ID:GTR1_HUMAN DESCRIPTION: RecName: Full=Solute carrier family 2, facilitated glucose transporter member 1; AltName: Full=Glucose transporter type 1, erythrocyte/brain; Short=GLUT-1; AltName: Full=HepG2 glucose transporter; 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. INTERACTION: Self; NbExp=3; IntAct=EBI-717153, EBI-717153; 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. TISSUE SPECIFICITY: Expressed at variable levels in many human tissues. PTM: Phosphorylated upon DNA damage, probably by ATM or ATR. DISEASE: 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. DISEASE: 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. SIMILARITY: Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC2A1"; WEB RESOURCE: Name=Wikipedia; Note=GLUT1 entry; URL="http://en.wikipedia.org/wiki/GLUT1";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P11166
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0005989 lactose biosynthetic process GO:0006970 response to osmotic stress GO:0007565 female pregnancy GO:0008643 carbohydrate transport GO:0010827 regulation of glucose transport GO:0019852 L-ascorbic acid metabolic process GO:0021987 cerebral cortex development GO:0032868 response to insulin GO:0042149 cellular response to glucose starvation GO:0042908 xenobiotic transport GO:0050796 regulation of insulin secretion GO:0055085 transmembrane transport GO:0065003 macromolecular complex assembly GO:0070837 dehydroascorbic acid transport GO:0071260 cellular response to mechanical stimulus GO:0071474 cellular hyperosmotic response GO:1904016 response to Thyroglobulin triiodothyronine GO:1904659 glucose transmembrane transport
BioCarta from NCI Cancer Genome Anatomy Project h_vitCBPathway - Vitamin C in the Brain
Reactome (by CSHL, EBI, and GO)
Protein P11166 (Reactome details) participates in the following event(s):
R-HSA-450088 GLUT1 tetramer binds 4xATP R-HSA-450092 GLUT1:ATP tetramer dissociates to GLUT1 tetramer and 4xATP R-HSA-5339524 GLUT1 (SLC2A1) tetramer transports Glc from extracellular region to cytosol R-HSA-198818 GLUT1/3 transports extracellular DHvitC to cytosol R-HSA-5653873 SLC2A1 tetramer transports Glc from cytosol to Golgi lumen R-HSA-499981 Transport of Extracellular Glucose to the Cytosol by GLUT1 and GLUT2 R-HSA-189200 Cellular hexose transport R-HSA-425407 SLC-mediated transmembrane transport R-HSA-196836 Vitamin C (ascorbate) metabolism R-HSA-5653890 Lactose synthesis R-HSA-422356 Regulation of insulin secretion R-HSA-382551 Transport of small molecules R-HSA-196849 Metabolism of water-soluble vitamins and cofactors R-HSA-71387 Metabolism of carbohydrates R-HSA-163685 Energy Metabolism R-HSA-196854 Metabolism of vitamins and cofactors R-HSA-1430728 Metabolism
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
