solute carrier family 2 member 1; glucose transporter type 1, erythrocyte/brain; GLUT-1; hepG2 glucose transporter (SLC2A1, GLUT1)

Function

• facilitative glucose transporter
• may be responsible for constitutive or basal glucose uptake
• very broad substrate specificity; can transport a wide range of aldoses including both pentoses & hexoses
• phosphorylated upon DNA damage, probably by ATM or ATR
• facilitates glucose uptake at glucose concentrations below normal fasting range (3-6 mM)

Structure

• belongs to the major facilitator superfamily, sugar transporter (TC 2.A.1.1) family, glucose transporter subfamily

Compartment

• cell membrane
• melanosome
• localizes primarily at the cell surface (putative)

Expression

• expressed at variable levels in many human tissues
• expressed in brain

Pathology

• defects in SLC2A1 are the cause of autosomal dominant GLUT1 deficiency syndrome

Pharmacology

• triheptanoin (Dojolvi) used experimentally to treat GLUT1 deficiency syndrome

More general terms

• glucose transporter
• solute carrier family 2 (SLC2, SLC2A)
• phosphoprotein

Database

• UniProt: http://www.uniprot.org/uniprot/P11166.html
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:6513
• OMIM: https://mirror.omim.org/entry/138140
• OMIM: https://mirror.omim.org/entry/606777