_194255 BU680493 AI970756 AI074505 AA731506 AI076853 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for SLC19A1 (see all 9)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11
    SP1:                                                                                    
    SP2:                                                                          -         
    SP3:        -     -                 -     -                                             
    SP4:        -     -                 -     -                                             
    SP5:                                -     -                                             


    ECgene alternative splicing isoforms for SLC19A1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SLC19A1 expression in normal human tissues (normalized intensities)      SLC19A1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATACTGCACC
    SLC19A1 Expression
    About this image


    SLC19A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/23 selected tissues (see all 23) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Mature Choroid Plexus Cells Choroid Plexus
             Cerebral Cortex
             brain/midbrain   
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             neutrophils   
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Telencephalon
     
     Peripheral Nervous System (Nervous System)
             spinal/ganglion/dorsal root ganglion   
     
     Eye (Sensory Organs)
             Retina

    See SLC19A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC19A1

    SOURCE GeneReport for Unigene clusters: Hs.84190 Hs.736903

    UniProtKB/Swiss-Prot: S19A1_HUMAN, P41440
    Tissue specificity: Placenta, liver, and to a much smaller extent, in lung

        SABiosciences Expression via Pathway-Focused PCR Arrays including SLC19A1: 
              Lymphoma in human mouse rat
              Drug Transporters in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SLC19A1 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc19a11 , 5 solute carrier family 19 (folate transporter), member more1, 5 74.14(n)1
    68.69(a)1
      10 (39.72 cM)5
    205091  NM_031196.31  NP_112473.11 
     770322415 
    chicken
    (Gallus gallus)
    Aves SLC19A11 solute carrier family 19 (folate transporter), member more 71.76(n)
    65.16(a)
      424034  NM_001006513.1  NP_001006513.1 
    lizard
    (Anolis carolinensis)
    Reptilia SLC19A16
    Uncharacterized protein
    60(a)
    1 ↔ 1
    1(90367414-90393866)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003348311 folate transporter 1-like 62.49(n)
    63.61(a)
      100334831  XM_002662401.2  XP_002662447.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG65743 reduced folate carrier 34(a)
    (best of 3)
      86C7   --
    worm
    (Caenorhabditis elegans)
    Secernentea C06H2.43 folate transporter protein 29(a)
    (best of 2)
      V(11144094-11145462)   --


    ENSEMBL Gene Tree for SLC19A1 (if available)
    TreeFam Gene Tree for SLC19A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC19A1 gene
    SLC19A32  SLC19A22  
    2 SIMAP similar genes for SLC19A1 using alignment to 8 protein entries:     S19A1_HUMAN (see all proteins):
    SLC19A3    SLC19A2

    SLC19A1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/895 SNPs in SLC19A1 are shown (see all 895)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 21 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1434964641,2
    C--46934171(+) GCAGA-/CC/CCC
            
    CCCCC
    6 -- ds5001 cds10--------
    rs562042271,2
    C--46934173(+) AGACC-/C/CC/G
            
    CCCCC
    3 -- ds50010--------
    rs99175391,2
    C,F,H--46934240(+) GGCCCT/GGTCTG 3 -- ds500112Minor allele frequency- G:0.05NS EA NA WA 1314
    rs1457333731,2
    C--46934267(+) GACTCA/GGGCCA 3 -- ds50010--------
    rs1435960021,2
    C--46934406(+) CTCCG-/TGC   
       TGAGC
    TGCTG
    3 -- ds50010--------
    rs1489231201,2
    --46934436(+) GGGGCC/TGCTGA 3 -- ds50010--------
    rs28389551,2
    C,F,O,A--46934518(+) GGCCCC/TGCGTG 3 -- ds500113Minor allele frequency- T:0.49NA WA CSA EA 524
    rs1884509001,2
    --46934521(+) CCTGCA/GTGGGC 3 -- ds50010--------
    rs1383598501,2
    --46934602(+) AGGCCA/GGCCCT 3 -- ds50010--------
    rs1425577211,2
    C--46934628(+) CGCACA/GCTCAC 3 -- ds50010--------

    HapMap Linkage Disequilibrium report for SLC19A1 (46913486 - 46964325 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/31 variations for SLC19A1 (see all 31):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2723790CNV Deletion23290073
    esv2723792CNV Deletion23290073
    esv2723793CNV Deletion23290073
    esv2723789CNV Deletion23290073
    esv2723788CNV Deletion23290073
    esv2723791CNV Deletion23290073
    nsv3542CNV Insertion18451855
    esv1055733CNV Insertion17803354
    nsv516407CNV Loss19592680
    nsv459308CNV Loss19166990


    Human Gene Mutation Database (HGMD): SLC19A1
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600424    OMIM disorders: --

    20/64 diseases for SLC19A1 (see all 64):    About MalaCards
    choriocarcinoma    thiamine-responsive megaloblastic anemia syndrome    pediatric osteosarcoma    biotin-responsive basal ganglia disease
    basal ganglia disease    intraocular lymphoma    osteosarcoma    placental choriocarcinoma
    placental abruption    megaloblastic anemia    homocysteinemia    spina bifida
    omphalocele    cleft lip    neural tube defects    hyperhomocysteinemia
    childhood leukemia    congenital heart defect    lymphoblastic leukemia    cleft palate

    1 disease from the University of Copenhagen DISEASES database for SLC19A1:
    biotin-responsive basal ganglia disease

    SLC19A1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/35 Novoseek inferred disease relationships for SLC19A1 gene (see all 35)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    thiamine-responsive megaloblastic anemia syndrome 77.3 1 12435857 (1)
    folate deficiency 75 11 18499665 (2), 18629538 (1), 11525381 (1), 15248210 (1) (see all 6)
    neural tube defects 71.3 7 12673279 (1), 15231126 (1), 15639995 (1), 16343969 (1) (see all 6)
    lymphoblastic leukemia acute childhood 67.6 8 16428507 (2), 19340000 (1), 17092808 (1), 17255265 (1) (see all 7)
    leukemia l1210 58.3 7 7713875 (2), 9037255 (2), 8664315 (1), 8765468 (1)
    lymphoblastic leukemia acute 55.7 8 9654109 (1), 11705857 (1), 15297414 (1), 9748136 (1) (see all 7)
    leukemia 55.1 36 14770434 (3), 9500202 (2), 16368880 (2), 12519783 (2) (see all 22)
    osteosarcoma 44.8 36 12576457 (5), 14584080 (3), 17473184 (3), 19159907 (3) (see all 13)
    mesothelioma 43.9 3 16505119 (1), 12019370 (1)
    down syndrome 42.3 13 18414976 (2), 16115349 (1), 9748136 (1), 17702010 (1) (see all 10)

    Genetic Association Database (GAD): SLC19A1
    Human Genome Epidemiology (HuGE) Navigator: SLC19A1 (66 documents)

    Export disorders for SLC19A1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SLC19A1 gene, integrated from 9 sources (see all 410):
    (articles sorted by number of sources associating them with SLC19A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation of a gene encoding a human reduced folate carrier (RFC1) and analysis of its expression in transport-deficient, methotrexate- resistant human breast cancer cells. (PubMed id 7641195)1, 2, 9 Moscow J.A.... Cowan K.H. (1995)
    2. Transcription regulatory polymorphism -43T>C in the 5'-flanking region of SLC19A1 gene could affect rheumatoid arthritis patient response to methotrexate therapy. (PubMed id 17404734)1, 4, 9 Chatzikyriakidou A....Drosos A.A. (2007)
    3. Topological and functional analysis of the human reduced folate carrier by hemagglutinin epitope insertion. (PubMed id 10347183)1, 2, 9 Ferguson P.L. and Flintoff W.F. (1999)
    4. The SLC19A1 80G>A polymorphism is not associated w ith male infertility. (PubMed id 20233025)1, 4, 9 Kurzawski M....Drozdzik M. (2010)
    5. Reduced folate carrier gene G80A polymorphism is associated with an increased risk of gastroesophageal cancers in a Chinese population. (PubMed id 16962770)1, 4, 9 Wang L....Shen H. (2006)
    6. Polyglutamation of methotrexate with common polymorphisms in reduced folate carrier, aminoimidazole carboxamide ribonucleotide transformylase, and thymidylate synthase are associated with methotrexate effects in rheumatoid arthritis. (PubMed id 15457444)1, 4, 9 Dervieux T....Kremer J. (2004)
    7. Isolation of human cDNAs that restore methotrexate sensitivity and reduced folate carrier activity in methotrexate transport-defective Chinese hamster ovary cells. (PubMed id 7615551)1, 2, 9 Wong S.C.... Matherly L.H. (1995)
    8. Maternal periconceptional vitamin use, genetic variation of infant reduced folate carrier (A80G), and risk of spina bifida. (PubMed id 11857541)1, 4, 9 Shaw G.M....Finnell R.H. (2002)
    9. Genes involved with folate uptake and distribution an d their association with colorectal cancer risk. (PubMed id 20037791)1, 4, 9 Figueiredo J.C....Haile R.W. (2010)
    10. Contribution of common polymorphisms in reduced folate carrier and gamma-glutamylhydrolase to methotrexate polyglutamate levels in patients with rheumatoid arthritis. (PubMed id 15564880)1, 4, 9 Dervieux T....Furst D.E. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6573 HGNC: 10937 AceView: SLC19A1 Ensembl:ENSG00000173638 euGenes: HUgn6573
    ECgene: SLC19A1 Kegg: 6573 H-InvDB: SLC19A1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SLC19A1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SLC19A1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SLC19A1 gene:
    Search GeneIP for patents involving SLC19A1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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