SLC2A1

Solute carrier family 2, facilitated glucose transporter member 1 ;
Glucose transporter type 1, erythrocyte/brain ;
GLUT-1 ;
HepG2 glucose transporter ;

disease:Defects in SLC2A1 are the cause of autosomal dominant GLUT1 deficiency syndrome [MIM:606777]; also called blood-brain barrier glucose transport defect. This disease causes a defect in glucose transport across the blood-brain barrier. It is characterized by infantile seizures, delayed development, and acquired microcephaly.,disease:Defects in SLC2A1 are the cause of dystonia type 18 (DYT18) [MIM:612126]. DYT18 is an exercise-induced paroxysmal dystonia/dyskinesia. Dystonia is defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT18 is characterized by attacks of involuntary movements triggered by certain stimuli such as sudden movement or prolonged exercise. In some patients involuntary exertion-induced dystonic, choreoathetotic, and ballistic movements may be associated with macrocytic hemolytic anemia.,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.,online information:GLUT1 entry,PTM:Phosphorylated upon DNA damage, probably by ATM or ATR.,similarity:Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily.,subcellular location: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.,

response to osmotic stress, carbohydrate transport, hexose transport, response to abiotic stimulus, monosaccharide transport, glucose transport, xenobiotic transport, transmembrane transport,

Cell membrane ; Multi-pass membrane protein . Melanosome . Photoreceptor inner segment . Localizes primarily at the cell surface (PubMed:18245775, PubMed:19449892, PubMed:23219802, PubMed:25982116, PubMed:24847886). Identified by mass spectrometry in melanosome fractions from stage I to stage IV (PubMed:17081065). .

Detected in erythrocytes (at protein level). Expressed at variable levels in many human tissues.