Gene Symbol: Slc3a1
Description: solute carrier family 3, member 1
Alias: D2H, NBAT, NTAA, RBAT, neutral and basic amino acid transport protein rBAT, b(0,+)-type amino acid transport protein
- A mouse model for cystinuria type IT Peters
Ingenium Pharmaceuticals AG, Fraunhoferstr 13, 82152 Martinsried, Germany
Hum Mol Genet 12:2109-20. 2003..cloning of the causative mutation identified a missense mutation in the solute carrier family 3 member 1 gene (Slc3a1) leading to an amino acid exchange D140G in the extracellular domain of the rBAT protein...
- An animal model of type A cystinuria due to spontaneous mutation in 129S2/SvPasCrl miceMarine Livrozet
Sorbonne Universités, UPMC Univ Paris 06, UMR S 702, Paris, France INSERM, UMR S 702, Paris, France
PLoS ONE 9:e102700. 2014Cystinuria is an autosomal recessive disease caused by the mutation of either SLC3A1 gene encoding for rBAT (type A cystinuria) or SLC7A9 gene encoding for b0,+AT (type B cystinuria)...
- Novel cystine transporter in renal proximal tubule identified as a missing partner of cystinuria-related plasma membrane protein rBAT/SLC3A1Shushi Nagamori
Department of Bio System Pharmacology, Graduate School of Medicine, Osaka University, Suita, Osaka 565 0871, Japan
Proc Natl Acad Sci U S A 113:775-80. 2016..Among them, the heterodimer of a membrane protein b(0,+)AT/SLC7A9 and its auxiliary subunit rBAT/SLC3A1 is responsible for cystine reabsorption in renal proximal tubules...
- Identification and functional characterization of a novel low affinity aromatic-preferring amino acid transporter (arpAT). One of the few proteins silenced during primate evolutionEsperanza Fernandez
Department of Biochemistry and Molecular Biology, Faculty of Biology, and Barcelona Science Park, University of Barcelona, E 08028 Barcelona, Spain
J Biol Chem 280:19364-72. 2005..Co-expression of arpAT with the heavy subunits rBAT or 4F2hc elicited a sodium-independent alanine transport activity in HeLa cells...
- Patterned expression of ion channel genes in mouse dorsal raphe nucleus determined with the Allen Mouse Brain AtlasJ Scott Templin
Department of Anesthesiology, Perioperative, and Pain Medicine, Children s Hospital, Boston, 300 Longwood Ave, Boston, MA 02115, USA
Brain Res 1457:1-12. 2012..The identified genes likely contribute to unique excitable properties of different groups of neurons in the DR and may include novel pharmacologic targets for affective disorders...
- Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystineM J Calonge
Departament de Genética Molecular IRO, Hospital Duran i Reynals, Barcelona, Spain
Nat Genet 6:420-5. 1994..Six missense mutations in the human rBAT gene, which is involved in high-affinity transport of cystine and dibasic amino acids in kidney and intestine, ..
- Cloning and chromosomal localization of a human kidney cDNA involved in cystine, dibasic, and neutral amino acid transportW S Lee
Department of Medicine, Brigham and Women s Hospital, Boston, Massachusetts 02115
J Clin Invest 91:1959-63. 1993..amino acid protein that is 80% identical to the rat D2 amino acid sequence and 86% to that of the rabbit homologue rBAT. Microinjection of in vitro transcribed D2H cRNA into Xenopus oocytes induced uptake of cystine as well as dibasic ..
- Cloning, functional expression and dietary regulation of the mouse neutral and basic amino acid transporter (NBAT)H Segawa
Department of Clinical Nutrition, School of Medicine, Tokushima University, Kuramoto Cho 3, Tokushima 770, Japan
Biochem J 328:657-64. 1997The Na+-independent dibasic and neutral amino acid transporter NBAT is among the least hydrophobic of mammalian amino acid transporters...
- Canine cystinuria: polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation in cystinuric Newfoundland dogsP S Henthorn
Center for Comparative Medical Genetics, Laboratory of Biochemistry, University of Pennsylvania School of Veterinary Medicine, Philadelphia 19104 6010, USA
Hum Genet 107:295-303. 2000..humans, can be distinguished clinically and biochemically, and have been associated with mutations in the SLC3A1 (rBAT) and SLC7A9 genes, respectively...
- rBAT-b(0,+)AT heterodimer is the main apical reabsorption system for cystine in the kidneyEsperanza Fernandez
Departament de Bioquimica i Biologia Molecular, Facultat de Biologia, Universitat de Barcelona, Barcelona 08028, Spain
Am J Physiol Renal Physiol 283:F540-8. 2002Mutations in the rBAT and b(0,+)AT genes cause type I and non-type I cystinuria, respectively...
- Molecular Analysis of a Canine CNS Developmental DefectPaula Henthorn; Fiscal Year: 2005....
- ETIOLOGY AND DEVELOPMENT OF CONGENITAL HEART DISEASEPaula Henthorn; Fiscal Year: 2006..unreadable] [unreadable]..