SLC2A1 Antibody – Rabbit Polyclonal

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, SLC family; Membrane protein, integral; Transporter; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 1p34.2

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

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

Biological Process: cellular response to glucose starvation; vitamin metabolic process; hexose transport; carbohydrate metabolic process; energy reserve metabolic process; L-ascorbic acid metabolic process; xenobiotic transport; protein complex assembly; pathogenesis; glucose transport; response to osmotic stress; transmembrane transport; regulation of insulin secretion; water-soluble vitamin metabolic process

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