Slc3a1

Summary

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
Species: mouse

Top Publications

  1. ncbi A mouse model for cystinuria type I
    T Peters
    Ingenium Pharmaceuticals AG, Fraunhoferstr 13, 82152 Martinsried, Germany
    Hum Mol Genet 12:2109-20. 2003
  2. pmc An animal model of type A cystinuria due to spontaneous mutation in 129S2/SvPasCrl mice
    Marine Livrozet
    Sorbonne Universités, UPMC Univ Paris 06, UMR S 702, Paris, France INSERM, UMR S 702, Paris, France
    PLoS ONE 9:e102700. 2014
  3. pmc Novel cystine transporter in renal proximal tubule identified as a missing partner of cystinuria-related plasma membrane protein rBAT/SLC3A1
    Shushi 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
  4. ncbi Identification and functional characterization of a novel low affinity aromatic-preferring amino acid transporter (arpAT). One of the few proteins silenced during primate evolution
    Esperanza 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
  5. pmc Patterned expression of ion channel genes in mouse dorsal raphe nucleus determined with the Allen Mouse Brain Atlas
    J 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
  6. ncbi Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine
    M J Calonge
    Departament de Genética Molecular IRO, Hospital Duran i Reynals, Barcelona, Spain
    Nat Genet 6:420-5. 1994
  7. pmc Cloning and chromosomal localization of a human kidney cDNA involved in cystine, dibasic, and neutral amino acid transport
    W S Lee
    Department of Medicine, Brigham and Women s Hospital, Boston, Massachusetts 02115
    J Clin Invest 91:1959-63. 1993
  8. pmc 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. 1997
  9. ncbi Canine cystinuria: polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation in cystinuric Newfoundland dogs
    P 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
  10. ncbi rBAT-b(0,+)AT heterodimer is the main apical reabsorption system for cystine in the kidney
    Esperanza Fernandez
    Departament de Bioquimica i Biologia Molecular, Facultat de Biologia, Universitat de Barcelona, Barcelona 08028, Spain
    Am J Physiol Renal Physiol 283:F540-8. 2002

Research Grants

Scientific Experts

  • Paula Henthorn
  • Esperanza Fernandez
  • Manuel Palacin
  • Shushi Nagamori
  • Marine Livrozet
  • J Scott Templin
  • Josep Chillarón
  • Antonio Zorzano
  • Hirohisa Okuyama
  • Junko Kurokawa
  • Suguru Okuda
  • Virginia Nunes
  • T Peters
  • Kazuaki Takafuji
  • Kenjiro Tadagaki
  • Pattama Wiriyasermkul
  • Susanna Bodoy
  • Meritxell Espino Guarch
  • Saya Nakagomi
  • Ryuichi Ohgaki
  • Yoshikatsu Kanai
  • Yumiko Nishinaka
  • Jean Jacques Boffa
  • Laurent Mesnard
  • Michel Daudon
  • Elizabeth Thioulouse
  • Emmanuel Letavernier
  • Jean Philippe Haymann
  • Jean Jaubert
  • Dominique Bazin
  • Sophie Vandermeersch
  • Laurent Baud
  • Charles B Berde
  • Mariano Soiza-Reilly
  • Kathryn G Commons
  • Sun Jung Bang
  • David Torrents
  • H Segawa
  • A Popp
  • V Schlueter
  • C Thaete
  • J Grosse
  • A Russ
  • R Sedlmeier
  • M C Nehls
  • S Wolf
  • Montserrat Carrascal
  • Joaquin Abian
  • Ferran Rousaud
  • M J Calonge
  • K Morita
  • H Haga
  • K Miyamoto
  • Y Taketani
  • K Katai
  • Y Ogura
  • E Takeda
  • S Tatsumi
  • T Nii
  • W S Lee
  • P Gasparini
  • M Chillon
  • L Zelante
  • F Di Silverio
  • X Testar
  • J Chillaron
  • F Rousaud
  • M Gallucci
  • B Dallapiccola
  • R G Wells
  • M A Hediger
  • R V Sabbag
  • T K Mohandas

Detail Information

Publications10

  1. ncbi A mouse model for cystinuria type I
    T 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...
  2. pmc An animal model of type A cystinuria due to spontaneous mutation in 129S2/SvPasCrl mice
    Marine Livrozet
    Sorbonne Universités, UPMC Univ Paris 06, UMR S 702, Paris, France INSERM, UMR S 702, Paris, France
    PLoS ONE 9:e102700. 2014
    Cystinuria 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)...
  3. pmc Novel cystine transporter in renal proximal tubule identified as a missing partner of cystinuria-related plasma membrane protein rBAT/SLC3A1
    Shushi 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...
  4. ncbi Identification and functional characterization of a novel low affinity aromatic-preferring amino acid transporter (arpAT). One of the few proteins silenced during primate evolution
    Esperanza 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...
  5. pmc Patterned expression of ion channel genes in mouse dorsal raphe nucleus determined with the Allen Mouse Brain Atlas
    J 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...
  6. ncbi Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine
    M 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, ..
  7. pmc Cloning and chromosomal localization of a human kidney cDNA involved in cystine, dibasic, and neutral amino acid transport
    W 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 ..
  8. pmc 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. 1997
    The Na+-independent dibasic and neutral amino acid transporter NBAT is among the least hydrophobic of mammalian amino acid transporters...
  9. ncbi Canine cystinuria: polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation in cystinuric Newfoundland dogs
    P 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...
  10. ncbi rBAT-b(0,+)AT heterodimer is the main apical reabsorption system for cystine in the kidney
    Esperanza Fernandez
    Departament de Bioquimica i Biologia Molecular, Facultat de Biologia, Universitat de Barcelona, Barcelona 08028, Spain
    Am J Physiol Renal Physiol 283:F540-8. 2002
    Mutations in the rBAT and b(0,+)AT genes cause type I and non-type I cystinuria, respectively...

Research Grants2

  1. Molecular Analysis of a Canine CNS Developmental Defect
    Paula Henthorn; Fiscal Year: 2005
    ....
  2. ETIOLOGY AND DEVELOPMENT OF CONGENITAL HEART DISEASE
    Paula Henthorn; Fiscal Year: 2006
    ..unreadable] [unreadable]..