title: Identification and characterization of the human and mouse SLC19A3 gene: a novel member of the reduced folate family of micronutrient transporter genes.
abstract: We report here the isolation, characterization, and chromosomal localization of the genes encoding the human and corresponding murine orthologue of solute carrier family 19A member 3 (SLC19A3). Human SLC19A3 encodes a 496-amino-acid residue protein with a predicted molecular weight of 56 kDa that shares sequence similarity to both SLC19A1 (reduced folate transporter (RFC-1)) and SLC19A2 (high affinity thiamine transporter (THTR-1)). Like the SLC19A1 and SLC19A2 proteins, SLC19A3 contains 12 putative transmembrane domains. The human SLC19A3 gene is widely expressed, with the most abundant expression observed in placenta, kidney, and liver, and has been mapped to chromosome 2q37. The murine SLC19A3 gene maps to central chromosome 1 in the region defined as a seizure susceptibility locus in the DBA/2J mouse strain. This article describes the identification of SLC19A3, a gene encoding a novel solute transporter, and establishes murine SLC19A3 as a candidate gene for seizures in the DBA/2J mouse.
authors.affiliation: Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha, Nebraska 98198-5455, USA. jdeudy@unmc.edu
authors.forename: J D
authors.initials: JD
authors.lastname: Eudy
authors.forename: O
authors.initials: O
authors.lastname: Spiegelstein
authors.forename: R C
authors.initials: RC
authors.lastname: Barber
authors.forename: B J
authors.initials: BJ
authors.lastname: Wlodarczyk
authors.forename: J
authors.initials: J
authors.lastname: Talbot
authors.forename: R H
authors.initials: RH
authors.lastname: Finnell
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D002352:Carrier Proteins / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism*; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D003001:Cloning, Molecular; D058973:Folate Receptors, GPI-Anchored; D005492:Folic Acid / Q000378:metabolism*; D020869:Gene Expression Profiling; D006801:Humans; D008126:Lod Score; D026901:Membrane Transport Proteins; D051379:Mice; D008969:Molecular Sequence Data; D010802:Phylogeny; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D021101:Radiation Hybrid Mapping; D011956:Receptors, Cell Surface; D012640:Seizures / Q000235:genetics; D016415:Sequence Alignment
chemical_list: D002352:Carrier Proteins; D058973:Folate Receptors, GPI-Anchored; D026901:Membrane Transport Proteins; D012333:RNA, Messenger; D011956:Receptors, Cell Surface; C492290:Slc19a3 protein, mouse; D005492:Folic Acid