Aliases for SLC29A3 Gene
External Ids for SLC29A3 Gene
This gene encodes a nucleoside transporter. The encoded protein plays a role in cellular uptake of nucleosides, nucleobases, and their related analogs. Mutations in this gene have been associated with H syndrome, which is characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism. A related disorder, PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus), has also been associated with mutations at this locus. Alternatively spliced transcript variants have been described.[provided by RefSeq, Mar 2010]
GeneCards Summary for SLC29A3 Gene
SLC29A3 (Solute Carrier Family 29 (Equilibrative Nucleoside Transporter), Member 3) is a Protein Coding gene. Diseases associated with SLC29A3 include histiocytosis-lymphadenopathy plus syndrome and dysosteosclerosis. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include nucleoside transmembrane transporter activity. An important paralog of this gene is SLC29A2.
UniProtKB/Swiss-Prot for SLC29A3 Gene
Mediates both influx and efflux of nucleosides across the membrane (equilibrative transporter). Mediates transport of adenine, adenosine and uridine, as well as several nucleoside analog drugs, such as anticancer and antiviral agents, including cladribine, cordycepin, tubercidin and AZT. Does not transport hypoxanthine.
Nucleoside transporters are divided into two families; the Na+-dependent solute carrier family 28 (SLC28) and the equilibrative solute carrier family 29 (SLC29). SLC28 family transporters (CNT1-3) display subtype-selective expression patterns; CNT1 is localized primarily to epithelial tissue whereas CNT2 and CNT3 have more widespread distributions. SLC29 family transporters (ENT1-4) are glycosylated proteins, localized to the plasma and mitochondrial membranes. They are expressed in the heart, brain, mammary gland, erythrocytes and placenta, and also in fetal liver and spleen. They mediate nucleoside influx and efflux and exhibit highest affinity for adenosine. CNT and ENT transporters play critical roles in nucleoside salvage pathways where they mediate the first step of nucleotide biosynthesis. In addition, these transporters work in concert to terminate adenosine signaling and are vital determinants in the response to a variety of anticancer and antiviral treatments, as they modulate the entry of these nucleoside analogs into target tissues.