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SLC46A1 Gene

protein-coding   GIFtS: 47

GC17M022930
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
Products    

Aliases &
Descriptions
for SLC46A1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section
Aliases & Descriptions
solute carrier family 46 (folate transporter), member 11 2     PCFT/HCP12 3
PCFT1 2 3 5     G212 3
HCP11 2 3 5     solute carrier family 46, member 11
MGC95641 2     proton-coupled folate transporter2
Heme carrier protein 12 3     FLJ398752
Solute carrier family 46 member 12 3     

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

Export aliases for SLC46A1 gene to outside databases

Previous GC identifers: GC17M023753 GC17M026721


Summaries
for SLC46A1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
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 transmembrane 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 cause the 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. (provided by RefSeq)

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

Genomic Views
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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for SLC46A1
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for SLC46A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for 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 gene densities for chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M022930:  view genomic region     (about GC identifiers)

Start:
 22,930,003 bp from pter
End:
 22,941,572 bp from pter
Size:
 11,570 bases
Orientation:
 minus strand

1 alternative location:
Chr17- 26,721,661-26,733,228     
RefSeq DNA sequence:
NC_000017.10  NT_010799.15  

Proteins
for SLC46A1 gene

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
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   

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

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


    • REFSEQ proteins: NP_542400.2  

    ENSEMBL proteins: 
    ENSP00000262401 ENSP00000318828 ENSP00000395653 


    Human Recombinant Proteins 
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    GenScript Custom Purified and Recombinant Proteins Services for SLC46A1 
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737 cytoplasm ISS--
    GO:0005886 plasma membrane TAS--
    GO:0016020 membrane ----
    GO:0016021 integral to membrane IEA--
    GO:0016324 apical plasma membrane IDA17475902
    About this table

    SLC46A1 for ontologies           About GeneDecksing



    Antibodies for SLC46A1: 
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for SLC46A1
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    GenScript Custom Superior Antibodies Services for SLC46A1 
    Novus Biologicals Antibody for SLC46A1
    Browse antibodies at Epitomics

    Assays for SLC46A1: 
    Browse Kits and Assays available from Millipore
    Browse ELISAs at Sigma-Aldrich
    OriGene Custom Immunoassay Development 
    Browse OriGene Fluorogenic Cell Assay Kits 
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for SLC46A1 
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs and CLIAs at Uscn 

    Protein Domains/
    Families
    for SLC46A1 gene

    (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:
     IPR011701 MFS_1
     IPR005829 Sugar_transporter_CS
     IPR020846 Major_facilitator_SF
     IPR016196 MFS_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


    Gene Function
    for SLC46A1 gene

    (According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
    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
    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;

    Inhib.
    RNA:            		Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for SLC46A1
    Sigma-Aldrich shRNA for SLC46A1
    OriGene 29mer shRNA kits in GFP-retroviral vector: SLC46A1
    OriGene shRNA RFP: SLC46A1
    OriGene basic RS shRNA: SLC46A1
    OriGene siRNA: SLC46A1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of SLC46A1 
    miRNA:Sigma-Aldrich microRNA Mimics for SLC46A1
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of SLC46A1 
    2 SABiosciences Assays for microRNAs that regulate SLC46A1:
    hsa-miR-485-5p hsa-miR-370

    Gene
    Editing:    		Browse CompoZr Knockout ZFN at Sigma-Aldrich 

    Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    Browse iPSC Reprogramming Factors at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: SLC46A1
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: SLC46A1
    OriGene untagged cDNA clones in CMV expression vector: SLC46A1
    OriGene 3'-UTR clone: SLC46A1 
    Browse MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for SLC46A1 
    Browse Sino Biological Human cDNA Clones

    Cell
    Lines:          		GenScript Custom overexpressing Cell Line Services for SLC46A1 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215 transporter activity IEA--
    GO:0005542 folic acid binding IEA--
    GO:0008517 folic acid transporter activity TAS--
    GO:0015232 heme transporter activity IEA--
    About this table

    SLC46A1 for ontologies           About GeneDecksing

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

    homeostasis/metabolism

    SLC46A1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for SLC46A1 gene

    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
    About This Section

        SABiosciences Custom Pathway-Focused PCR Arrays for SLC46A1 

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

    1 Interacting protein for SLC46A1 (ENSP000002624013) via UniProtKB, MINT, and/or STRING
    InteractantInteraction Details
    GeneCardExternal ID(s)
    --ENSP000003430333STRING: ENSP00000343033
    About this table

    5/7 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 7):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006766 vitamin metabolic process TAS--
    GO:0006767 water-soluble vitamin metabolic process TAS--
    GO:0006810 transport ----
    GO:0015884 folic acid transport IDA17475902
    GO:0015886 heme transport ----
    About this table

    SLC46A1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SLC46A1 gene

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

    Browse Tocris compounds for SLC46A1


    Transcripts
    for SLC46A1 gene

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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 Millipore,
    siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
    About This Section
    Inhib.
    RNA:             		Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for SLC46A1
    Sigma-Aldrich shRNA for SLC46A1
    OriGene 29mer shRNA kits in GFP-retroviral vector: SLC46A1
    OriGene shRNA RFP: SLC46A1
    OriGene basic RS shRNA: SLC46A1
    OriGene siRNA: SLC46A1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of SLC46A1 
    miRNA: Sigma-Aldrich microRNA Mimics for SLC46A1
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of SLC46A1 
    2 SABiosciences Assays for microRNAs that regulate SLC46A1:
    hsa-miR-485-5p hsa-miR-370
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: SLC46A1
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: SLC46A1
    OriGene untagged cDNA clones in CMV expression vector: SLC46A1
    OriGene 3'-UTR Clone: SLC46A1 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for SLC46A1 
    Primers: OriGene genome-wide validated SYBR primer pairs: SLC46A1
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for SLC46A1: PPH21425A

    REFSEQ mRNAs for SLC46A1 gene: 

    NM_080669.3  

    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):

    BQ070049 BM701658 AK097194 AI678912 BC010691 BM555101 BE044485 BM762406 
    BX336949 BG110047 BP350886 BC065365 BU187437 BU738714 CA449554 BM661898 
    BI819453 AA338308 CB528904 BC022100 BM821901 BM710084 BI438307 AI751866 

    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

    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000262401(uc010wak.1) ENST00000321666 ENST00000440501(uc002hbf.1 uc002hbg.1)


    Expression
    for SLC46A1 gene

    (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 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Primers from OriGene and/or SABiosciences )
    About This Section

    SLC46A1 expression in normal and diseased human tissues

    1  / 2

    4 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 -- -- -- -- --
    1552278_a_at2 U133Plus2 1 0.91 1.00 -- -- -- -- -- -- --
    1552279_a_at2 U133Plus2 1 0.91 1.00 -- -- -- -- -- -- --
    1558703_at2 U133Plus2 1 0.82 1.00 -- -- -- -- -- -- --
    About this table

    SLC46A1 for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    SLC46A1 gene expression
    SLC46A1 gene electronic northern expression
    SLC46A1 gene sage expression
    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

    Primers: OriGene genome-wide validated SYBR primer pairs: SLC46A1
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for SLC46A1: PPH21425A
        SABiosciences Custom PCR Arrays for SLC46A1 


    Orthologs
    for SLC46A1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, 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 (46.74 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 14)
    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 (if available)

    Paralogs
    for SLC46A1 gene

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
    Paralogs for SLC46A1 gene
    SLC46A32  SLC46A22  

    SLC46A1 for paralogs           About GeneDecksing



    Genomic Variants
    for SLC46A1 gene

    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
    About This Section

    10/65 NCBI SNPs in SLC46A1 are shown (see all 65)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 17 posSequenceRecsAA
    Chg    		TypeMoreRecsAllele
    freq    		PopTotal
    sample    		More
    ----------
    rs47954361,2
    		C,F,H,26729428(+) CCCCAT/CGTGGG 1 -- int121Minor allele frequency- C:0.14NA NS EA WA 1088
    rs47954371,2
    		C26730681(+) TATTGT/GTGACT 1 -- int14Minor allele frequency- G:0.00NS EA 418
    rs72123491,2
    		C,F,A,26733698(+) ctgggC/Ttggag 1 -- ng5111Minor allele frequency- T:0.39NS NA WA 436
    rs72258041,2
    		C,F,A,26733703(+) ttggaA/Gcacct 1 -- ng5113Minor allele frequency- G:0.13NS NA EA WA 526
    rs99059731,2
    		C,F,A,26735142(+) GAGAGG/ACCAAG 1 -- ng51 tfbs39Minor allele frequency- A:0.27NS EA NA WA 464
    rs177199441,2
    		C,F,26729453(+) CAGGAA/GGAACT 1 -- int114Minor allele frequency- G:0.03NA NS EA 944
    rs285265361,2
    		C26733579(+) CGAGGT/CCATCG 1 -- ng515Minor allele frequency- C:0.00NS 380
    rs345142371,2
    		C,F,26731229(+) CTGACT/AAAGGG 1 -- int17Minor allele frequency- A:0.01NS NA 372
    rs345529661,2
    		C,F26731832(+) GGGTGT/CGCTTA 2 /T /A ref1 mis16Minor allele frequency- C:0.00NA NS 452
    rs352576941,2
    		--26731725(+) GCATCG/AGCCAG 2 /A ref1 syn11Minor allele frequency- A:0.01NA 68
    About this table

    HapMap Linkage Disequilibrium images for SLC46A1 (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SLC46A1: --

    QIAGEN SeqTarget long-range PCR primers for resequencing SLC46A1 

    Disorders & Mutations
    for SLC46A1 gene

    (in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    SLC46A1 for disorders           About GeneDecksing

    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 (HGMD): SLC46A1
    Human Genome Epidemiology (HuGE) Navigator: SLC46A1 (4 documents)

    Export disorders and mutations for SLC46A1 gene to outside databases

    Medical News
    for SLC46A1 gene

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

    Publications
    for SLC46A1 gene

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

    10/39 PubMed articles for SLC46A1 gene, integrated from 7 sources (see all 39):
    (articles sorted by number of sources associating them with SLC46A1)
    1. Identification of an intestinal heme transporter. (PubMed id 16143108)1, 2, 3, 7 Shayeghi M.... McKie A.T. (2005)
    2. 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)
    3. Heme carrier protein 1 (HCP1) expression and functional analysis in the retina and retinal pigment epithelium. (PubMed id 17335806)1, 2, 7 Sharma S.... Della N.G. (2007)
    4. 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 Nakai Y.... Yuasa H. (2007)
    5. 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)
    6. 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)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    9. Heme carrier protein 1 (HCP1) genetic variants in the Hemochromatosis and Iron Overload Screening (HEIRS) Study participants. (PubMed id 19176287)1, 7 Wang X....Eckfeldt J.H. (2009)
    10. Expression of folate transporters in human placenta a nd implications for homocysteine metabolism. (PubMed id 20036773)1 Solanky N....Glazier J.D. (2010)

    External Searches for SLC46A1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing SLC46A1 gene

    (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 H-InvDB: SLC46A1

    Other Databases showing SLC46A1 gene

    (According to HUGE)
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    Specialized Databases showing SLC46A1 gene

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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    Intellectual Property
    for SLC46A1 gene

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

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