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

SLC46A1 Gene

protein-coding   GIFtS: 54
GCID: GC17M026721

solute carrier family 46 (folate transporter), member 1

(Previous names: solute carrier family 46, member 1 )
 Explore 11 diseases affiliated with
SLC46A1 via our new
 Human Malady Compendium 
Biological research products
for SLC46A1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Solute Carrier Family 46 (Folate Transporter), Member 11 2     G212 3
HCP11 2 3 5     PCFT/HCP12 3
PCFT1 2 3 5     MGC95641
Heme Carrier Protein 12 3     Solute Carrier Family 46, Member 11
Solute Carrier Family 46 Member 12 3     Proton-Coupled Folate Transporter2

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:
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 (HFM) disease. HFM is characterized
by folate deficiency due to reduced intestinal folate absorption and subsequent anemia, hypoimmunoglobulinemia, and
recurrent infections. Alternatively spliced transcript variants encoding different isoforms have been described for
this gene. (provided by RefSeq, Jun 2011)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.1  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 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96NT5

  • SLC46A1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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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    Uscn Proteins for SLC46A1

    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 InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    SLC46A1 for domains           About GeneDecksing

    4 InterPro domains/families:
     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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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
    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;

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    Gene Ontology (GO): 4 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--


    SLC46A1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for SLC46A1:
     Decreased p24 protein expressi 

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

    SLC46A1 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/8 super-pathways (see all 8About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Vitamin B5 (pantothenate) metabolism
    Metabolism of vitamins and cofactors0.21
    Metabolism of water-soluble vitamins and cofactors0.21
    2Mineral absorption
    Mineral absorption1.00
    3Vitamin digestion and absorption
    Vitamin digestion and absorption1.00
    4Metabolism
    Metabolism1.00
    5Insulin receptor recycling
    Iron uptake and transport0.56

    Pathway sources
    See GeneCards unified pathways
    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, 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

    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--

    3 DrugBank Compounds for SLC46A1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Folic AcidFolate (see all 9)59-30-3transportersubstrate17616776 17475902
    MethotrexateAmethopterin (see all 12)59-05-2transportersubstrate inhibitor17475902
    SulfasalazineSulfasalazin (see all 2)599-79-1transporterinhibitor17475902

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

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SLC46A1 gene (2 alternative transcripts): 
    NM_001242366.1  NM_080669.4  

    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 cDNA 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):

    BE044485 BM762406 BC022100 AA338308 BC065365 CB528904 BU187437 AI678912 
    CA449554 BG110047 BM701658 AK097194 BX336949 BI819453 BM661898 BP350886 
    BU738714 BM555101 BQ070049 BC010691 BG766636 BF512929 BM553549 W32440 

    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
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene 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
    Assay Products:
     

     
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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 chordates.

    Orthologs for SLC46A1 gene from 4/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    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
    --
    53(a)
    1 ↔ 1
    GL343470.1(548164-552069)
    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 


    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, UniProtKB, 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

    10/102 NCBI SNPs in SLC46A1 are shown (see all 102    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs803387721,2
    Cpathogenic30272535(-) ACCAGC/GCTGCT 4 S R mis10--------
    rs803387731,2
    Cpathogenic30275001(-) TCATCC/TGGGCT 3 R W int1 mis10--------
    rs412971051,2
    C,--22937026(-) GGTTTG/TCTTTT 2 -- int15Minor allele frequency- T:0.00NS 372
    rs785372561,2
    C,F,--22937312(+) CAGACG/AGAAAA 2 -- int11Minor allele frequency- A:0.02WA 118
    rs1130937381,2
    F,--22937422(+) CAAGGT/CGGCAT 2 -- int13Minor allele frequency- C:0.13CSA WA 122
    rs412971031,2
    C,F,--22937471(-) GCCAAA/GACAAA 2 -- int16Minor allele frequency- G:0.01NS WA 498
    rs412971011,2
    C,F,--22937499(-) CCCCCC/TTCTCA 2 -- int15Minor allele frequency- T:0.02NS 380
    rs412970991,2
    C,--22937550(-) CTGCCC/TGAAAC 2 -- int15Minor allele frequency- T:0.00NS 380
    rs412970971,2
    C,F,--22937558(-) GTCCAG/CTGCTG 2 -- int16Minor allele frequency- C:0.05NS WA 498
    rs177199441,2
    C,F,H,--22937797(+) CAGGAA/GGAACT 2 -- int117Minor allele frequency- G:0.08NA NS EA 1348

    HapMap Linkage Disequilibrium report for SLC46A1 (26721661 - 26734215 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SLC46A1: --
    Human Gene Mutation Database (HGMD): SLC46A1

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    SLC46A1 for disorders           About GeneDecksing

    OMIM gene information: 611672   
    OMIM disorders: 229050  
    UniProtKB/Swiss-Prot: PCFT_HUMAN, Q96NT5
  • Defects in SLC46A1 are the cause of hereditary folate malabsorption (HFM) [MIM:229050]. HFM is a 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

    11 diseases for SLC46A1:    About MalaCards
    hereditary folate malabsorption    folic acid deficiency anemia    duodenitis    anemia
    iron overload    choroiditis    hemochromatosis    diarrhea
    homocysteine    retinitis    leukemia

    2 diseases from the University of Copenhagen DISEASES database for SLC46A1:
    Folic acid deficiency anemia     Megaloblastic anemia
    GeneTests: SLC46A1
    Hereditary Folate Malabsorption

    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 56):
    (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) expression and functional analysis in the retina and retinal pigment epithelium. (PubMed id 17335806)1, 2, 9 Sharma S.... Della N.G. (2007)
    5. 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)
    6. 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)
    7. 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)
    8. The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption. (PubMed id 17446347)1, 2 Zhao R.... Goldman I.D. (2007)
    9. Haem carrier protein 1 (HCP1): expression and functional studies in cultured cells. (PubMed id 17156779)1, 2 Latunde-Dada G.O.... McKie A.T. (2006)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)

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

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    OMIM
    NCBI Bookshelf
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    (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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