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SLC19A1 Gene

protein-coding   GIFtS: 67
GCID: GC21M046913

Solute Carrier Family 19 (Folate Transporter), Member 1

  See SLC19A1-related diseases
at  

(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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
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RefSeq DNA sequence at NCBI GenBank:
NC_000021.8  NT_011512.12  NC_018932.2  
Regulatory elements:
   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 Chromatin IP Primers for SLC19A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: S19A1_HUMAN, P41440 (See protein sequence)
Recommended Name: Folate transporter 1  
Size: 591 amino acids; 64868 Da
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: 

  • Heavily glycosylated1
  • Ubiquitination2 at Lys237, Lys479
  • Glycosylation2 at Asn58
  • Modification sites at PhosphoSitePlus

  • See SLC19A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

    SLC19A1 Human Recombinant Protein Products:

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

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

    3 InterPro protein domains:
     IPR028339 RFC
     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


    Find genes that share domains with SLC19A1           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005542folic acid binding IEA--
    GO:0008517folic acid transporter activity IEA--
    GO:0015350methotrexate transporter activity IEA--
    GO:0016491oxidoreductase activity ----
         
    Find genes that share ontologies with SLC19A1           About GenesLikeMe


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

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

    Find genes that share phenotypes with SLC19A1           About GenesLikeMe

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

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SLC19A1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SLC19A1
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    miRNA
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    miRTarBase miRNAs that target SLC19A1:
    hsa-mir-93-5p (MIRT048799), hsa-mir-484 (MIRT042257), hsa-mir-16-5p (MIRT051284), hsa-mir-125b-5p (MIRT045982)

    Block miRNA regulation of human, mouse, rat SLC19A1 using miScript Target Protectors
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC19A1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    S19A1_HUMAN, P41440: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane IEA--
    GO:0016020membrane TAS8276792

    Find genes that share ontologies with SLC19A1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for SLC19A1 About    
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Defective BTD causes biotidinase deficiency
    Defective BTD causes biotidinase deficiency1.00
    Metabolism of vitamins and cofactors1.00
    Defective AMN causes hereditary megaloblastic anemia 11.00
    Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC1.00
    Defective MMAA causes methylmalonic aciduria type cblA1.00
    Defective MUT causes methylmalonic aciduria mut type1.00
    Defective CD320 causes methylmalonic aciduria1.00
    Defects in cobalamin (B12) metabolism1.00
    2Methotrexate Pathway, Pharmacokinetics
    Methotrexate Pathway, Pharmacokinetics0.43
    3Metabolism
    Metabolism0.38
    4Vitamin digestion and absorption
    Vitamin digestion and absorption
    5Disease
    Disease


    Find genes that share SuperPaths with SLC19A1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for SLC19A1
        Insulin Receptor Pathway

    1 Reactome Pathway for SLC19A1
        Metabolism of folate and pterines

    1 PharmGKB Pathway for SLC19A1
        Methotrexate Pathway, Pharmacokinetics

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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SLC19A1: 
              Lymphoma in human mouse rat
              Drug Transporters in human mouse rat

    Interactions:

        GeneGlobe Interaction 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): Selected biological process terms (see all 8):    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

    Find genes that share ontologies with SLC19A1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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

    Selected 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)

    8 PharmGKB related drug/compound annotations for SLC19A1 gene    About this table
    Drug/compound PharmGKB Annotation
    carboplatinCA  
    cisplatinCA  
    fluorouracilCA  
    irinotecanCA  
    leucovorinCA  
    mercaptopurineCA  
    methotrexateCA  
    prednisoneCA  



    Find genes that share compounds with SLC19A1           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SLC19A1 gene (4 alternative transcripts): 
    NM_001205206.1  NM_001205207.1  NM_194255.2  NM_003056.2  

    Unigene Cluster for SLC19A1:

    Solute carrier family 19 (folate transporter), member 1
    Hs.84190  [show with all ESTs]
    Unigene Representative Sequence: AB209069
    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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      QuantiTect SYBR Green Assays in human, mouse, rat SLC19A1
      QuantiFast Probe-based Assays in human, mouse, rat SLC19A1

    Additional mRNA sequence: 

    AB209069.1 AF004354.1 AK127669.1 AK303168.1 AK307623.1 AK310797.1 AK313125.1 BC003068.2 
    BC128246.1 BC128247.1 S78996.1 U15939.1 U17566.1 U19720.1 

    12 DOTS entries:

    DT.444985  DT.100798478  DT.92427546  DT.101972290  DT.121139582  DT.91698234  DT.121139579  DT.100798477 
    DT.92427547  DT.100798482  DT.92031014  DT.95150789 

    Selected AceView cDNA sequences (see all 195):

    BG106854 NM_194255 T28473 BQ003811 AI814596 AA350512 AK127669 CA426982 
    R86040 F02853 AA743360 AI763165 AA470378 AW137045 AI074505 BE881571 
    AW298029 AI738703 AA731506 AI076853 AI970756 AA350511 AI660746 AI858077 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SLC19A1 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 9) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Adult Endothelial Cells Blood Brain Barrier
             Cerebral Cortex
     
     Epithelial Cells
             Mature Choroid Plexus Cells Choroid Plexus
     
     Endothelium (Cardiovascular System)
             Adult Endothelial Cells Blood Brain Barrier
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Telencephalon
     
     Kidney (Urinary System)
             Metanephros
    SLC19A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC19A1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.84190

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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SLC19A1: 
              Lymphoma 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)
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    This gene was present in the common ancestor of animals.

    Orthologs for SLC19A1 gene from Selected species (see all 14)    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 73.87(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)
    64.95(a)
      424034  NM_001006513.1  NP_001006513.1 
    lizard
    (Anolis carolinensis)
    Reptilia SLC19A16
    solute carrier family 19 (folate transporter), mem...
    61(a)
    1 ↔ 1
    1(90367414-90393866)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia slc19a11 solute carrier family 19 (folate transporter), member more 60.66(n)
    62.64(a)
      100487033  XM_002932010.2  XP_002932056.1 
    zebrafish
    (Danio rerio)
    Actinopterygii im:71440901 im:7144090 61.06(n)
    61.36(a)
      497434  XM_005166231.1  XP_005166288.1 
    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)
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    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

    Find genes that share paralogs with SLC19A1           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SLC19A1 (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) Selected 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
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC19A1
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC19A1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600424    OMIM disorders: --

    11 diseases for SLC19A1:    
    About MalaCards
    choriocarcinoma    thiamine-responsive megaloblastic anemia syndrome    pediatric osteosarcoma    basal ganglia disease
    biotin-responsive basal ganglia disease    intraocular lymphoma    homocysteinemia    megaloblastic anemia
    osteosarcoma    neural tube defects    spina bifida

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

    Find genes that share disorders with SLC19A1           About GenesLikeMe

    Selected 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)
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    PubMed articles for SLC19A1 gene, integrated from 10 sources (see all 416):
    (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. (Cancer Res. 1995)
    2. Transcription regulatory polymorphism -43T&gt;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. (Rheumatol. Int. 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. (J. Biol. Chem. 1999)
    4. The SLC19A1 80G&gt;A polymorphism is not associated with male infertility. (PubMed id 20233025)1, 4, 9 Kurzawski M....Drozdzik M. (Biomarkers 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. (Eur. J. Cancer 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. (Arthritis Rheum. 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. (J. Biol. Chem. 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. (Am. J. Med. Genet. 2002)
    9. Genes involved with folate uptake and distribution and their association with colorectal cancer risk. (PubMed id 20037791)1, 4, 9 Figueiredo J.C....Haile R.W. (amp 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. (Pharmacogenetics 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 6573 HGNC: 10937 AceView: SLC19A1 Ensembl:ENSG00000173638 euGenes: HUgn6573
    ECgene: SLC19A1 Kegg: 6573 H-InvDB: SLC19A1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    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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