Identification and characterization of the human and mouse SLC19A3 gene: Anovel member of the reduced folate family of micronutrient transporter genes

We report here the isolation, characterization, and chromosomal localizatio n of the genes encoding the human and corresponding murine orthologue of so lute carrier family 19A member 3 (SLC19A3). Human SLC19A3 encodes a 496-ami no-acid residue protein with a predicted molecular weight of 56 kDa that sh ares sequence similarity to both SLC19A1 (reduced folate transporter (RFC-1 )) and SLC19A2 (high affinity thiamine transporter (THTR-1)). Like the SLC1 9A1 and SLC19A2 proteins, SLC19A3 contains 12 putative transmembrane domain s. The human SLC19A3 gene is widely expressed, with the most abundant expre ssion observed in placenta, kidney, and liver, and has been mapped to chrom osome 2q37, The murine SLC19A3 gene maps to central chromosome 1 in the reg ion defined as a seizure susceptibility locus in the DBA/2J mouse strain. T his article describes the identification of SLC19A3, a gene encoding a nove l solute transporter, and establishes murine SLC19A3 as a candidate gene fo r seizures in the DBA/2Jmouse. (C) 2000 Academic Press.