GLUT1

Glucose transporter 1 (or GLUT1), also known as solute carrier family 2, facilitated glucose transporter member 1 (SLC2A1), is a

GLUT1 was the first glucose transporter to be characterized. GLUT 1 is highly conserved.^[1] GLUT 1 of humans and mice have 98% identity at the amino acid level. GLUT 1 is encoded by the SLC2 gene and is one of a family of 14 genes encoding GLUT proteins.^[6]

Structure

The SLC2A1 gene is located on the p arm of

GLUT1 is responsible for the low level of basal glucose uptake required to sustain respiration in all cells. Expression levels of GLUT1 in cell membranes are increased by reduced glucose levels and decreased by increased glucose levels.^[citation needed]

GLUT1 is also a major receptor for uptake of Vitamin C as well as glucose, especially in non vitamin C producing mammals as part of an adaptation to compensate by participating in a Vitamin C recycling process. In mammals that do produce Vitamin C, GLUT4 is often expressed instead of GLUT1.^[12]

Tissue distribution

GLUT1 expression occurs in almost all tissues, with the degree of expression typically correlating with the rate of cellular glucose metabolism. In the adult it is expressed at highest levels in

Some mutations, particularly ASN411SER, ARG458TRP, ARG223PRO and ARG232CYS, have been shown to cause idiopathic generalized epilepsy 12 (EIG12), a disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Seizure types include juvenile myoclonic seizures, absence seizures, and generalized tonic-clonic seizures. In some EIG12 patients seizures may remit with age.^[4][5] Inheritance of this disease is autosomal dominant.^[10]

Dystonia 9

Another mutation, ARG212CYS, has been shown to cause Dystonia 9 (DYT9), an autosomal dominant neurologic disorder characterized by childhood onset of paroxysmal choreoathetosis and progressive spastic paraplegia. Most patients show some degree of cognitive impairment. Other variable features may include seizures, migraine headaches, and ataxia.^[4][5]

Stomatin-deficient Cryohydrocytosis

Certain mutations, like GLY286ASP and a 3-bp deletion in ILE435/436, cause Stomatin-deficient cryohydrocytosis with neurologic defects (SDCHCN), a rare form of stomatocytosis characterized by episodic hemolytic anemia, cold-induced red cells cation leak, erratic hyperkalemia, neonatal hyperbilirubinemia, hepatosplenomegaly, cataracts, seizures, mental retardation, and movement disorder.^[4][5] Inheritance of this disease is autosomal dominant.^[10]

Role as a Receptor for HTLV

GLUT1 is also a receptor used by the

Glut1 has also been demonstrated as a powerful histochemical marker for hemangioma of infancy^[16]

Interactions

GLUT1 has been shown to

GLUT1 has two significant types in the brain: 45-kDa and 55-kDa. GLUT1 45-kDa is present in astroglia and neurons. GLUT1 55-kDa is present in the endothelial cells of the brain vasculature and is responsible for glucose transport across the blood–brain barrier; its deficiency causes a low level of glucose in CSF (less than 60 mg/dl) which may elicit seizures in deficient individuals.^[citation needed]

Recently a GLUT1 inhibitor DERL3 has been described and is often methylated in colorectal cancer. In this cancer, DERL3 methylations seem to mediate the Warburg effect.^[21]

Inhibitors

Fasentin is a small molecule inhibitor of the intracellular domain of GLUT1 preventing glucose uptake.^[22]

Recently, a new more selective GLUT1 inhibitor, Bay-876, has been described.^[23]

Interactive pathway map

Click on genes, proteins and metabolites below to link to respective articles.^{[§ 1]}

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|alt=Glycolysis and Gluconeogenesis edit]]

Glycolysis and Gluconeogenesis edit

1. ^ The interactive pathway map can be edited at WikiPathways: "GlycolysisGluconeogenesis_WP534".

References