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

SLC2A1 Gene

protein-coding   GIFtS: 69
GCID: GC01M043391

solute carrier family 2 (facilitated glucose transporter),...


(Previous symbols: GLUT1, GLUT)
 Explore 159 diseases affiliated with
SLC2A1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SLC2A1    

Aliases
for SLC2A1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Solute Carrier Family 2 (Facilitated Glucose Transporter), Member 11 2     GLUT1DS2 5
GLUT11 2 3 5     PED2 5
DYT181 2 5     DYT172
GLUT1 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


Summaries
for SLC2A1 gene

(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:
This gene encodes a major glucose transporter in the mammalian blood-brain barrier. Mutations in this gene have been
found in a family with paroxysmal exertion-induced dyskinesia. (provided by RefSeq, Jul 2008)

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:
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)


Genomic Views
for SLC2A1 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_032977.9  
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

Proteins
for SLC2A1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P11166

    • SLC2A1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_006507.2  
    ENSEMBL proteins: 
     ENSP00000416293   ENSP00000395521   ENSP00000394591   ENSP00000361578  
    Reactome Protein details: P11166
    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Purified Protein: SLC2A1
    OriGene Protein Over-expression Lysate: SLC2A1
    OriGene Custom Protein Services for SLC2A1 
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    Novus Biologicals SLC2A1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for SLC2A1

    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:0005624membrane fraction ----
    GO:0005737cytoplasm ----
    GO:0005886plasma membrane TAS--


    SLC2A1 for ontologies           About GeneDecksing



    SLC2A1 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of SLC2A1
    R&D Systems Antibodies for SLC2A1 (Glut1)
    OriGene Antibodies (see all 2): SLC2A1
    OriGene Custom Antibody Services for SLC2A1 
    GenScript Custom Superior Antibodies Services for SLC2A1
    Novus Biologicals SLC2A1 Antibodies
    Abcam antibodies for SLC2A1 
    Uscn Antibodies for SLC2A1
    ThermoFisher Antibody for SLC2A1

    Assay Products for SLC2A1: 
    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for SLC2A1
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for SLC2A1

    Protein Domains /
    Families
    for SLC2A1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SLC2A1 for domains           About GeneDecksing

    5/6 InterPro domains/families (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 families:
    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


    Function
    for SLC2A1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

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

    miRNA
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    Browse MicroRNA Expression Plasmids
    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 plasmid: SLC2A1 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SLC2A1 (see all 7)
    OriGene shRNA RFP: SLC2A1
    OriGene siRNA: SLC2A1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SLC2A1

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for SLC2A1

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SLC2A1 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, 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)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SLC2A1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC2A1 

    Cell Line
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    Search LifeMap BioReagents cell lines for SLC2A1

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC2A1

    Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005355glucose transmembrane transporter activity TAS9462754
    GO:0005515protein binding ----
    GO:0019900kinase binding IEA--
    GO:0022857transmembrane transporter activity ----
    GO:0022891substrate-specific transmembrane transporter activity ----


    SLC2A1 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Slc2a1tm1Dcdv for SLC2A1
         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


    Pathways & Interactions
    for SLC2A1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/25 super-pathways (see all 25) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1SLC-mediated transmembrane transport
    		SLC-mediated transmembrane transport1.00
    		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 Insulin Secretion
    		Regulation of Insulin Secretion1.00
    		Integration of energy metabolism0.74
    3Translocation of Influenza A virus nonstructural protein 1 (NS1A) into the nucleus
    		Glucose transport0.57
    		Hexose transport0.55
    4Vitamin B5 (pantothenate) metabolism
    		Metabolism of vitamins and cofactors0.21
    		Metabolism of water-soluble vitamins and cofactors0.21
    5Facilitative Na+-independent glucose transporters
    		Facilitative Na+-independent glucose transporters1.00

    Pathway sources
    See GeneCards unified pathways
    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
    IL-3 Signaling Pathway
    Glycolysis and Gluconeogenesis
    HIF-2-alpha transcription factor network
    Validated targets of C-MYC transcriptional activation

    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


    4         Kegg Pathways  (Kegg details for SLC2A1):
        Adipocytokine signaling pathway
    Bile secretion
    Pathways in cancer
    Renal cell carcinoma


    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): 5/14 biological process terms (GO ID links to tree view) (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006112energy reserve metabolic process TAS--
    GO:0006766vitamin metabolic process TAS--
    GO:0006767water-soluble vitamin metabolic process TAS--
    GO:0006970response to osmotic stress IEA--


    SLC2A1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SLC2A1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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--

    1 DrugBank Compound for SLC2A1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Etomidate-- 33125-97-2carrierinhibitor10927023

    10/103 Novoseek 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 

    Transcripts
    for SLC2A1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    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

    miRNA
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    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 plasmid: SLC2A1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SLC2A1 (see all 7)
    OriGene shRNA RFP: SLC2A1
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    Clone
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    Primer
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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 cDNA 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):

    BG741139 AL547677 AU133396 AU132299 BG679141 BP350860 BQ636117 AU130663 
    BQ945062 BM708424 CR618028 BU191110 AU131908 CR599895 R29580 BI490999 
    BQ685946 AA693415 CR601790 BG680895 AA326377 BQ574165 AW675550 BQ648521 

    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

    Expression
    for SLC2A1 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GAGACTCCTG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    SLC2A1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/21 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 21) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainChoroid PlexusMature Choroid Plexus CellsChoroid Plexus
    CartilageCervical Intervertebral DiscIntervertebral Disc Annulus Fibrosus CellsCartilage
    CartilageLumbar Intervertebral DiscIntervertebral Disc Annulus Fibrosus CellsCartilage
    CartilageSacral Intervertebral DiscIntervertebral Disc Annulus Fibrosus CellsCartilage
    CartilageThoracic Intervertebral DiscIntervertebral Disc Annulus Fibrosus CellsCartilage
    BrainBlood Brain BarrierAdult Endothelial CellsBlood Brain Barrier, Endothelium
    BrainBlood Brain BarrierEndothelial CellsBlood Brain Barrier, Endothelium
    BrainBlood Brain BarrierPostnatal Endothelial CellsBlood Brain Barrier, Endothelium
    BrainChoroid PlexusChoroid Plexus Progenitor CellsChoroid Plexus
    CartilageCervical Intervertebral DiscIntervertebral Disc Nucleus Pulposus CellsCartilage
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 6 LifeMap Cells 
    NameCategory
    Line H1 (WA01) (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    Endothelial cells (Derivation of blood-...)
    Mature brain microvascular endothelial cells (Derivation of blood-...)
    Brain microvascular endothelial cells (Derivation of blood-...)
    Endothelial cells and neural cells (Derivation of blood-...)
    N2/LSB induced-cells (Generation of midbra...)

    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

    Primer
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    In Situ
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    Orthologs
    for SLC2A1 gene

    (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 eukaryotes.

    Orthologs for SLC2A1 gene from 8/30 species (see all 30)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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 
    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 YBR241C1 hypothetical protein 44.64(n)
    31.7(a)    		   852543   NP_009800.1 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons SGB16
    AT1G673006
    (see all 4)    		 putative plastidic glucose transporter 2
    (see all 4)    		 24(a)
    24(a)
    (see all 4)    		 many ↔ many
    many ↔ many
    (see all 4)    		 1(30022260-30027443)
    1(25193704-25197089)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    (see all 3)    		 transporter family protein, putative, expressed
    (see all 3)    		 25(a)
    22(a)
    (see all 3)    		 many ↔ many
    many ↔ many
    (see all 3)    		 2(10074579-10081510)
    1(1842814-1848186)


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

    Paralogs
    for SLC2A1 gene

    (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  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

    SLC2A1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SLC2A1
    PGOHUM00000240199


    Genomic Variants
    for SLC2A1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/780 NCBI SNPs in SLC2A1 are shown (see all 780)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs803598121,2
    		Cpathogenic56376400(-) CATCAA/TTGCCC 2 N I mis10--------
    rs803598141,2
    		Cpathogenic56388590(-) CTTTGA/GCCGGT 2 D G mis10--------
    rs2020602091,2
    		C,pathogenic56388592(+) TTACCA/G/TGCCAA 3 R W syn1 mis10--------
    rs803598181,2
    		Cpathogenic56388873(-) TGGGCC/TGCTTC 2 R C mis10--------
    rs803598161,2
    		Cpathogenic56388874(-) GGGCCA/G/TCTTCA 3 H R L mis10--------
    rs1219097381,2
    		Cpathogenic56389945(-) AGAAGA/GAGGTC 2 K E mis11Minor allele frequency- G:0.00NA 4552
    rs803598431,2
    		Cpathogenic56390430(-) TGTCGC/G/TTGAGT 1 -- spd11CSA 1
    rs803598281,2
    		Cpathogenic56392476(-) ACCTAA/CTTCAA 2 * Y stg10--------
    rs803598291,2
    		Cpathogenic56392495(-) AGACTA/TAAGGC 2 K * stg10--------
    rs740683651,2
    		C,--41510861(+) TACATG/ATAGGT 1 -- int11Minor allele frequency- A:0.50WA 2

    HapMap Linkage Disequilibrium report for SLC2A1 (43391046 - 43424847 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SLC2A1: --
    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

    Disorders / Diseases
    for SLC2A1 gene

    (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
    SLC2A1 for disorders           About GeneDecksing

    OMIM gene information: 138140   
    OMIM disorders: 606777  612126  
    UniProtKB/Swiss-Prot: GTR1_HUMAN, P11166
  • Defects in SLC2A1 are the cause of GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777]; also known as
    • blood-brain barrier glucose transport defect. 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
  • Defects in SLC2A1 are the cause of GLUT1 deficiency syndrome type 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
  • Defects in SLC2A1 are the cause of 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
  • Defects in SLC2A1 are the cause of 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

    20/159 diseases for SLC2A1 (see all 159):    About MalaCards
    glucose transporter type 1 deficiency syndrome    necrobiosis lipoidica    early onset absence epilepsy    glucose transport defect
    myoclonic astatic epilepsy    pyruvate decarboxylase deficiency    choreoathetosis/spasticity    intraneural perineurioma
    alternating hemiplegia of childhood    diffuse large b-cell lymphoma    human t-cell leukemia virus type 1    absence epilepsy
    dendritic cell sarcoma    follicular dendritic cell sarcoma    arteriovenous malformation    choroid plexus papilloma
    choreoathetosis    acanthosis nigricans    paroxysmal choreoathetosis    childhood absence epilepsy

    7 diseases from the University of Copenhagen DISEASES database for SLC2A1:
    Capillary hemangioma     Perineurioma     Hyperglycemia     Carcinoma
    Diabetes mellitus     Microcephaly     Hemangioma

    10/95 Novoseek 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
    Glucose Transporter Type 1 Deficiency Syndrome

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

    Export disorders for SLC2A1 gene to outside databases

    Publications
    for SLC2A1 gene

    (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 1174):
    (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. 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)
    5. A novel polymorphism in the 5' flanking region of the glucose transporter (GLUT1) gene is strongly associated with diabetic nephropathy in patients with Type 1 diabetes mellitus. (PubMed id 15745834)1, 4, 9 Hodgkinson A.D....Demaine A.G. (2005)
    6. Role of GLUT1 gene in susceptibility to diabetic nephropathy in type 2 diabetes. (PubMed id 11168944)1, 4, 9 Grzeszczak W....Szydlowska I. (2001)
    7. Polymorphisms of the glucose transporter (GLUT1) gene are associated with diabetic nephropathy. (PubMed id 11231353)1, 4, 9 Hodgkinson A.D....Demaine A.G. (2001)
    8. Diabetic microvascular complications are not associated with two polymorphisms in the GLUT-1 and PC-1 genes regulating glucose metabolism in Caucasian type 1 diabetic patients. (PubMed id 11477169)1, 4, 9 Tarnow L....Pedersen O. (2001)
    9. GLUT1 mutations are a rare cause of familial idiopathi c generalized epilepsy. (PubMed id 22282645)1, 2 Striano P....Marini C. (2012)
    10. Paroxysmal choreoathetosis/spasticity (DYT9) is cause d by a GLUT1 defect. (PubMed id 21832227)1, 2 Weber Y.G....Lerche H. (2011)

    External Searches for SLC2A1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
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    Genome Databases showing SLC2A1 gene

    (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

    Other Databases showing SLC2A1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SLC2A1 gene

    (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

    Intellectual Property
    for SLC2A1 gene

    (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



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