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

SLC46A1 Gene

protein-coding   GIFtS: 56
GCID: GC17M026721

Solute Carrier Family 46 (Folate Transporter), Member 1

(Previous names: solute carrier family 46, member 1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Solute Carrier Family 46 (Folate Transporter), Member 11 2     G212 3
Heme Carrier Protein 11 2 3     Solute Carrier Family 46, Member 11
HCP12 3 5     PCFT/HCP13
PCFT2 3 5     Solute Carrier Family 46 Member 13
Proton-Coupled Folate Transporter1 2     

External Ids:    HGNC: 305211   Entrez Gene: 1132352   Ensembl: ENSG000000763517   OMIM: 6116725   UniProtKB: Q96NT53   

Export aliases for SLC46A1 gene to outside databases

Previous GC identifers: GC17M023753 GC17M022930


(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 SLC46A1 Gene:
This gene encodes a transmembrane proton-coupled folate transporter protein that facilitates the movement of
folate and antifolate substrates across cell membranes, optimally in acidic pH environments. This protein is also
expressed in the brain and choroid plexus where it transports folates into the central nervous system. This
protein further functions as a heme transporter in duodenal enterocytes, and potentially in other tissues like
liver and kidney. Its localization to the apical membrane or cytoplasm of intestinal cells is modulated by
dietary iron levels. Mutations in this gene are associated with autosomal recessive hereditary folate
malabsorption disease. Alternatively spliced transcript variants encoding different isoforms have been described
for this gene. (provided by RefSeq, Aug 2013)

GeneCards Summary for SLC46A1 Gene: 
SLC46A1 (solute carrier family 46 (folate transporter), member 1) is a protein-coding gene. Diseases associated with SLC46A1 include hereditary folate malabsorption, and choroiditis, and among its related super-pathways are Metabolism of water-soluble vitamins and cofactors and Transferrin endocytosis and recycling. GO annotations related to this gene include folic acid transporter activity and folic acid binding. An important paralog of this gene is SLC46A3.

UniProtKB/Swiss-Prot: PCFT_HUMAN, Q96NT5
Function: Has been shown to act both as an intestinal proton-coupled high-affinity folate transporter and as an
intestinal heme transporter which mediates heme uptake from the gut lumen into duodenal epithelial cells. The
iron is then released from heme and may be transported into the bloodstream. Dietary heme iron is an important
nutritional source of iron. Shows a higher affinity for folate than heme

Gene Wiki entry for SLC46A1 Gene


(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)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.2  NT_010799.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SLC46A1 gene promoter:
         E2F-4   E2F-3a   E2F   E2F-1   E2F-2   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC46A1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC46A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC46A1


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

Entrez Gene cytogenetic band: 17q11.2   Ensembl cytogenetic band:  17q11.2   HGNC cytogenetic band: 17q11.2

SLC46A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC46A1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M026721:  view genomic region     (about GC identifiers)

Start:
26,721,661 bp from pter      End:
26,734,215 bp from pter
Size:
12,555 bases      Orientation:
minus strand

(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: PCFT_HUMAN, Q96NT5 (See protein sequence)
Recommended Name: Proton-coupled folate transporter  
Size: 459 amino acids; 49771 Da
Subcellular location: Apical cell membrane; Multi-pass membrane protein. Cytoplasm (By similarity). Note=Localizes
to the apical membrane of intestinal cells in iron-deficient cells, while it resides in the cytoplasm in
iron-replete cells (By similarity)
Secondary accessions: Q1HE20 Q86T92 Q8TEG3 Q96FL0
Alternative splicing: 2 isoforms:  Q96NT5-1   Q96NT5-2   (Inactive isoform which results in impaired folate absorption, giving rise to hereditary folate malabsorption (HFM))

Explore the universe of human proteins at neXtProt for SLC46A1: NX_Q96NT5

Explore proteomics data for SLC46A1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96NT5

  • SLC46A1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SLC46A1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001229295.1  NP_542400.2  

    ENSEMBL proteins: 
     ENSP00000463339   ENSP00000464190   ENSP00000467416   ENSP00000462942   ENSP00000395653  
     ENSP00000318828  
    Reactome Protein details: Q96NT5
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    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ISS--
    GO:0005886plasma membrane TAS--
    GO:0016021integral to membrane IEA--
    GO:0016324apical plasma membrane IDA17475902

    SLC46A1 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: Proton-coupled folate transporter 
    SLC46 family of folate transporters

    4 InterPro protein domains:
     IPR005829 Sugar_transporter_CS
     IPR020846 MFS_dom
     IPR011701 MFS
     IPR016196 MFS_dom_general_subst_transpt

    Graphical View of Domain Structure for InterPro Entry Q96NT5

    ProtoNet protein and cluster: Q96NT5

    UniProtKB/Swiss-Prot: PCFT_HUMAN, Q96NT5
    Similarity: Belongs to the major facilitator superfamily. SLC46A family


    SLC46A1 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: PCFT_HUMAN, Q96NT5
    Function: Has been shown to act both as an intestinal proton-coupled high-affinity folate transporter and as an
    intestinal heme transporter which mediates heme uptake from the gut lumen into duodenal epithelial cells. The
    iron is then released from heme and may be transported into the bloodstream. Dietary heme iron is an important
    nutritional source of iron. Shows a higher affinity for folate than heme
    Biophysicochemical properties: Kinetic parameters: KM=1.3 uM for folic acid (at pH 5.5); KM=1.5 uM for folic acid
    (at pH 6.0); KM=2.7 uM for folic acid (at pH 6.5); KM=6.0 uM for folic acid (at pH 7.0); KM=56.2 uM for folic
    acid (at pH 7.5); pH dependence: Optimum pH is 4.0-5.5. Activity decreases above pH 5.5 and reaches negligible
    levels at neutral pH and above;

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity ----
    GO:0005542folic acid binding IEA--
    GO:0008517folic acid transporter activity IDA17129779
    GO:0015232heme transporter activity IEA--
    GO:0022857transmembrane transporter activity ----
         
    SLC46A1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SLC46A1:
     Decreased p24 protein expressi 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Slc46a1):
     homeostasis/metabolism 

    SLC46A1 for phenotypes           About GeneDecksing

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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 SLC46A1 About   (see all 8)                                                                                              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
    2Insulin receptor recycling
    Iron uptake and transport0.69
    3SLC-mediated transmembrane transport
    Transmembrane transport of small molecules0.50
    4Pravastatin Pathway, Pharmacokinetics
    Methotrexate Pathway, Pharmacokinetics0.47
    5Metabolism
    Metabolism0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5/6        Reactome Pathways for SLC46A1 (see all 6)
        Metabolism of folate and pterines
    Transmembrane transport of small molecules
    Metabolism
    Metabolism of vitamins and cofactors
    Iron uptake and transport

    1 PharmGKB Pathway for SLC46A1
        Methotrexate Pathway, Pharmacokinetics

    2         Kegg Pathways  (Kegg details for SLC46A1):
        Vitamin digestion and absorption
    Mineral absorption


    SLC46A1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SLC46A1

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for SLC46A1 (ENSP000003956534) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HMOX1ENSP000002161174STRING: ENSP00000216117
    HMOX2ENSP000002197004STRING: ENSP00000219700
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006766vitamin metabolic process TAS--
    GO:0006767water-soluble vitamin metabolic process TAS--
    GO:0006879cellular iron ion homeostasis TAS--
    GO:0015884folic acid transport IDA17129779
    GO:0015886heme transport ----

    SLC46A1 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
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for SLC46A1 (PCFT)

    2 HMDB Compounds for SLC46A1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--
    IronArmco iron (see all 19)7439-89-6--

    4 DrugBank Compounds for SLC46A1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Folic AcidFolate (see all 9)59-30-3transportersubstrate17616776 17475902
    Aminopterin4-amino-4-deoxypteroylglutamate (see all 13)54-62-6transporter--22653877
    MethotrexateAmethopterin (see all 12)59-05-2transportersubstrate inhibitor17475902
    SulfasalazineSulfasalazin (see all 2)599-79-1transporterinhibitor17475902

    4 IUPHAR Ligands for SLC46A1 (Proton-coupled folate transporter)    About this table 
    LigandTypeActionAffinityPubmed IDs
    sulfasalazine
    InhibitorInhibition4.217129779
    indomethacin
    InhibitorInhibition3.717129779
    [3H]folic acid
    NoneNone3.7--
    [3H]methotrexate
    NoneNone3.7--

    Search CenterWatch for drugs/clinical trials and news about SLC46A1 / PCFT

    (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 SLC46A1 gene (2 alternative transcripts): 
    NM_001242366.2  NM_080669.5  

    Unigene Cluster for SLC46A1:

    Solute carrier family 46 (folate transporter), member 1
    Hs.446689  [show with all ESTs]
    Unigene Representative Sequence: NM_080669
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000584729 ENST00000583295 ENST00000582735 ENST00000582345 ENST00000578217
    ENST00000582590(uc010wak.2) ENST00000584995 ENST00000584426 ENST00000581516
    ENST00000440501(uc002hbf.2 uc021ttr.1) ENST00000321666
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    Additional mRNA sequence: 

    AK054669.1 AK074161.1 AK097194.1 AK295883.1 AL832613.2 BC010691.1 BC022100.1 BC065365.1 

    12 DOTS entries:

    DT.95373041  DT.97778027  DT.95267696  DT.99968346  DT.120988281  DT.114583  DT.120988303  DT.100025808 
    DT.100782897  DT.100836747  DT.120988301  DT.95221573 

    24/89 AceView cDNA sequences (see all 89):

    BP350886 BM762406 BC022100 BC010691 BM701658 AI678912 BE044485 BQ070049 
    BM555101 BM661898 BU187437 BU738714 BC065365 BX336949 CA449554 BI819453 
    BG110047 AA338308 CB528904 AK097194 BX413088 BM795299 AK054669 BQ771859 

    GeneLoc Exon Structure


    (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

    SLC46A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SLC46A1 Expression
    About this image


    See SLC46A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC46A1

    SOURCE GeneReport for Unigene cluster: Hs.446689

    UniProtKB/Swiss-Prot: PCFT_HUMAN, Q96NT5
    Tissue specificity: Expressed in kidney, liver, placenta, small intestine, spleen, retina and retinal pigment
    epithelium. Lower levels found in colon and testis. Very low levels in brain, lung, stomach, heart and muscle. In
    intestine, expressed in duodenum with lower levels in jejunum, ileum, cecum, rectum and segments of the colon

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    In Situ
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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 SLC46A1 gene from 7/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc46a11 , 5 solute carrier family 46, member 11, 5 83.95(n)1
    87.15(a)1
      11 (46.74 cM)5
    524661  NM_026740.21  NP_081016.21 
     784656975 
    chicken
    (Gallus gallus)
    Aves SLC46A11 solute carrier family 46 (folate transporter), member more 65.04(n)
    59.11(a)
      417569  NM_001205066.1  NP_001191995.1 
    lizard
    (Anolis carolinensis)
    Reptilia SLC46A16
    Uncharacterized protein
    46(a)
    1 ↔ 1
    GL343470.1(548043-564855)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.152822 Xenopus laevis transcribed sequence with weak similarity more 74.19(n)    BJ029088.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc564002 hypothetical protein MGC56400 72.64(n)   393255  BC049421.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG303446
    CG425146
    (see all 8)
    --
    18(a)
    18(a)
    (see all 8)
    many ↔ many
    many ↔ many
    (see all 8)
    2R(5032754-5036017)
    3L(16484938-16489336)
    worm
    (Caenorhabditis elegans)
    Secernentea Y4C6B.56
    Y43F8A.56
    Protein Y43F8A.5
    21(a)
    17(a)
    many ↔ many
    many ↔ many
    IV(5319251-5325040)
    V(19384887-19390120)


    ENSEMBL Gene Tree for SLC46A1 (if available)
    TreeFam Gene Tree for SLC46A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC46A1 gene
    SLC46A32  SLC46A22  
    2 SIMAP similar genes for SLC46A1 using alignment to 6 protein entries:     PCFT_HUMAN (see all proteins):
    MFSD9    SLC46A3

    SLC46A1 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

    10/323 SNPs in SLC46A1 are shown (see all 323)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs803387741,2,4
    CHereditary folate malabsorption (HFM)4 pathogenic126787991(-) GTTCCC/GCTTCC 4 P R mis10--------
    rs803387731,2,4
    CHereditary folate malabsorption (HFM)4 pathogenic126789611(-) TCATCC/TGGGCT 3 R W mis1 int10--------
    rs803387721,2,4
    CHereditary folate malabsorption (HFM)4 pathogenic126792077(-) ACCAGC/GCTGCT 4 S R mis10--------
    rs803387711,2,4
    CHereditary folate malabsorption (HFM)4 pathogenic126792592(-) TGCTGC/GGTCGC 4 R G mis10--------
    rs803387701,2,4
    CHereditary folate malabsorption (HFM)4 pathogenic126792694(-) TGGGCA/C/TGCCGC 6 S R C mis10--------
    rs348792321,2
    C--22930382(+) AAAAAA/-TAGGT 2 -- ut312Minor allele frequency- -:0.25NA CSA 4
    rs30318721,2
    C--26724874(-) GGCGC-/AG    
       C
    /GCA
    CAGCT
    4 -- cds10--------
    rs58198441,2
    C--26727722(+) TGAAG-/AATGCC 4 T I fra1 spl31Minor allele frequency- A:0.00NA 2
    rs721562591,2
    C--26728054(+) AAAAG-/AAAAAA 2 -- int10--------
    rs1922830481,2
    --26781518(+) TTTGTC/TAGATG 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for SLC46A1 (26721661 - 26734215 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for SLC46A1: --

    Human Gene Mutation Database (HGMD): SLC46A1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC46A1
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC46A1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 611672   
    OMIM disorders: 229050  
    UniProtKB/Swiss-Prot: PCFT_HUMAN, Q96NT5
  • Hereditary folate malabsorption (HFM) [MIM:229050]: Rare autosomal recessive disorder characterized by
    impaired intestinal folate absorption with folate deficiency resulting in anemia, hypoimmunoglobulinemia with
    recurrent infections, and recurrent or chronic diarrhea. In many patients, neurological abnormalities such as
    seizures or mental retardation become apparent during early childhood, attributed to impaired transport of
    folates into the central nervous system. When diagnosed early, the disorder can be treated by administration of
    folate. If untreated, it can be fatal and, if treatment is delayed, the neurological defects can become
    permanent. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 11 diseases for SLC46A1:    About MalaCards
    hereditary folate malabsorption    choroiditis    folic acid deficiency anemia    duodenitis
    megaloblastic anemia    hemochromatosis    anemia    diarrhea
    mental retardation    retinitis    leukemia

    3 diseases from the University of Copenhagen DISEASES database for SLC46A1:
    Folic acid deficiency anemia     biotin-responsive basal ganglia disease     Megaloblastic anemia

    SLC46A1 for disorders           About GeneDecksing

    GeneTests: SLC46A1
    GeneReviews: SLC46A1
    Genetic Association Database (GAD): SLC46A1
    Human Genome Epidemiology (HuGE) Navigator: SLC46A1 (7 documents)

    Export disorders for SLC46A1 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 SLC46A1 gene, integrated from 9 sources (see all 64):
    (articles sorted by number of sources associating them with SLC46A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of an intestinal heme transporter. (PubMed id 16143108)1, 2, 3, 9 Shayeghi M.... McKie A.T. (2005)
    2. Functional characterization of human proton-coupled folate transporter/heme carrier protein 1 heterologously expressed in mammalian cells as a folate transporter. (PubMed id 17475902)1, 2, 7 Nakai Y.... Yuasa H. (2007)
    3. Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption. (PubMed id 17129779)1, 2, 3 Qiu A....Goldman I.D. (2006)
    4. Heme carrier protein 1 (HCP1) genetic variants in the Hemochromatosis and Iron Overload Screening (HEIRS) Study participants. (PubMed id 19176287)1, 4, 9 Wang X....Eckfeldt J.H. (2009)
    5. Heme carrier protein 1 (HCP1) expression and functional analysis in the retina and retinal pigment epithelium. (PubMed id 17335806)1, 2, 9 Sharma S.... Della N.G. (2007)
    6. Identification of novel mutations in the proton-coupl ed folate transporter (PCFT-SLC46A1) associated with hereditary folate malabsor ption. (PubMed id 21333572)1, 2 Shin D.S....Goldman I.D. (2011)
    7. Functional roles of aspartate residues of the proton- coupled folate transporter (PCFT-SLC46A1); a D156Y mutation causing hereditary folate malabsorption. (PubMed id 20805364)1, 2 Shin D.S....Goldman I.D. (2010)
    8. Properties of the Arg376 residue of the proton-couple d folate transporter (PCFT-SLC46A1) and a glutamine mutant causing hereditary f olate malabsorption. (PubMed id 20686069)1, 2 Mahadeo K....Goldman I.D. (2010)
    9. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    10. Associations between single nucleotide polymorphisms in folate uptake and metabolizing genes with blood folate, homocysteine, and DNA uracil concentrations. (PubMed id 18842806)1, 4 DeVos L....Crott J.W. (2008)

    (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: 113235 HGNC: 30521 AceView: MGC9564 Ensembl:ENSG00000076351 euGenes: HUgn113235
    ECgene: SLC46A1 Kegg: 113235 H-InvDB: SLC46A1

    (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 SLC46A1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SLC46A1 gene:
    Search GeneIP for patents involving SLC46A1

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



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