Equilibrative nucleoside transporter 1

Equilibrative nucleoside transporter 1 (ENT1) is a is_associated_with::protein that in humans is encoded by the SLC29A1 is_associated_with::gene. Multiple alternatively spliced variants, encoding the same protein, have been found for this gene.

Function
This gene is a member of the equilibrative nucleoside transporter family. The gene encodes a transmembrane is_associated_with::glycoprotein that localizes to the plasma and mitochondrial membranes and mediates the cellular uptake of is_associated_with::nucleosides from the surrounding medium. The protein is categorized as an equilibrative (as opposed to concentrative) transporter that is sensitive to inhibition by nitrobenzylmercaptopurine ribonucleoside (NBMPR). Nucleoside transporters are required for nucleotide synthesis in cells that lack de novo nucleoside synthesis pathways, and are also necessary for the uptake of cytotoxic nucleosides used for cancer and viral chemotherapies.

Genomics
The gene encoding this protein is located on the short arm of is_associated_with::chromosome 6 at 6p21.2-p21.1 on the Watson (plus) strand. It is 14,647 bases in length. The encoded protein has 456 amino acid residues with 11 predicted transmembrane domains. The predicted molecular weight is 50.219 kiloDaltons. The protein is post translationally glycosylated and expressed in all tissue with the apparent exception of is_associated_with::skeletal muscle. The highest levels are found in the is_associated_with::liver, is_associated_with::heart, is_associated_with::testis, is_associated_with::spleen, is_associated_with::lung, is_associated_with::kidney and is_associated_with::brain.

Clinical
Mutations in this gene have been associated with is_associated_with::H syndrome, pigmented is_associated_with::hypertrichosis with insulin dependent diabetes and is_associated_with::Faisalabad histiocytosis.