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SLC2A1 Gene

protein-coding   GIFtS: 71
GCID: GC01M043391

Solute Carrier Family 2 (Facilitated Glucose Transporter),...

(Previous name: human T-cell leukemia virus (I and II) receptor)
(Previous symbols: GLUT1, GLUT, HTLVR)
  See SLC2A1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Solute Carrier Family 2 (Facilitated Glucose Transporter), Member 11 2     DYT182 5
GLUT11 2 3 5     DYT92 5
GLUT1 2     EIG122 5
HTLVR1 2     GLUT1DS2 5
Human T-Cell Leukemia Virus (I And II) Receptor1 2     PED2 5
Glucose Transporter Type 1, Erythrocyte/Brain2 3     DYT172
HepG2 Glucose Transporter2 3     Solute Carrier Family 2, Facilitated Glucose Transporter Member 12
GLUT-12 3     

External Ids:    HGNC: 110051   Entrez Gene: 65132   Ensembl: ENSG000001173947   OMIM: 1381405   UniProtKB: P111663   

Export aliases for SLC2A1 gene to outside databases

Previous GC identifers: GC01P043382 GC01M042395 GC01M042855 GC01M042804 GC01M043060 GC01M043164 GC01M041511


(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 SLC2A1 Gene:
This gene encodes a major glucose transporter in the mammalian blood-brain barrier. The encoded protein is found
primarily in the cell membrane and on the cell surface, where it can also function as a receptor for human T-cell
leukemia virus (HTLV) I and II. Mutations in this gene have been found in a family with paroxysmal
exertion-induced dyskinesia. (provided by RefSeq, Apr 2013)

GeneCards Summary for SLC2A1 Gene:
SLC2A1 (solute carrier family 2 (facilitated glucose transporter), member 1) is a protein-coding gene. Diseases associated with SLC2A1 include epilepsy, idiopathic generalized, suscpetibility to, 12, and glut1 deficiency syndrome 2. GO annotations related to this gene include protein self-association and identical protein binding. An important paralog of this gene is ENSG00000251357.

UniProtKB/Swiss-Prot: GTR1_HUMAN, P11166
Function: Facilitative glucose transporter. This isoform may be responsible for constitutive or basal glucose
uptake. Has a very broad substrate specificity; can transport a wide range of aldoses including both pentoses and
hexoses

summary for SLC2A1 Gene:
Glucose is an essential source of energy for mammalian cells, and is also used as a substrate in protein and
lipid synthesis. Given its hydrophilic nature, glucose must be transported into the cell by dedicated
transporters; these are encoded by genes known collectively as the facilitative glucose transporter gene
family (GLUT). There are 13 known members of the GLUT family. Glucose transporters maintain a ready supply
of glucose for the cell's metabolic activity. During growth and division, the energy demands of a cell are
increased; it needs glucose to generate ATP and biomass. Cancer cells, which proliferate at a greater rate,
thus require more energy than a normal cell. Aerobic glycolysis - often observed in tumor cells, and also
known as the Warburg effect - relies on a high rate of glucose uptake, since the generation of ATP by this
process is far less efficient than oxidative phosphorylation. Glucose transporters, in particular GLUT1,
have therefore become a target of interest in cancer research, as have glycolytic inhibitors.

Gene Wiki entry for SLC2A1 (GLUT1) 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_000001.10  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC2A1 gene promoter:
         MEF-2A   AP-1   MEF-2   c-Jun   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): SLC2A1 promoter sequence
   Search Chromatin IP Primers for SLC2A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC2A1


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

Entrez Gene cytogenetic band: 1p34.2   Ensembl cytogenetic band:  1p34.2   HGNC cytogenetic band: 1p34.2

SLC2A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC2A1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M043391:  view genomic region     (about GC identifiers)

Start:
43,391,046 bp from pter      End:
43,424,847 bp from pter
Size:
33,802 bases      Orientation:
minus 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: GTR1_HUMAN, P11166 (See protein sequence)
Recommended Name: Solute carrier family 2, facilitated glucose transporter member 1  
Size: 492 amino acids; 54084 Da
Subunit: Interacts with GIPC (via PDZ domain) (By similarity). Found in a complex with ADD2, DMTN and SLC2A1.
Interacts (via C-terminus cytoplasmic region) with DMTN isoform 2. Interacts with SNX27; the interaction is
required when endocytosed to prevent degradation in lysosomes and promote recycling to the plasma membrane
1 PDB 3D structure from and Proteopedia for SLC2A1:
1SUK (3D)    
Secondary accessions: A8K9S6 B2R620 D3DPX0 O75535 Q147X2

Explore the universe of human proteins at neXtProt for SLC2A1: NX_P11166

Explore proteomics data for SLC2A1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys245, Lys477
  • Glycosylation2 at Asn45
  • Modification sites at PhosphoSitePlus

  • See SLC2A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006507.2  
    ENSEMBL proteins: 
     ENSP00000416293   ENSP00000395521   ENSP00000394591   ENSP00000361578  
    Reactome Protein details: P11166

    SLC2A1 Human Recombinant Protein Products:

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    Novus Biologicals SLC2A1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for SLC2A1 

     
    antibodies-online proteins for SLC2A1 (4 products) 

     
    Search antibodies-online for peptides for SLC2A1

    SLC2A1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of SLC2A1
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    Novus Biologicals SLC2A1 Antibodies
    Abcam antibodies for SLC2A1
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    ThermoFisher Antibody for SLC2A1
    antibodies-online antibodies for SLC2A1 (141 products) 

    SLC2A1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for SLC2A1
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for SLC2A1 
    antibodies-online kits for SLC2A1 (23 products) 


    (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: Glucose transporter 1
    Class I transporters

    Selected InterPro protein domains (see all 6):
     IPR005829 Sugar_transporter_CS
     IPR005828 Sub_transporter
     IPR003663 Sugar/inositol_transpt
     IPR002439 Glu_transpt_1
     IPR020846 MFS_dom

    Graphical View of Domain Structure for InterPro Entry P11166

    ProtoNet protein and cluster: P11166

    4 Blocks protein domains:
    IPB000803 Mammalian facilitated glucose transporter family signature
    IPB002439 Glucose transporter type 1 (GLUT1) signature
    IPB003663 Sugar transporter signature
    IPB005829 Sugar transporter superfamily


    UniProtKB/Swiss-Prot: GTR1_HUMAN, P11166
    Similarity: Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose
    transporter subfamily


    Find genes that share domains with SLC2A1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: GTR1_HUMAN, P11166
    Function: Facilitative glucose transporter. This isoform may be responsible for constitutive or basal glucose
    uptake. Has a very broad substrate specificity; can transport a wide range of aldoses including both pentoses and
    hexoses

         Genatlas biochemistry entry for SLC2A1:
    solute carrier family 2,member A1,facilitated glucose transporter,not associated with susceptibility to NIDDM

         Gene Ontology (GO): Selected molecular function terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005355glucose transmembrane transporter activity TAS9462754
    GO:0005515protein binding IPI18347014
    GO:0019900kinase binding IEA--
    GO:0022857transmembrane transporter activity ----
    GO:0022891substrate-specific transmembrane transporter activity ----
         
    Find genes that share ontologies with SLC2A1           About GenesLikeMe


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Slc2a1):
     behavior/neurological  cellular  embryogenesis  growth/size/body  homeostasis/metabolism 
     mortality/aging  nervous system  no phenotypic analysis 

    Find genes that share phenotypes with SLC2A1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Slc2a1tm1Dcdv for SLC2A1

       genOway: Develop your customized and physiologically relevant rodent model for SLC2A1

    miRNA
    Products:
        
    miRTarBase miRNAs that target SLC2A1:
    hsa-mir-1262 (MIRT035848), hsa-mir-320a (MIRT044855), hsa-mir-484 (MIRT041808), hsa-mir-324-3p (MIRT042866), hsa-mir-149-5p (MIRT045432)

    Block miRNA regulation of human, mouse, rat SLC2A1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SLC2A1 (see all 73):
    hsa-miR-549 hsa-miR-582-3p hsa-miR-140-5p hsa-miR-4254 hsa-miR-4267 hsa-miR-1538 hsa-miR-508-5p hsa-miR-4293
    SwitchGear 3'UTR luciferase reporter plasmidSLC2A1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SLC2A1
    Predesigned siRNA for gene silencing in human, mouse, rat SLC2A1

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for SLC2A1 (see all 6)
    OriGene ORF clones in mouse, rat for SLC2A1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SLC2A1 (NM_006516)
    Sino Biological Human cDNA Clone for SLC2A1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SLC2A1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC2A1
    Addgene plasmids for SLC2A1 

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for SLC2A1 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC2A1

    Flow Cytometry
    Products:
       

     
    eBioscience FlowRNA Probe Sets ( VA6-13140) for SLC2A1 


    (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
    GTR1_HUMAN, P11166: Cell membrane; Multi-pass membrane protein (By similarity). Melanosome. Note=Localizes
    primarily at the cell surface (By similarity). Identified by mass spectrometry in melanosome fractions from stage
    I to stage IV
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytoskeleton2
    extracellular2
    mitochondrion2
    nucleus2
    cytosol1
    endoplasmic reticulum1
    endosome1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001939female pronucleus IEA--
    GO:0005622intracellular ----
    GO:0005737cytoplasm ----
    GO:0005886plasma membrane TAS--
    GO:0005901caveola IEA--

    Find genes that share ontologies with SLC2A1           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 SLC2A1 About   (see all 28)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Defective BTD causes biotidinase deficiency
    Defective BTD causes biotidinase deficiency1.00
    Metabolism of vitamins and cofactors1.00
    Defective AMN causes hereditary megaloblastic anemia 11.00
    Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC1.00
    Defective MMAA causes methylmalonic aciduria type cblA1.00
    Defective MUT causes methylmalonic aciduria mut type1.00
    Defective CD320 causes methylmalonic aciduria1.00
    Defects in cobalamin (B12) metabolism1.00
    2Transport 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
    Facilitative Na+-independent glucose transporters0.00
    3Regulation of Glucokinase by Glucokinase Regulatory Protein
    Glucose transport0.87
    Hexose transport0.87
    4Integration of energy metabolism
    Integration of energy metabolism0.75
    Regulation of Insulin Secretion0.75
    5Glycolysis and gluconeogenesis short map
    Glycolysis and Gluconeogenesis0.60


    Find genes that share SuperPaths with SLC2A1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    4 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for SLC2A1
        AMPK Enzyme Complex Pathway
    Antioxidant Action of Vitamin-C
    HIF1Alpha Pathway
    Cellular Transformation by HTLV1

    Selected BioSystems Pathways for SLC2A1 (see all 6)
        Insulin Signaling
    Glycolysis and Gluconeogenesis
    IL-3 Signaling Pathway
    HIF-2-alpha transcription factor network
    HIF-1-alpha transcription factor network


    4 Reactome Pathways for SLC2A1
        Regulation of insulin secretion
    Facilitative Na+-independent glucose transporters
    Glucose transport
    Vitamin C (ascorbate) metabolism


    Selected Kegg Pathways  (Kegg details for SLC2A1) (see all 8):
        HIF-1 signaling pathway
    Insulin secretion
    Thyroid hormone signaling pathway
    Adipocytokine signaling pathway
    Bile secretion

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SLC2A1 (see all 8): 
              Insulin Signaling Pathway in human mouse rat
              Cancer PathwayFinder in human mouse rat
              Hypoxia Signaling Pathway in human mouse rat
              Stress & Toxicity PathwayFinder in human mouse rat
              Drug Transporters in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SLC2A1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for SLC2A1 (P111661, 2, 3 ENSP000004162934) via UniProtKB, MINT, STRING, and/or I2D (see all 50)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COPS6Q7L5N12, 3MINT-63456 I2D: score=4 
    CALRP277973, ENSP000003208664I2D: score=3 STRING: ENSP00000320866
    PTK2BQ142893, ENSP000003328164I2D: score=3 STRING: ENSP00000332816
    GAPDHP044063, ENSP000002292394I2D: score=2 STRING: ENSP00000229239
    UBE2IP632793, ENSP000003248974I2D: score=2 STRING: ENSP00000324897
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006112energy reserve metabolic process TAS--
    GO:0006461protein complex assembly IDA18347014
    GO:0006766vitamin metabolic process TAS--
    GO:0006767water-soluble vitamin metabolic process TAS--

    Find genes that share ontologies with SLC2A1           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 

    Compounds for SLC2A1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    STF 31GLUT1 inhibitor[724741-75-7]

    1 HMDB Compound for SLC2A1    About this table
    CompoundSynonyms CAS #PubMed Ids
    D-Glucose(+)-Glucose (see all 23)50-99-7--

    3 DrugBank Compounds for SLC2A1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Dehydroascorbic AcidDehydroascorbate (see all 3)490-83-5transporter--14642847 8316303 9389750
    2-deoxyglucose2-Deoxy-D-arabino-hexose (see all 3)154-17-6transporter--14642847
    Etomidate-- 33125-97-2carrierinhibitor10927023

    1 IUPHAR Ligand for SLC2A1 (Glucose transporter 1)    About this table
    LigandTypeActionAffinityPubmed IDs
    [3H]2-deoxyglucose
    NoneNone--

    Selected Novoseek inferred chemical compound relationships for SLC2A1 gene (see all 103)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glucose 90.1 1982 2168170 (8), 18650261 (8), 15389572 (6), 19490621 (6) (see all 99)
    cytochalasin b 84.3 112 8942661 (5), 8810921 (5), 1716731 (4), 14643928 (3) (see all 42)
    2-deoxyglucose 84.3 56 15714127 (4), 8843750 (3), 8621505 (2), 19490621 (2) (see all 35)
    3-o-methylglucose 82.8 32 1599406 (3), 16928769 (2), 10715121 (2), 8626697 (1) (see all 16)
    2-n-4-(1-azi-2,2,2-trifluoroethyl)benzoyl-1,3-bis(d-mannos-4-yloxy)-2-propylamine 72.1 1 8444835 (1)
    iaps-forskolin 70.9 1 2264820 (1)
    pimonidazole 70.2 16 16242253 (4), 12532423 (3), 14520462 (2), 18973979 (2) (see all 6)
    3-omg 69.8 1 9724536 (1)
    dehydroascorbic acid 67.1 40 8621505 (3), 11358456 (3), 12183123 (3), 16195374 (2) (see all 15)
    18f fluorodeoxyglucose 66.8 55 19317609 (5), 12926062 (4), 19536037 (3), 19360342 (2) (see all 20)



    Find genes that share compounds with SLC2A1           About GenesLikeMe



    (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 SLC2A1 gene: 
    NM_006516.2  

    Unigene Cluster for SLC2A1:

    Solute carrier family 2 (facilitated glucose transporter), member 1
    Hs.473721  [show with all ESTs]
    Unigene Representative Sequence: NM_006516
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000426263(uc001cik.2) ENST00000475162 ENST00000439722 ENST00000415851
    ENST00000372500 ENST00000460369
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate SLC2A1 (see all 73):
    hsa-miR-549 hsa-miR-582-3p hsa-miR-140-5p hsa-miR-4254 hsa-miR-4267 hsa-miR-1538 hsa-miR-508-5p hsa-miR-4293
    SwitchGear 3'UTR luciferase reporter plasmidSLC2A1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SLC2A1
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    GenScript: all cDNA clones in your preferred vector: SLC2A1 (NM_006516)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SLC2A1
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    Addgene plasmids for SLC2A1 
    Primer
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    OriGene qPCR primer pairs and template standards for SLC2A1
    OriGene qSTAR qPCR primer pairs in human, mouse for SLC2A1
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    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA6-13140) for SLC2A1 

    Additional mRNA sequence: 

    AB208987.1 AF070544.1 AK122999.1 AK292791.1 AK293306.1 AK296736.1 AK312403.1 AY034633.1 
    BC118590.1 BC121804.1 K03195.1 

    Selected DOTS entries (see all 46):

    DT.95069713  DT.100678799  DT.95069727  DT.91678781  DT.97855673  DT.95069724  DT.100678790  DT.91854288 
    DT.100645085  DT.121376287  DT.121376224  DT.121376359  DT.453395  DT.95069736  DT.100039361  DT.121376302 
    DT.100847216  DT.121376373  DT.95069687  DT.95146737  DT.100678789  DT.100678815  DT.100834466  DT.100678793 

    Selected AceView cDNA sequences (see all 1138):

    BM840256 BU191110 CR606581 BI914623 BQ186823 BU556829 AL547677 CR599895 
    BI490999 BQ652833 R05534 BM708424 BM552209 BQ646155 BQ064768 AI342577 
    CA488659 BM919225 BQ707655 BM907203 CR606197 R29580 AF070544 BM928036 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SLC2A1 (see all 8)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c · 4d ^ 5a · 5b · 5c · 5d ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b · 11c
    SP1:                    -                                   -     -                 -                                                         
    SP2:                                                        -                       -                                                         
    SP3:                    -                                   -     -                                                                           
    SP4:                    -                                   -     -                                                                           
    SP5:                    -           -     -     -           -     -                                                                           


    ECgene alternative splicing isoforms for SLC2A1

    (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)
    About This Section

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    SLC2A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGACTCCTG
    SLC2A1 Expression
    About this image


    SLC2A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 14) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Mature Choroid Plexus Cells Choroid Plexus
             Endothelial cells
     
     Endothelium (Cardiovascular System)    fully expand to see all 8 entries
             Angioblasts Perineural capillary Plexus
             Endothelial cells
     
     Epithelial Cells
             Mature Choroid Plexus Cells Choroid Plexus
     
     Neural Tube (Nervous System)
             Angioblasts Perineural capillary Plexus
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             Erythroblasts Hematopoietic Bone Marrow
             Peripheral blood-derived hematopoietic stem cells (family)
    SLC2A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC2A1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.473721

    UniProtKB/Swiss-Prot: GTR1_HUMAN, P11166
    Tissue specificity: Expressed at variable levels in many human tissues

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SLC2A1 (see all 8): 
              Insulin Signaling Pathway in human mouse rat
              Cancer PathwayFinder in human mouse rat
              Hypoxia Signaling Pathway in human mouse rat
              Stress & Toxicity PathwayFinder in human mouse rat
              Drug Transporters in human mouse rat

    Primer
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC2A1

    (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

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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for SLC2A1 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc2a11 , 5 solute carrier family 2 (facilitated glucose transporter), more1, 5 89.5(n)1
    97.15(a)1
      4 (55.34 cM)5
    205251  NM_011400.31  NP_035530.21 
     1191087115 
    chicken
    (Gallus gallus)
    Aves SLC2A11 solute carrier family 2 (facilitated glucose transporter), more 80.87(n)
    88.52(a)
      396130  NM_205209.1  NP_990540.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC533012 hypothetical protein MGC53301 74.45(n)    BC049174.1 
    zebrafish
    (Danio rerio)
    Actinopterygii slc2a1b1 solute carrier family 2 (facilitated glucose transporter), more 72.51(n)
    80(a)
      100321338  XM_002662528.2  XP_002662574.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Glut13 glucose transporter 50(a)
    (best of 6)
      61E1   --
    worm
    (Caenorhabditis elegans)
    Secernentea H17B01.1a3 sugar transporter 39(a)
    (best of 9)
      II(1504573-1509692)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes --
    VPS736
    Putative transporter, member of the sugar porter f...
    Mitochondrial protein; mutation affects vacuolar p...
    28(a)
    26(a)
    many ↔ many
    many ↔ many
    II(702589-704055) YBR241C
    VII(308713-310173) YGL104C


    ENSEMBL Gene Tree for SLC2A1 (if available)
    TreeFam Gene Tree for SLC2A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SLC2A1 gene
    ENSG000002513572  SLC2A52  SLC2A72  SLC2A32  SLC2A92  SLC2A142  SLC2A22  SLC2A42  
    SLC2A112  
    12 SIMAP similar genes for SLC2A1 using alignment to 5 protein entries:     GTR1_HUMAN (see all proteins):
    SLC2A3    SLC2A14    SLC2A4    SLC2A2    SLC2A5    SLC2A7
    SLC2A9    SLC2A11    SLC2A11-a    SLC2A11-c    SLC2A10    SLC2A8

    Find genes that share paralogs with SLC2A1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for SLC2A1
    PGOHUM00000240199


    (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)
    About This Section

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    Selected SNPs for SLC2A1 (see all 975)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0652184
    GLUT1 deficiency syndrome 2 (GLUT1DS2)4--see VAR_0652182 N T mis40--------
    VAR_0652164
    GLUT1 deficiency syndrome 1 (GLUT1DS1)4--see VAR_0652162 R W mis40--------
    VAR_0652224
    GLUT1 deficiency syndrome 1 (GLUT1DS1)4--see VAR_0652222 G D mis40--------
    VAR_0547594
    GLUT1 deficiency syndrome 1 (GLUT1DS1)4--see VAR_0547592 R C mis40--------
    VAR_0547564
    GLUT1 deficiency syndrome 1 (GLUT1DS1)4--see VAR_0547562 N S mis40--------
    VAR_0652194
    GLUT1 deficiency syndrome 2 (GLUT1DS2)4--see VAR_0652192 S L mis40--------
    VAR_0132834
    GLUT1 deficiency syndrome 1 (GLUT1DS1)4--see VAR_0132832 S F mis40--------
    VAR_0652104
    GLUT1 deficiency syndrome 2 (GLUT1DS2)4--see VAR_0652102 R H mis40--------
    VAR_0547634
    GLUT1 deficiency syndrome 1 (GLUT1DS1)4--see VAR_0547632 T M mis40--------
    VAR_0652124
    GLUT1 deficiency syndrome 2 (GLUT1DS2)4--see VAR_0652122 V I mis40--------

    HapMap Linkage Disequilibrium report for SLC2A1 (43391046 - 43424847 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for SLC2A1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2657422CNV Deletion23128226
    nsv699CNV Insertion18451855

    Human Gene Mutation Database (HGMD): SLC2A1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC2A1
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC2A1

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

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    OMIM gene information: 138140   
    OMIM disorders: 606777  612126  614847  601042  
    UniProtKB/Swiss-Prot: GTR1_HUMAN, P11166
  • GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777]: A neurologic disorder showing wide phenotypic
    variability. The most severe 'classic' phenotype comprises infantile-onset epileptic encephalopathy associated
    with delayed development, acquired microcephaly, motor incoordination, and spasticity. Onset of seizures, usually
    characterized by apneic episodes, staring spells, and episodic eye movements, occurs within the first 4 months of
    life. Other paroxysmal findings include intermittent ataxia, confusion, lethargy, sleep disturbance, and
    headache. Varying degrees of cognitive impairment can occur, ranging from learning disabilities to severe mental
    retardation. Note=The disease is caused by mutations affecting the gene represented in this entry
  • GLUT1 deficiency syndrome 2 (GLUT1DS2) [MIM:612126]: A clinically variable disorder characterized
    primarily by onset in childhood of paroxysmal exercise-induced dyskinesia. The dyskinesia involves transient
    abnormal involuntary movements, such as dystonia and choreoathetosis, induced by exercise or exertion, and
    affecting the exercised limbs. Some patients may also have epilepsy, most commonly childhood absence epilepsy.
    Mild mental retardation may also occur. In some patients involuntary exertion-induced dystonic, choreoathetotic,
    and ballistic movements may be associated with macrocytic hemolytic anemia. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Epilepsy, idiopathic generalized 12 (EIG12) [MIM:614847]: A disorder characterized by recurring
    generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized
    seizures arise diffusely and simultaneously from both hemispheres of the brain. Seizure types include juvenile
    myoclonic seizures, absence seizures, and generalized tonic-clonic seizures. In some EIG12 patients seizures may
    remit with age. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Dystonia 9 (DYT9) [MIM:601042]: An autosomal dominant neurologic disorder characterized by childhood
    onset of paroxysmal choreoathetosis and progressive spastic paraplegia. Most patients show some degree of
    cognitive impairment. Other variable features may include seizures, migraine headaches, and ataxia. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for SLC2A1 (see all 32):    
    About MalaCards
    epilepsy, idiopathic generalized, suscpetibility to, 12    glut1 deficiency syndrome 2    dystonia 18    glut1 deficiency syndrome 1
    hereditary cryohydrocytosis with reduced stomatin    glucose transporter type 1 deficiency syndrome    dystonia 9    t-cell leukemia
    myoclonic astatic epilepsy    paroxysmal choreoathetosis    necrobiosis lipoidica    epilepsy, childhood absence, susceptibility to, 2
    early onset absence epilepsy    benign paroxysmal positional nystagmus    intraneural perineurioma    perineurioma
    vascular cancer    thymic epithelial neoplasm    hemiplegia    thoracic cancer

    9 diseases from the University of Copenhagen DISEASES database for SLC2A1:
    Capillary hemangioma     Perineurioma     Carcinoma     Hemangioma
    Hyperglycemia     Diabetes mellitus     Microcephaly     Pyruvate decarboxylase deficiency
    Vascular cancer

    Find genes that share disorders with SLC2A1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for SLC2A1 gene (see all 95)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    perineurioma 71.3 4 12692193 (1), 15086844 (1), 18620729 (1), 18520438 (1)
    microcephaly 62.2 15 15152356 (1), 15622525 (1), 18614966 (1), 19591936 (1) (see all 12)
    tumors 54.7 457 8683296 (9), 18620729 (7), 8314336 (5), 17991316 (5) (see all 99)
    developmental delay 54 16 15622525 (1), 16217704 (1), 18614966 (1), 10323476 (1) (see all 15)
    insulin resistance 51.5 18 9950801 (2), 9801136 (2), 11436180 (2), 1569156 (1) (see all 12)
    diabetic nephropathies 51.5 27 15717166 (3), 11168944 (2), 15745834 (2), 15682272 (2) (see all 18)
    hyperglycemia 50.2 26 14688680 (2), 11080093 (2), 16413942 (2), 9766571 (2) (see all 17)
    hemangioma 45.2 43 17554865 (4), 10665907 (4), 17926859 (4), 17241430 (3) (see all 18)
    granuloma pyogenic 44 7 17241430 (4), 15469208 (1), 19706097 (1), 10665907 (1)
    cancer 43.7 132 9293784 (3), 17071132 (3), 18979289 (3), 17064593 (3) (see all 79)

    Genatlas disease: SLC2A1
    infantile seizures,microcephaly,developmental delay and hypoglycorrhachia,caused by haploinsufficiency of the
    blood-brain barrier hexose carrier

    GeneTests: SLC2A1
    GeneReviews: SLC2A1
    Genetic Association Database (GAD): SLC2A1
    Human Genome Epidemiology (HuGE) Navigator: SLC2A1 (36 documents)

    Export disorders for SLC2A1 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 SLC2A1 gene, integrated from 10 sources (see all 1217):
    (articles sorted by number of sources associating them with SLC2A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. (PubMed id 18451999)1, 2, 3, 9 Weber Y.G.... Lerche H. (J. Clin. Invest. 2008)
    2. Autosomal dominant transmission of GLUT1 deficiency. (PubMed id 11136715)1, 2, 9 Klepper J.... Voit T. (Hum. Mol. Genet. 2001)
    3. Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome. (PubMed id 10980529)1, 2, 9 Wang D.... De Vivo D.C. (Hum. Mutat. 2000)
    4. The ubiquitous glucose transporter GLUT-1 is a receptor for HTLV. (PubMed id 14622599)1, 3, 9 Manel N....Battini J.L. (Cell 2003)
    5. Association between the GLUT1 gene polymorphism and the risk of diabetic nephropathy: a meta-analysis. (PubMed id 15682272)1, 4, 9 Zintzaras E. and Stefanidis I. (J. Hum. Genet. 2005)
    6. Frequency distribution of XbaIG &gt; T and HaeIIIT &gt; C GLUT1 polymorphisms among different Brazilian ethnic groups. (PubMed id 19347605)1, 4, 9 Costa G.C....Gadelha S.R. (Mol. Biol. Rep. 2010)
    7. Polymorphisms at GLUT1 gene are not associated with the development of TSP/HAM in Brazilian HTLV-1 infected individuals and the discovery of a new polymorphism at GLUT1 gene. (PubMed id 19152396)1, 4, 9 Costa G.C....Alcantara L.C. (J. Med. Virol. 2009)
    8. XbaI GLUT1 gene polymorphism and the risk of type 2 diabetes with nephropathy. (PubMed id 19822956)1, 4, 9 Stefanidis I....Zintzaras E. (Dis. Markers 2009)
    9. Risk genotypes and haplotypes of the GLUT1 gene for type 2 diabetic nephropathy in the Tunisian population. (PubMed id 18821326)1, 4, 9 Makni K....Ayadi H. (Ann. Hum. Biol. 2008)
    10. The GLUT-1 XbaI gene polymorphism is associated with vascular calcifications in nondiabetic uremic patients. (PubMed id 18311082)1, 4, 9 Rufino M....Salido E. (Nephron Clin Pract 2008)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 6513 HGNC: 11005 AceView: SLC2A1 Ensembl:ENSG00000117394 euGenes: HUgn6513
    ECgene: SLC2A1 Kegg: 6513 H-InvDB: SLC2A1

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for SLC2A1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SLC2A1[genesymbol]
    Wikipedia http://en.wikipedia.org/wiki/GLUT1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SLC2A1 gene:
    Search GeneIP for patents involving SLC2A1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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