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FLASH GENE
Symbol SLC2A1 contributors: mct/ - updated : 15-08-2018
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
    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   
    Muscularsmoothvessel   Homo sapiens
    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
  • evidence for SLC2A9 and SLC2A12 expression in vascular smooth muscle cells (VSMCs) in conjunction with the previously identified SLC2A1 and SLC2A10
  • SLC2A1 and SLC2A8 both transporters are involved in glucose uptake into cis-Golgi, supporting lactose synthesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS facilitated diffusion transport
    text glucose transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • PPARD directly regulated neutral amino acid transporter SLC1A5 and SLC2A1 gene transcription, leading to uptake of glucose and amino acid, activation of MTOR signaling and tumor progression
  • TBC1D5 shuttling to autophagosomes during metabolic stress facilitates retromer-dependent SLC2A1 trafficking
  • CYGB suppressed key glucose metabolism factors including SLC2A1 and HK2 in TP53-dependent and -independent manners
  • cell & other
    REGULATION
    activated by heat shock (40°C-42&
    8239;°C) that increased GSH levels, expression of glucose transporter SLC2A1, and enzymatic activity and expression of G6PD, the rate-limiting enzyme in the pentose cycle
    induced by FGF21 induced GLUT1 expression through transcriptional activation
    TRAF3 deficiency that led to induction of two proteins important for glucose metabolism, SLC2A1 and HK2
    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