SLC2A1 Antibody – Mouse Monoclonal

This gene encodes a major glucose transporter in the mammalian blood-brain barrier. The encoded protein is found primarily in the cell membrane and on the cell surface, where it can also function as a receptor for human T-cell leukemia virus (HTLV) I and II. Mutations in this gene have been found in a family with paroxysmal exertion-induced dyskinesia. [provided by RefSeq, Apr 2013]

GLUT1: an integral membrane protein that plays an important role in the glycolytic pathway by serving as a uniporter for glucose. One of 13 members of the human equilibrative glucose transport protein family. Transports a wide range of aldoses, including both pentoses and hexoses, and dehydroascorbic acid. Shown to transport water against an osmotic gradient. A receptor for the Human T-cell Leukemia virus (HTLV). Plays a role in the constitutive or basal uptake of glucose. Expressed at highest levels in proliferating cells of the early developing embryo, cells forming the blood tissue barriers, in human erythrocytes, astrocytes and in cardiac muscle. GLUT1 and GLUT3 are both essential for normal embryonic development. Is practically the only member of the GLUT family expressed on human red blood cells, where it comprises 10 - 20% of the integral membrane protein content. Several glycolytic proteins including the transporters GLUT1 and GLUT3, as well as multiple enzymes including HK2, PFKL, LDHA, ALDOA, ALDOC, PGK1, ENO1, PKM2, CA9 and PFKFB3 are induced in cancer cells by HIF-1 alpha. Polyps from Peutz-Jeghers patients exhibit up-regulated mTORC1 signaling, HIF-1alpha, and GLUT1 levels. Defects in GLUT1 are the cause of autosomal dominant GLUT1 deficiency syndrome, a blood-brain barrier glucose transport defect characterized by infantile seizures, delayed development, and acquired microcephaly. Defects also cause dystonia type 18, an exercise-induced paroxysmal dystonia/dyskinesia. Cytochalasin B binds to its inner surface, inhibiting its glucose transport activity with an IC50 of 0.44 uM.

Protein type: Transporter; Transporter, SLC family; Membrane protein, multi-pass; Membrane protein, integral

Chromosomal Location of Human Ortholog: 1p34.2

Cellular Component: apical plasma membrane; basolateral plasma membrane; caveola; cortical actin cytoskeleton; cytosol; female pronucleus; Golgi membrane; integral to plasma membrane; intercellular junction; melanosome; membrane; midbody; plasma membrane

Molecular Function: D-glucose transmembrane transporter activity; dehydroascorbic acid transporter activity; glucose transmembrane transporter activity; identical protein binding; kinase binding; protein binding; protein self-association; xenobiotic transporter activity

Biological Process: cellular response to glucose starvation; glucose transport; L-ascorbic acid metabolic process; lactose biosynthetic process; protein complex assembly; regulation of insulin secretion; response to osmotic stress; xenobiotic transport

Disease: Dystonia 9; Epilepsy, Idiopathic Generalized, Susceptibility To, 12; Glut1 Deficiency Syndrome 1; Glut1 Deficiency Syndrome 2