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

SLC2A1 Gene

protein-coding   GIFtS: 70
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)
Alzheimer's & Parkinson's Diseases Congress
  See 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)
About This Section

Aliases
Solute Carrier Family 2 (Facilitated Glucose Transporter), Member 11 2     DYT182 5
GLUT11 2 3 5     GLUT1DS2 5
GLUT1 2     PED2 5
HTLVR1 2     DYT172
Human T-Cell Leukemia Virus (I And II) Receptor1 2     DYT92
Glucose Transporter Type 1, Erythrocyte/Brain2 3     EIG122
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 adult glioblastoma multiforme, and glucose transporter type 1 deficiency syndrome, and among its related super-pathways are Transmembrane transport of small molecules and Glucose transport. GO annotations related to this gene include glucose transmembrane transporter activity 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_032977.9  NC_018912.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SLC2A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: 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
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P11166

  • SLC2A1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SLC2A1 Protein Expression
    REFSEQ proteins: NP_006507.2  
    ENSEMBL proteins: 
     ENSP00000416293   ENSP00000395521   ENSP00000394591   ENSP00000361578  
    Reactome Protein details: P11166
    Human Recombinant Protein Products for SLC2A1: 
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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. 

    Gene Ontology (GO): 5/13 cellular component terms (GO ID links to tree view) (see all 13):    About this table

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

    SLC2A1 for ontologies           About GeneDecksing



    SLC2A1 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of SLC2A1
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    LSBio Antibodies in human, mouse, rat for SLC2A1 

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    Browse CLIAs at Cloud-Clone Corp.


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

    IUPHAR Guide to PHARMACOLOGY protein family classification: Glucose transporter 1 
    Class I transporters

    5/6 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


    SLC2A1 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/10 molecular function terms (GO ID links to tree view) (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 ----
         
    SLC2A1 for ontologies           About GeneDecksing


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

    SLC2A1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Slc2a1tm1Dcdv for SLC2A1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SLC2A1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SLC2A1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SLC2A1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SLC2A1 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SLC2A1
    8/73 QIAGEN miScript miRNA 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:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for SLC2A1
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    Gene Editing
    Products:
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    Sirion Biotech Customized adenovirus for overexpression of SLC2A1

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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    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
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                         Customized lentivirus expression plasmids for stable overexpression of SLC2A1 

    Cell Line
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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC2A1


    (Pathways according to EMD Millipore, 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 SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SLC2A1 About   (see all 28)                                                                                              See pathways by source

    SuperPathContained pathways About
    1SLC-mediated transmembrane transport
    SLC-mediated transmembrane transport0.50
    Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds0.38
    Transmembrane transport of small molecules0.50
    2Regulation of Glucokinase by Glucokinase Regulatory Protein
    Glucose transport0.87
    Hexose transport0.87
    3Regulation of Insulin Secretion
    Regulation of Insulin Secretion0.74
    Integration of energy metabolism0.74
    4Metabolism of vitamins and cofactors
    Metabolism of water-soluble vitamins and cofactors1.00
    Metabolism of vitamins and cofactors1.00
    5Glycolysis and gluconeogenesis (short map)
    Glycolysis and Gluconeogenesis0.60

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 EMD Millipore Pathways for SLC2A1
        Selected targets of CREB1
    Selected targets of ESR1
    Selected targets of p53

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

    5/6 BioSystems Pathways for SLC2A1 (see all 6)
        Insulin Signaling
    Glycolysis and Gluconeogenesis
    IL-3 Signaling Pathway
    HIF-1-alpha transcription factor network
    HIF-2-alpha transcription factor network


    5/13        Reactome Pathways for SLC2A1 (see all 13)
        Metabolism of carbohydrates
    Hexose transport
    Metabolism
    Facilitative Na+-independent glucose transporters
    Metabolism of vitamins and cofactors


    5/7         Kegg Pathways  (Kegg details for SLC2A1) (see all 7):
        HIF-1 signaling pathway
    Insulin secretion
    Adipocytokine signaling pathway
    Bile secretion
    HTLV-I infection


    SLC2A1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SLC2A1

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

    5/44 Interacting proteins for SLC2A1 (P111661, 2, 3 ENSP000004162934) via UniProtKB, MINT, STRING, and/or I2D (see all 44)
    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): 5/15 biological process terms (GO ID links to tree view) (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--

    SLC2A1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SLC2A1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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--

    10/103 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)

    Search CenterWatch for drugs/clinical trials and news about SLC2A1 / GTR1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    About This Section

    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

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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
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC2A1
    Sirion Biotech Customized lentivirus for stable overexpression of SLC2A1 
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SLC2A1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat 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 

    24/46 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 

    24/1138 AceView cDNA sequences (see all 1138):

    BM671438 AI692357 BQ064742 AW137914 AU130663 BG680534 BQ647857 BG987803 
    BQ064768 CR599895 CR606197 BE220113 BX645448 AA419080 BQ687561 BU556829 
    BM708424 AU279732 AU129841 CR609110 BG741139 CA396902 BU191110 BM907203 

    GeneLoc Exon Structure

    5/8 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SLC2A1 expression in normal human tissues (normalized intensities)      SLC2A1 embryonic expression: see
    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 
     5/18 selected tissues (see all 18) fully expand
     
     Cartilage (Muscoskeletal System)    fully expand to see all 11 entries
             Intervertebral Disc Annulus Fibrosus Cells Thoracic Intervertebral Disc
             Meckel's Cartilage
             sensory organ/ear/inner ear   
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Mature Choroid Plexus Cells Choroid Plexus
     
     Endothelium (Cardiovascular System)    fully expand to see all 4 entries
             Angioblasts Perineural capillary Plexus
     
     Blood Brain Barrier (Nervous System)    fully expand to see all 4 entries
             Angioblasts Perineural capillary Plexus
     
     Eye (Sensory Organs)    fully expand to see all 3 entries
             Retina
             Human Retinal Pigment Epithelial Cells (HRPEpiC)   

    See SLC2A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC2A1

    SOURCE GeneReport for Unigene cluster: Hs.473721

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

        SABiosciences Expression via Pathway-Focused 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

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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

    Orthologs for SLC2A1 gene from 5/18 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_002662528.1  XP_002662574.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes YBR241C1 hypothetical protein 44.64(n)
    31.7(a)
      852543   NP_009800.1 


    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)
    About This Section
    Paralogs for SLC2A1 gene
    ENSG000002513572  SLC2A52  SLC2A72  SLC2A32  SLC2A142  SLC2A92  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

    SLC2A1 for paralogs           About GeneDecksing


    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/975 SNPs in SLC2A1 are shown (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
    SABiosciences Cancer Mutation PCR Assays
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    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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 138140   
    OMIM disorders: 606777  612126  
    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

  • 20/152 diseases for SLC2A1 (see all 152):    About MalaCards
    adult glioblastoma multiforme    glucose transporter type 1 deficiency syndrome    glut1 deficiency syndrome 1    dystonia 9
    dystonia 18    hereditary cryohydrocytosis with reduced stomatin    epilepsy, idiopathic generalized 12    glut1 deficiency syndrome 2
    early onset absence epilepsy    paroxysmal choreoathetosis    myoclonic astatic epilepsy    necrobiosis lipoidica
    perineurioma    thoracic cancer    intraneural perineurioma    thymic epithelial neoplasm
    hemangioma    pyogenic granuloma    alternating hemiplegia of childhood    vascular malformations

    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

    SLC2A1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/95 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)
    About This Section

    PubMed articles for SLC2A1 gene, integrated from 9 sources (see all 1203):
    (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. (2008)
    2. Autosomal dominant transmission of GLUT1 deficiency. (PubMed id 11136715)1, 2, 9 Klepper J.... Voit T. (2001)
    3. Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome. (PubMed id 10980529)1, 2, 9 Wang D.... De Vivo D.C. (2000)
    4. The ubiquitous glucose transporter GLUT-1 is a receptor for HTLV. (PubMed id 14622599)1, 3, 9 Manel N....Battini J.L. (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. (2005)
    6. Frequency distribution of XbaIG > T and HaeIIIT > C GLUT1 polymorphisms among different Brazilian ethnic groups. (PubMed id 19347605)1, 4, 9 Costa G.C....Gadelha S.R. (2009)
    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. (2009)
    8. XbaI GLUT1 gene polymorphism and the risk of type 2 d iabetes with nephropathy. (PubMed id 19822956)1, 4, 9 Stefanidis I....Zintzaras E. (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. (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. (2008)

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

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

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

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SLC2A1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC2A1
    Wikipedia http://en.wikipedia.org/wiki/GLUT1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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