Gene Symbol: Slc29a3
Description: solute carrier family 29 (nucleoside transporters), member 3
Alias: 4933435C21Rik, AW987637, Ent3, equilibrative nucleoside transporter 3, mENT3, solute carrier family 29 member 3
Baldwin S, Yao S, Hyde R, Ng A, Foppolo S, Barnes K, et al
. Functional characterization of novel human and mouse equilibrative nucleoside transporters (hENT3 and mENT3) located in intracellular membranes. J Biol Chem. 2005;280:15880-7 pubmed
..The 475-residue human and mouse proteins, designated hENT3 and mENT3, respectively, are 73% identical in amino acid sequence and possess long N-terminal hydrophilic domains that bear ..
Hyde R, Cass C, Young J, Baldwin S. The ENT family of eukaryote nucleoside and nucleobase transporters: recent advances in the investigation of structure/function relationships and the identification of novel isoforms. Mol Membr Biol. 2001;18:53-63 pubmed
..This paper summarizes current knowledge of the family and reports on the identification of a novel mammalian ENT isoform, designated ENT3, from mouse and human tissues.
Acimovic Y, Coe I. Molecular evolution of the equilibrative nucleoside transporter family: identification of novel family members in prokaryotes and eukaryotes. Mol Biol Evol. 2002;19:2199-210 pubmed
..Finally, we propose an evolutionary history for the ENT family which clarifies the origin(s) of multiple isoforms in different taxa. ..
Morgan N, Morris M, Cangul H, Gleeson D, Straatman Iwanowska A, Davies N, et al
. Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease. PLoS Genet. 2010;6:e1000833 pubmed publisher
..1. Mutation analysis of candidate genes within the target interval identified biallelic germline mutations in SLC29A3 in the FHC kindred and in two families reported to have familial RDD...
Hsu C, Lin W, Seshasayee D, Chen Y, Ding X, Lin Z, et al
. Equilibrative nucleoside transporter 3 deficiency perturbs lysosome function and macrophage homeostasis. Science. 2012;335:89-92 pubmed publisher
..Here, we found that mice lacking the equilibrative nucleoside transporter 3 (ENT3) developed a spontaneous and progressive macrophage-dominated histiocytosis...
Campeau P, Lu J, Sule G, Jiang M, Bae Y, Madan S, et al
. Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis. Hum Mol Genet. 2012;21:4904-9 pubmed publisher
..In two patients with DSS, we identified homozygous or compound heterozygous missense mutations in SLC29A3 by whole-exome sequencing...
Cheng X, Klaassen C. Tissue distribution, ontogeny, and hormonal regulation of xenobiotic transporters in mouse kidneys. Drug Metab Dispos. 2009;37:2178-85 pubmed publisher
..cancer resistance protein, concentrative nucleoside transporter 1, equilibrative nucleoside transporter [Ent] 2, Ent3, sodium-phosphate cotransporter [Npt] 1, Npt2a, Npt2b, Npt2c, organic anion transporter [Oat] 5, organic anion-..