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SLC47A1 Gene

protein-coding   GIFtS: 57
GCID: GC17P019398

Solute Carrier Family 47 (Multidrug And Toxin Extrusion),...

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Solute Carrier Family 47 (Multidrug And Toxin Extrusion), Member 11 2     Multidrug And Toxin Extrusion Protein 12
MATE12 3 5     Solute Carrier Family 47, Member 12
Multidrug And Toxin Extrusion 11 2     Solute Carrier Family 47 Member 13
MATE-12 3     FLJ108475
hMATE-12 3     

External Ids:    HGNC: 255881   Entrez Gene: 552442   Ensembl: ENSG000001424947   OMIM: 6098325   UniProtKB: Q96FL83   

Export aliases for SLC47A1 gene to outside databases

Previous GC identifers: GC17P019378 GC17P019437 GC17P018816


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SLC47A1 Gene:
This gene is located within the Smith-Magenis syndrome region on chromosome 17. It encodes a protein of unknown
function. (provided by RefSeq, Jul 2008)

GeneCards Summary for SLC47A1 Gene:
SLC47A1 (solute carrier family 47 (multidrug and toxin extrusion), member 1) is a protein-coding gene. GO annotations related to this gene include monovalent cation:hydrogen antiporter activity and drug transmembrane transporter activity. An important paralog of this gene is SLC47A2.

UniProtKB/Swiss-Prot: S47A1_HUMAN, Q96FL8
Function: Solute transporter for tetraethylammonium (TEA), 1-methyl-4-phenylpyridinium (MPP), cimetidine,
N-methylnicotinamide (NMN), metformin, creatinine, guanidine, procainamide, topotecan, estrone sulfate,
acyclovir, ganciclovir and also the zwitterionic cephalosporin, cephalexin and cephradin. Seems to also play a
role in the uptake of oxaliplatin (a new platinum anticancer agent). Able to transport paraquat (PQ or
N,N-dimethyl-4-4'-bipiridinium); a widely used herbicid. Responsible for the secretion of cationic drugs across
the brush border membranes

Gene Wiki entry for SLC47A1 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NC_018928.2  NT_010718.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC47A1 gene promoter:
         Bach1   Max1   AP-1   Bach2   AP-4   C/EBPalpha   CHOP-10   ARP-1   SEF-1 (1)   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC47A1 promoter sequence
   Search Chromatin IP Primers for SLC47A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC47A1


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

Entrez Gene cytogenetic band: 17p11.2   Ensembl cytogenetic band:  17p11.2   HGNC cytogenetic band: 17p11.2

SLC47A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC47A1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P019398:  view genomic region     (about GC identifiers)

Start:
19,398,698 bp from pter      End:
19,482,347 bp from pter
Size:
83,650 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: S47A1_HUMAN, Q96FL8 (See protein sequence)
Recommended Name: Multidrug and toxin extrusion protein 1  
Size: 570 amino acids; 61922 Da
Sequence caution: Sequence=AAH50592.1; Type=Erroneous initiation;
Secondary accessions: Q53HF5 Q6PD77 Q86VL4 Q9NVA3
Alternative splicing: 3 isoforms:  Q96FL8-1   Q96FL8-2   Q96FL8-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SLC47A1: NX_Q96FL8

Explore proteomics data for SLC47A1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SLC47A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_060712.2  
    ENSEMBL proteins: 
     ENSP00000462630   ENSP00000407155   ENSP00000270570   ENSP00000460164   ENSP00000378951  
     ENSP00000462225   ENSP00000415586   ENSP00000440435  
    Reactome Protein details: Q96FL8

    SLC47A1 Human Recombinant Protein Products:

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    Browse Proteins at Cloud-Clone Corp.

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

    IUPHAR Guide to PHARMACOLOGY protein family classification: Multi antimicrobial extrusion protein
    SLC47 family of multidrug and toxin extrusion transporters

    1 InterPro protein domain:
     IPR002528 MATE

    Graphical View of Domain Structure for InterPro Entry Q96FL8

    ProtoNet protein and cluster: Q96FL8

    1 Blocks protein domain: IPB002528 Multi antimicrobial extrusion protein MatE

    UniProtKB/Swiss-Prot: S47A1_HUMAN, Q96FL8
    Similarity: Belongs to the multi antimicrobial extrusion (MATE) (TC 2.A.66.1) family


    Find genes that share domains with SLC47A1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: S47A1_HUMAN, Q96FL8
    Function: Solute transporter for tetraethylammonium (TEA), 1-methyl-4-phenylpyridinium (MPP), cimetidine,
    N-methylnicotinamide (NMN), metformin, creatinine, guanidine, procainamide, topotecan, estrone sulfate,
    acyclovir, ganciclovir and also the zwitterionic cephalosporin, cephalexin and cephradin. Seems to also play a
    role in the uptake of oxaliplatin (a new platinum anticancer agent). Able to transport paraquat (PQ or
    N,N-dimethyl-4-4'-bipiridinium); a widely used herbicid. Responsible for the secretion of cationic drugs across
    the brush border membranes
    Biophysicochemical properties: Kinetic parameters: KM=0.38 mM for TEA; KM=0.10 mM for MPP; KM=0.17 mM for
    cimetidine; KM=0.78 mM for metformin; KM=2.1 mM for guanidine; KM=1.23 mM for procainamide; KM=0.07 mM for
    topotecan; KM=0.47 mM for estrone sulfate; KM=2.64 mM for acyclovir; KM=5.12 mM for ganciclovir; Vmax=1.185
    nmol/min/mg enzyme toward TEA; Vmax=0.735 nmol/min/mg enzyme toward MPP; Vmax=0.135 nmol/min/mg enzyme toward
    cimetidine; Vmax=2.23 nmol/min/mg enzyme toward metformin; Vmax=0.89 nmol/min/mg enzyme toward guanidine;
    Vmax=3.78 nmol/min/mg enzyme toward procainamide; Vmax=0.21 nmol/min/mg enzyme toward topotecan; Vmax=0.265
    nmol/min/mg enzyme toward estrone sulfate; Vmax=0.62 nmol/min/mg enzyme toward acyclovir; Vmax=1.08 nmol/min/mg
    enzyme toward ganciclovir; pH dependence: Optimum pH is 8.5. Active from pH 6 to 8.5;

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005451monovalent cation:hydrogen antiporter activity IEA--
    GO:0015238drug transmembrane transporter activity IEA--
    GO:0015297antiporter activity ----
         
    Find genes that share ontologies with SLC47A1           About GenesLikeMe


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Slc47a1):
     growth/size/body  homeostasis/metabolism  liver/biliary system  renal/urinary system 

    Find genes that share phenotypes with SLC47A1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Slc47a1tm1Kinu for SLC47A1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SLC47A1
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    hsa-miR-183*
    SwitchGear 3'UTR luciferase reporter plasmidSLC47A1 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    S47A1_HUMAN, Q96FL8: Cell membrane; Multi-pass membrane protein. Note=Predominantly localized at the plasma
    membrane but also found in intracellular organelles
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--
    GO:0031988membrane-bounded vesicle IEA--

    Find genes that share ontologies with SLC47A1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SLC47A1 About    
    See pathways by source

    SuperPathContained pathways About
    1Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    SLC-mediated transmembrane transport0.47
    Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds0.38
    Transmembrane transport of small molecules0.47
    2Metformin Pathway, Pharmacokinetics
    Metformin Pathway, Pharmacokinetics


    Find genes that share SuperPaths with SLC47A1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for SLC47A1
        Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds

    1 PharmGKB Pathway for SLC47A1
        Metformin Pathway, Pharmacokinetics

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SLC47A1
    Interactions:

        Search GeneGlobe Interaction Network for SLC47A1

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    Selected Interacting proteins for SLC47A1 (Q96FL83 ENSP000002705704) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARHGDIAP525653I2D: score=1 
    BCKDKO148743I2D: score=1 
    DLATP105153I2D: score=1 
    EEF1A1P681043I2D: score=1 
    GMPPBQ9Y5P63I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006855drug transmembrane transport ----
    GO:0015695organic cation transport IEA--
    GO:0015893drug transport ----
    GO:0055085transmembrane transport TAS--

    Find genes that share ontologies with SLC47A1           About GenesLikeMe



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

    Browse Tocris compounds for SLC47A1 (S47A1)

    6 DrugBank Compounds for SLC47A1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Acyclovir9-Hyroxyethoxymethylguanine (see all 8)59277-89-3transportersubstrate22970772
    BromodiphenhydramineAmbodryl Hydrochloride (see all 10)1808-12-4transporterinhibitor8309790
    CephalexinCefalessina [DCIT] (see all 12)15686-71-2transportersubstrate20484555
    Cimetidine-- 51481-61-9transporterinhibitor20519552
    Metformin-- 657-24-9transporterinhibitor20053795
    Sirolimus(-)-Rapamycin (see all 2)53123-88-9transporter--20053795

    3 IUPHAR Ligands for SLC47A1 (Multi antimicrobial extrusion protein)    About this table
    LigandTypeActionAffinityPubmed IDs
    pyrimethamine
    InhibitorInhibition6.8--
    [14C]TEA
    NoneNone6.816330770
    [14C]metformin
    NoneNone6.817509534



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SLC47A1 gene: 
    NM_018242.2  

    Unigene Cluster for SLC47A1:

    Solute carrier family 47, member 1
    Hs.232054  [show with all ESTs]
    Unigene Representative Sequence: BC010661
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000584348 ENST00000571335 ENST00000436810 ENST00000270570(uc002gvx.3 uc002gvy.1 uc010vyz.1 uc010cqp.1 uc010cqq.1 uc010vza.1 uc010vzb.1 uc010vzc.1)
    ENST00000574596 ENST00000576095 ENST00000575023 ENST00000497548 ENST00000395585
    ENST00000495425 ENST00000575377 ENST00000573009 ENST00000575362 ENST00000581558
    ENST00000457293(uc010vyy.1) ENST00000542886
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      QuantiFast Probe-based Assays in human, mouse, rat SLC47A1

    Additional mRNA sequence: 

    AK001709.1 AK127534.1 AK222625.1 AK225360.1 AK293196.1 AK298254.1 AK301854.1 AK302620.1 
    AK304647.1 AK310270.1 BC010661.2 BC050592.1 BC058882.1 

    7 DOTS entries:

    DT.312729  DT.101978955  DT.75118445  DT.120970913  DT.91959328  DT.95323260  DT.91980350 

    Selected AceView cDNA sequences (see all 77):

    AI335099 AW340645 AI128127 AW474941 BC010661 N78291 AV720891 AW263024 
    BM833678 AI372881 AW128917 AK001709 BC050592 BQ224604 AW025175 NM_018242 
    AU133139 BC058882 BX498820 BG398992 BX101865 AI985796 BI762713 BF725031 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SLC47A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAATTCTTTC
    SLC47A1 Expression
    About this image


    SLC47A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Kidney (Urinary System)
             Metanephros
     
     Testis (Reproductive System)
             Sertoli cells Seminiferous Tubules
     
     Liver (Hepatobiliary System)
     
     Adrenal Gland (Endocrine System)
     
     Placenta (Extraembryonic Tissues)
    SLC47A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC47A1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.232054

    UniProtKB/Swiss-Prot: S47A1_HUMAN, Q96FL8
    Tissue specificity: Expressed in adrenal gland, and to a lower extent in liver, skeletal muscle and kidney
    (especially found in luminal membranes of the urinary tubules, bile caniculi and brush border membranes)

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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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SLC47A1 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc47a11 , 5 solute carrier family 47, member 11, 5 80.83(n)1
    78.48(a)1
      11 (37.96 cM)5
    674731  NM_026183.51  NP_080459.21 
     613434015 
    chicken
    (Gallus gallus)
    Aves SLC47A16
    Gallus gallus solute carrier family 47, member 1 (...
    52(a)
    1 ↔ 1
    19(6860579-6996943)
    lizard
    (Anolis carolinensis)
    Reptilia SLC47A16
    solute carrier family 47 (multidrug and toxin extr...
    51(a)
    1 ↔ 1
    GL344108.1(1304-10968)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004983101 multidrug and toxin extrusion protein 1-like 58.79(n)
    55.44(a)
      100498310  XM_002934356.2  XP_002934402.2 
    zebrafish
    (Danio rerio)
    Actinopterygii slc47a26
    SLC47A1 (4 of 6)6
    (see all 6)
    solute carrier family 47, member 2
    solute carrier family 47 (multidrug and toxin extr...
    (see all 6)
    48(a)
    48(a)
    (see all 6)
    1 ↔ many
    1 ↔ many
    (see all 6)
    21(38828533-38851912) ENSDARG00000060051
    15(25936952-25947820) ENSDARG00000074561
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes (YDR338C)4
    YDR338C1
    Putative protein of unknown function, member of the more4
    YDR338C1
    41.14(n)1
    29.32(a)1
      4(1149466-1147379)4
    8519381, 4  NP_010625.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G524501 AT5G52450 44.52(n)
    36.02(a)
      835321  NM_124624.3  NP_200058.1 
    rice
    (Oryza sativa)
    Liliopsida Os06g04955001 Os06g0495500 47.17(n)
    36.16(a)
      4341096  NM_001064225.1  NP_001057690.1 


    ENSEMBL Gene Tree for SLC47A1 (if available)
    TreeFam Gene Tree for SLC47A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SLC47A1 gene
    SLC47A22  
    1 SIMAP similar gene for SLC47A1 using alignment to 6 protein entries:     S47A1_HUMAN (see all proteins):
    SLC47A2

    Find genes that share paralogs with SLC47A1           About GenesLikeMe


    3 Pseudogenes.org Pseudogenes for SLC47A1
    PGOHUM00000236958 PGOHUM00000237273 PGOHUM00000237277


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SLC47A1 (see all 929)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs24535791,2
    C,F,A--19435278(+) GGTTCC/AAGTGA 1 -- us2k19Minor allele frequency- A:0.46NA WA CSA EA 368
    rs1430022731,2
    C--19435387(+) TTTCTC/TTCCTA 1 -- us2k10--------
    rs1474720871,2
    C--19435495(+) TCCTCA/GGGTAT 1 -- us2k10--------
    rs1452986811,2
    C--19435647(+) TCAGA-/CCCCTA 1 -- us2k10--------
    rs1112708771,2
    F--19435704(+) GCAGGA/GCCAAC 1 -- us2k11Minor allele frequency- G:0.00CSA 1
    rs1825845571,2
    --19435935(+) AAGAGA/GGACAA 1 -- us2k10--------
    rs1999874381,2
    --19435962(+) TGTTT-/GTTTTT 1 -- us2k10--------
    rs1512036361,2
    --19436139(+) ACGGTA/GTTTCA 1 -- us2k10--------
    rs1869623091,2
    --19436344(+) ACAACA/GGAAGG 1 -- us2k10--------
    rs1147077951,2
    --19436474(+) CTTCAC/TAGCTG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for SLC47A1 (19398698 - 19482347 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for SLC47A1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv428337CNV Loss18775914

    Human Gene Mutation Database (HGMD): SLC47A1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC47A1
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC47A1

    (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.)
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    OMIM gene information: 609832    OMIM disorders: --


    Find genes that share disorders with SLC47A1           About GenesLikeMe

    Genetic Association Database (GAD): SLC47A1
    Human Genome Epidemiology (HuGE) Navigator: SLC47A1 (7 documents)

    Export disorders for SLC47A1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SLC47A1 gene, integrated from 10 sources (see all 40):
    (articles sorted by number of sources associating them with SLC47A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The MATE proteins as fundamental transporters of metabolic and xenobiotic organic cations. (PubMed id 16996621)1, 2, 3 Omote H.... Moriyama Y. (Trends Pharmacol. Sci. 2006)
    2. A human transporter protein that mediates the final excretion step for toxic organic cations. (PubMed id 16330770)1, 2, 3 Otsuka M....Moriyama Y. (Proc. Natl. Acad. Sci. U.S.A. 2005)
    3. Common variants in 40 genes assessed for diabetes incidence and response to metformin and lifestyle intervention in the diabetes prevention program. (PubMed id 20682687)1, 4 Jablonski K.A....Florez J.C. (Diabetes 2010)
    4. Interaction between polymorphisms in the OCT1 and MATE1 transporter and metformin response. (PubMed id 19898263)1, 4 Becker M.L....Stricker B.H. (Pharmacogenet. Genomics 2010)
    5. Human multidrug and toxin extrusion 1 (MATE1/SLC47A1) transporter: functional characterization, interaction with OCT2 (SLC22A2), and single nucleotide polymorphisms. (PubMed id 20053795)1, 7 Meyer zu Schwabedissen H.E....Kim R.B. (Am. J. Physiol. Renal Physiol. 2010)
    6. Heterozygous variants of multidrug and toxin extrusions (MATE1 and MATE2-K) have little influence on the disposition of metformin in diabetic patients. (PubMed id 20016398)1, 4 Toyama K....Inui K. (Pharmacogenet. Genomics 2010)
    7. The effects of genetic polymorphisms in the organic cation transporters OCT1, OCT2, and OCT3 on the renal clearance of metformin. (PubMed id 19536068)1, 4 Tzvetkov M.V....BrockmAPller J. (Clin. Pharmacol. Ther. 2009)
    8. Genetic variation in the multidrug and toxin extrusion 1 transporter protein influences the glucose-lowering effect of metformin in patients with diabetes: a preliminary study. (PubMed id 19228809)1, 4 Becker M.L....Stricker B.H. (Diabetes 2009)
    9. Identification and characterization of novel polymorphisms in the basal promoter of the human transporter, MATE1. (PubMed id 19745787)1, 4 Ha Choi J....Giacomini K.M. (Pharmacogenet. Genomics 2009)
    10. Substrate specificity of MATE1 and MATE2-K, human multidrug and toxin extrusions/H(+)-organic cation antiporters. (PubMed id 17509534)1, 2 Tanihara Y.... Inui K. (Biochem. Pharmacol. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 55244 HGNC: 25588 AceView: FLJ10847 Ensembl:ENSG00000142494 euGenes: HUgn55244
    ECgene: SLC47A1 H-InvDB: SLC47A1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SLC47A1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SLC47A1 gene:
    Search GeneIP for patents involving SLC47A1

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



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