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SLC46A1 Gene

protein-coding   GIFtS: 49

GC17M023753
solute carrier family 46 (folate transporter), member 1
(Previous names: solute carrier family 46, member 1 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
G21 3
HCP1 1, 2, 3, 5
MGC9564 1, 2
PCFT 1, 2, 3, 5
PCFT/HCP1 3
Descriptions
Heme carrier protein 1 2, 3
Solute carrier family 46 member 1 3
proton-coupled folate transporter 2
solute carrier family 46 (folate transporter), member 1 2
solute carrier family 46, member 1 1, 2
External Ids
HGNC: 305211
Entrez Gene: 1132352
UniProtKB: Q96NT53
Ensembl: ENSG000000763517
Search outside databases for aliases for SLC46A1 gene

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

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 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

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)

GeneLoc gene densities for chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M023753:     (about GC identifiers)

Start:
23,745,788 bp from pter
End:
23,757,355 bp from pter
Size:
11,568 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000017.9  NT_010799.14  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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   

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_542400.2  

    ENSEMBL proteins: 
    ENSP00000262401 ENSP00000318828 


    Human Recombinant Proteins 
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    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (HCP1)
    Browse Abnova for Human Recombinant Proteins
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    4 Gene Ontology (GO) cellular component terms (links to tree view):

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

    Antibodies for SLC46A1: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse Antibodies at Sigma-Aldrich
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (HCP1), each with their AbpromiseSM
    Browse Abnova for Monoclonal and Polyclonal Antibodies
    Search Novus for antibodies for SLC46A1

    Assays for SLC46A1: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

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

    1 InterPro domain/family:
     IPR011701 MFS_1


       GeneDecks  SLC46A1 for the domains selected above  
    About GeneDecksing

    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 MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (SLC46A1)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_080669

                  Applied Biosystems Silencer® siRNAs for SLC46A1

                  Sigma-Aldrich siRNA for SLC46A1  
                         Sigma-Aldrich shRNA for SLC46A1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for SLC46A1
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_080669
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_080669
                                     untagged cDNA clone in CMV expression vector: NM_080669 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_080669

    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;

    2 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005542 folic acid binding IEA--
    GO:0008517 folic acid transporter activity IDA17129779 17475902
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section



    3 Interacting proteins for SLC46A1 (ENSP000002624013) via UniProtKB, MINT, and/or STRING
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000188985ENSP000003430333STRING (score=.915)
    CENPFENSP000003559223STRING (score=.742)
    RFC1ENSP000003713213STRING (score=.7)
    About this table

    2 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810 transport IEA--
    GO:0015884 folic acid transport IDA17129779 17475902
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for SLC46A1

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (SLC46A1)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_080669

                  Sigma-Aldrich siRNA for SLC46A1  
                         Sigma-Aldrich shRNA for SLC46A1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_080669  

    REFSEQ mRNAs for SLC46A1 gene: 

    NM_080669.3   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_080669  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_080669
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_080669
                                     untagged cDNA clone in CMV expression vector: NM_080669 

    Additional cDNA sequence: 

    AK054669.1 AK074161.1 AK097194.1 AK295883.1 AL832613.2 BC010691.1 BC022100.1 BC065365.1 
    CR623769.1 

    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 ):

    BC065365 BM762406 AI678912 BI819453 BP350886 AK097194 BM701658 BG110047 
    BQ070049 BE044485 BX336949 AA338308 BU187437 BC010691 CA449554 BM661898 
    BU738714 BC022100 CB528904 BM555101 W32440 BX283782 BM999059 BG747462 

    Unigene Cluster for SLC46A1:

    Solute carrier family 46 (folate transporter), member 1
    Hs.446689  [show with all ESTs]
    Unigene Representative Sequence: NM_080669


    GeneLoc Exon Structure

    2 Ensembl transcripts including schematic representations:
    ENST00000262401  ENST00000321666  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    SLC46A1 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for SLC46A1

    1 / 2

    6 probe-sets matching SLC46A1 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    51553_at2 U95-B 1 1.00 1.00 1.00 1.00 -- -- -- -- --

    233531_at*2 U133-B 1 0.46 1.00 -- -- -- -- -- -- --

    1558703_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    1552278_a_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    1552279_a_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    233531_at*2 U133Plus2 1 0.46 1.00 -- -- -- -- -- -- --
    About this table
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: --

    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

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for SLC46A1 gene from 5/8 species (see all 8 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    SLC46A11   -- solute carrier family 46 (folate transporter), member more 87.51(n)
    87.58(a)
    491166  XM_548286.2  XP_548286.2 
    rat
    (Rattus norvegicus)
    Slc46a11   -- solute carrier family 46, member 1 84.43(n)
    87.34(a)
    303333  NM_001013969.1  NP_001013991.1 
    mouse
    (Mus musculus)
    Slc46a11, 5 11 (45.00 cM)5
    solute carrier family 46, member 11, 5 83.88(n)1
    86.93(a)1
    524661  NM_026740.11  NP_081016.11 
     AC0023245  AI8413305  (see all 13)
    chicken
    (Gallus gallus)
    SLC46A11   -- solute carrier family 46, member 1 64.96(n)
    59.11(a)
    417569  XM_415815.2  XP_415815.2 
    zebrafish
    (Danio rerio)
    zgc564002   -- hypothetical protein MGC56400 72.64(n) 393255  BC049421.1 
    About this table        Species with no ortholog for SLC46A1

    ENSEMBL Gene Tree for SLC46A1
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for SLC46A1 gene
    SLC46A32  SLC46A22  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/45 NCBI SNPs in SLC46A1 are shown (see all 45 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 46)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 17 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    --
    rs72258041,2
    A,C,F23757830(+) ttggaA/Gcacct 1 -- ng315Minor allele frequency- G:0.12NS 376
    --
    rs99059731,2
    A,C,F23759269(+) GAGAGG/ACCAAG 1 -- ng31 tfbs35Minor allele frequency- A:0.30NS 370
    --
    rs72123491,2
    A,C,F23757825(+) ctgggC/Ttggag 1 -- ng315Minor allele frequency- T:0.41NS 376
    rs345529661,2
    C,F23755959(+) GGGTGT/CGCTTA 1 A/T mis16Minor allele frequency- C:0.00NA NS 452
    rs412970631,2
    F23757479(-) GGCTGG/AGGGTG 1 -- ng315Minor allele frequency- A:0.02NS 368
    rs285265361,2
    C23757706(+) CGAGGT/CCATCG 1 -- ng315Minor allele frequency- C:0.00NS 380
    --
    rs412970611,2
    F23757537(-) GGGAGG/AGAGGG 1 -- ng315Minor allele frequency- A:0.01NS 380
    --
    rs412964671,2
    F23759132(-) GGAGAG/ATGGAG 1 -- ng315Minor allele frequency- A:0.00NS 372
    --
    rs412970491,2
    F23758407(-) ATCTTC/TTCTAA 1 -- ng315Minor allele frequency- T:0.35NS 366
    --
    rs412964651,2
    F23759146(-) TGGAAG/AGGGAG 1 -- ng315Minor allele frequency- A:0.01NS 372
    About this table

    HapMap Linkage Disequilibrium images for SLC46A1 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 611672   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
  • GeneTests: SLC46A1

    Hereditary Folate Malabsorption

    Human Gene Mutation Database: SLC46A1
    Human Genome Epidemiology Navigator: SLC46A1 (2 documents)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

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

    10/24 PubMed articles for SLC46A1 gene (see all 24 ):
    (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, and/or H-InvDB)
    About This Section

    Entrez Gene: 113235 HGNC: 30521 AceView: MGC9564 Ensembl:ENSG00000076351 euGenes: HUgn113235
    ECgene: SLC46A1 H-InvDB: SLC46A1
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

      --
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for SLC46A1:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



      Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
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     Predesigned and custom siRNAs for SLC46A1 Browse antibodies at Sigma-Aldrich
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     Lentivirus-delivered shRNAs for SLC46A1 Browse small molecules at Sigma-Aldrich
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