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FLASH GENE
Symbol SLC2A1 contributors: mct/ - updated : 15-08-2009
HGNC name solute carrier family 2 (facilitated glucose transporter), member 1
HGNC id 11005
Corresponding disease
DYT18 dystonia 18
DYT9 dystonia 9, choreoathetosis/spasticity, episodic
SLC2A1 glucose transporter type 1 deficiency syndrome
Location 1p34.2      Physical location : 43.391.045 - 43.424.847
Synonym name
  • erythrocyte/HepG2-type glucose transporter 1
  • glucose transporter type 1, erythrocyte/brain
  • HepG2 glucose transporter
  • Synonym symbol(s) GLUT, GLUT1, MGC141895, MGC141896, PED, GLUT1DS
    DNA
    TYPE functioning gene
    STRUCTURE 33.80 kb     10 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site
    text structure
  • two ERK1/2-responsive transcription factors (ELk1 and SRF) mediating FGF21-induced SLC2A1 expression by binding to a highly conserved ETS and SRE cis-element located between &
  • 8722;3128 and &
    8722;3105 of the promoter
    MAPPING cloned Y linked Y status confirmed
    Physical map
    LOC391031 1 similar to Heterogeneous nuclear ribonucleoprotein F (hnRNP F) GUCA2B 1p35-p34 guanylate cyclase activator 2B (uroguanylin) GUCA2A 1p35-p34 guanylate cyclase activator 2A (guanylin) KIAA1041 1p35-p32 guanylate cyclase activator 2A (guanylin) MGC47816 1p34.1 hypothetical protein MGC47816 ZMYND12 1p34.1 zinc finger, MYND domain containing 12 FLJ11838 1p34.1 hypothetical protein FLJ11838 FLJ20972 1p34.1 hypothetical protein FLJ20972 TMSL1 1 thymosin-like 1 PPIH 1p34.1 peptidyl prolyl isomerase H (cyclophilin H) NSEP1 1p34 nuclease sensitive element binding protein 1 CLDN19 1p33-34.2 claudin 19 LEPRE1 1p34.1 leucine proline-enriched proteoglycan (leprecan) 1 MGC955 1p34.1 hypothetical protein MGC955 LOC388624 1 LOC388624 ERMAP 1p34.1 erythroblast membrane-associated protein LOC51058 1p34.1 hypothetical protein LOC51058 LOC391032 1 similar to EVIN1; expressed in activated T/LAK lymphocytes LOC391033 1 similar to Makorin 1 LOC343515 1p34.1 similar to ATPase, H+ transporting, lysosomal 31kD, V1 subunit E isoform 1; V-ATPase, subunit E; H(+)-transporting two-sector ATPase, 31kDa subunit; H+-transporting ATP synthase chain E, vacuolar; vacuolar proton pump, 31-kd subunit SLC2A1 1p35-p31.3 solute carrier family 2 (facilitated glucose transporter), member 1 EBNA1BP2 1p35-p33 EBNA1 binding protein 2 FLJ32000 1p34.1 hypothetical protein FLJ32000 LOC256339 1p34.1 similar to ENSANGP00000010412 MGC17299 1p34.1 hypothetical protein MGC17299 MGC52423 1p34.1 hypothetical protein MGC52423 TIE 1p34 tyrosine kinase with immunoglobulin and epidermal growth factor homology domains CDC20 9q13-q21 CDC20 cell division cycle 20 homolog (S. cerevisiae) MPL 1p34 myeloproliferative leukemia virus oncogene ELOVL1 1p34.1 elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 1 MED8 1p34.1 mediator of RNA polymerase II transcription, subunit 8 homolog (yeast) LOC388625 1 similar to FLJ00408 protein HT036 1p34.1 hypothetical protein HT036 PTPRF 1p34 protein tyrosine phosphatase, receptor type, F JMJD2 1p34.1 jumonji domain containing 2 SIAT6 1p34.1 sialyltransferase 6 (N-acetyllacosaminide alpha 2,3-sialyltransferase)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 3687 - 492 - -
    EXPRESSION
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly
     mouthtongue  highly
    Reproductivefemale systemovary  highly
    Respiratoryrespiratory tractlarynx  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticerthrocyte
    Cardiovascularendothelial cell
    Skin/Tegumentkeratinocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text retina, testis, placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • twelve putative transmembrane segments
  • intracellular N and C termini in the cytosol
  • a large extracellular loop with a glycosylation site between TM1 and 2, a small and a large intracellular loops, respectively between TM2 and 3 and TM8 and 9, both with the conserved RXGRR motif
  • conjugated GlycoP
    HOMOLOGY
    interspecies homolog to murine Slc2a1 (96.3pc)
    homolog to rattus Slc2a1 (97.8pc)
    Homologene
    FAMILY
  • major facilitator superfamily
  • sugar transporter family
  • glucose transporter subfamily
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
    basic FUNCTION
  • facilitating glucose transporter, major glucose transporter in the blood-brain barrier
  • can transport a wide range of aldoses including both pentoses and hexoses
  • receptor for HTLV
  • may be involved in embryo implantation
  • is involved in a relatively early phase of pancreatic carcinogenesis
  • may play a critical role in controlling glucose homeostasis of adipose tissue in adipose-specific SCD-deficient conditions
  • main glucose transporter in the mammalian blood-brain barrier
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS facilitated diffusion transport
    text glucose transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    induced by FGF21 induced GLUT1 expression through transcriptional activation
    Other
  • the PDZ-binding motif is critical to promote maximal cytokine-stimulated SLC2A1 cell surface localization and prevent lysosomal degradation in absence of growth factor
  • GIPC1 promotes SLC2A1 trafficking to the cell surface
  • phosphorylated upon DNA damage, probably by ATM or ATR
    ASSOCIATED DISORDERS
    corresponding disease(s) SLC2A1 , DYT18 , DYT9
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in breast carcinoma with poor prognosis
             
    mutations have been found in a family with paroxysmal exertion-induced dyskinesia
    tumoral     --over  
    highly expressed in HCC tissues and cell lines, promoting tumorigenesis
    tumoral     --over  
    in oral squamous cell carcinomas with poor prognosis
    tumoral   LOH    
    is significantly reduced in low-grade oligodendroglial tumors harboring LOH 1p
    Susceptibility to diabetic nephropathy
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerdigestivepancreas
    flavonoid apigenin inhibits SLC2A1 expression in pancreatic cancer cells
    ANIMAL & CELL MODELS