Genomes and Genes
basic amino acid transport systems
Summary: Amino acid transporter systems capable of transporting basic amino acids (AMINO ACIDS, BASIC).
- Feliubadaló L, Font M, Purroy J, Rousaud F, Estivill X, Nunes V, et al. Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT. Nat Genet. 1999;23:52-7 pubmed..Our data establish that mutations in SLC7A9 cause non-type I cystinuria, and suggest that bo,+AT is the light subunit of rBAT...
- Chabrol B, Martens K, Meulemans S, Cano A, Jaeken J, Matthijs G, et al. Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome. J Med Genet. 2008;45:314-8 pubmed publisher..The deletions differ in size and the number of genes involved. In HCS patients, only SLC3A1 and PREPL are disrupted. In the 2p21 deletion syndrome, two additional genes (C2orf34 and PPM1B) are lost...
- Calonge M, Gasparini P, Chillaron J, Chillon M, Gallucci M, Rousaud F, et al. Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine. Nat Genet. 1994;6:420-5 pubmed..Mutation M467T nearly abolished the amino acid transport activity induced by rBAT in Xenopus oocytes. These results establish rBAT as a cystinuria gene...
- MacLeod C. Regulation of cationic amino acid transporter (CAT) gene expression. Biochem Soc Trans. 1996;24:846-52 pubmed..From this information and more physiological analysis, it will be possible to determine the role and significance of these transport proteins. ..
- Mukherjee P, Prasad R. Purified arginine permease of Candida albicans is functionally active in a reconstituted system. Yeast. 1998;14:335-45 pubmed..All the characteristic features of L-arginine transport displayed by the reconstituted system were similar to those observed in intact cells. Thus homogeneous purified arginine permease was also functionally active. ..
- Bisceglia L, Fischetti L, Stanziale P. Novel human pathological mutations. Gene symbol: SLC3A1. Disease: cystinuria. Hum Genet. 2007;122:553 pubmed
- Yokota N, Uchijima M, Nishizawa S, Namba H, Koide Y. Identification of differentially expressed genes in rat hippocampus after transient global cerebral ischemia using subtractive cDNA cloning based on polymerase chain reaction. Stroke. 2001;32:168-74 pubmed..PCR-based subtractive cDNA cloning is demonstrated to be a useful tool for analyzing in vivo gene expression in animal ischemia models. ..
- Fjellstedt E, Harnevik L, Jeppsson J, Tiselius H, Söderkvist P, Denneberg T. Urinary excretion of total cystine and the dibasic amino acids arginine, lysine and ornithine in relation to genetic findings in patients with cystinuria treated with sulfhydryl compounds. Urol Res. 2003;31:417-25 pubmed..These unexpected findings indicate that an additional gene or genes participate in the urinary cystine reabsorption in the cystinuric patients who currently are without a full genetic explanation for their disease. ..
- Tonazzi A, Indiveri C. Chemical modification of the mitochondrial ornithine/citrulline carrier by SH reagents: effects on the transport activity and transition from carrier to pore-like function. Biochim Biophys Acta. 2003;1611:123-30 pubmed
- Clark M, Reade M, Boyd C, Young J. Effects of endotoxin exposure on cationic amino acid transporter function in ovine peripheral blood mononuclear cells. Exp Physiol. 2003;88:201-8 pubmed..Cyclo-oxygenase and/or lipoxygenase inhibition might be useful in reducing arginine transport, and hence nitric oxide production, in these cells. ..
- Steffes C, Ellis J, Wu J, Rosen B. The lysP gene encodes the lysine-specific permease. J Bacteriol. 1992;174:3242-9 pubmed..Cells carrying a plasmid with the lysP gene exhibited a 10- to 20-fold increase in the rate of lysine uptake above wild-type levels. These results demonstrate that the lysP gene encodes the lysine-specific permease. ..
- Campbell J, Deol S, Ashcroft F, Kerr I, Sansom M. Nucleotide-dependent conformational changes in HisP: molecular dynamics simulations of an ABC transporter nucleotide-binding domain. Biophys J. 2004;87:3703-15 pubmed..These results support the mechanism for ATP-induced conformational transitions derived from the crystal structures of other NBDs. ..
- Mendes Ribeiro A, Brunini T. L-Arginine transport in disease. Curr Med Chem Cardiovasc Hematol Agents. 2004;2:123-31 pubmed..The current review provides an overview of L-arginine transport in disease, specifically in uraemia, heart failure, hypertension, diabetes mellitus, septic shock and sickle cell disease. ..
- Arancibia Garavilla Y, Toledo F, Casanello P, Sobrevia L. Nitric oxide synthesis requires activity of the cationic and neutral amino acid transport system y+L in human umbilical vein endothelium. Exp Physiol. 2003;88:699-710 pubmed..Thus, L-arginine transport through system y+L plays a role in NO synthesis, which could be a determining factor in pathological conditions where the endothelial L-arginine-NO pathway is altered, such as in diabetes mellitus. ..
- Yuen Y, Lam C, Lai C, Tong S, Li P, Tam S, et al. Heterogeneous mutations in the SLC3A1 and SLC7A9 genes in Chinese patients with cystinuria. Kidney Int. 2006;69:123-8 pubmed..Three patients with type A cystinuria, two with type B cystinuria, and three carriers of type B cystinuria were identified. Our results suggest that the molecular basis of cystinuria is heterogeneous in our local population...
- Remillard C, Yuan J. Cardiac L-arginine transport: the CAT is back. J Physiol. 2007;580:699-700 pubmed
- Mániková D, Vlasáková D, Loduhová J, Letavayová L, Vigasová D, Krascsenitsová E, et al. Investigations on the role of base excision repair and non-homologous end-joining pathways in sodium selenite-induced toxicity and mutagenicity in Saccharomyces cerevisiae. Mutagenesis. 2010;25:155-62 pubmed publisher
- Bisceglia L, Reznik Wolf H, Di Perna M, Pras E. Human gene mutations. Gene symbol: SLC3A1. Disease: cystinuria. Hum Genet. 2007;122:215 pubmed
- Bisceglia L, Di Perna M, Zelante L. Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuria. Hum Genet. 2007;122:207 pubmed
- Bajmoczi M, Sneve M, Eide D, Drewes L. TAT1 encodes a low-affinity histidine transporter in Saccharomyces cerevisiae. Biochem Biophys Res Commun. 1998;243:205-9 pubmed..Our results suggest that the TAT1-encoded protein, previously characterized as the high-affinity tyrosine permease, also acts as the low affinity histidine permease...
- Chatzikyriakidou A, Sofikitis N, Georgiou I. Gene symbol: SLC3A1. Disease: Cystinuria. Hum Genet. 2005;116:543 pubmed
- Moret C, Dave M, Schulz N, Jiang J, Verrey F, Wagner C. Regulation of renal amino acid transporters during metabolic acidosis. Am J Physiol Renal Physiol. 2007;292:F555-66 pubmed..Our results suggest that the selective regulation of SNAT3 and y(+)LAT1 expression may serve a major role in the renal adaptation to acid secretion and thus for systemic acid-base balance. ..
- Eggermann T, Brauers E. Gene symbol: SLC3A1. Disease: Cystinuria. Accession #Hm0543. Hum Genet. 2006;118:779 pubmed
- Nunes V, Font Llitjós M, Jimenez Vidal M, Bisceglia L, Di Perna M, de Sanctis L, et al. Gene symbol: SLC3A1. Disease: cystinuria. Hum Genet. 2005;116:246 pubmed
- Nunes V, Font Llitjós M, Jimenez Vidal M, Bisceglia L, Di Perna M, de Sanctis L, et al. Gene symbol: SLC7A9. Disease: cystinuria, type non-I. Hum Genet. 2005;116:244 pubmed
- Pras E, Raben N, Golomb E, Arber N, Aksentijevich I, Schapiro J, et al. Mutations in the SLC3A1 transporter gene in cystinuria. Am J Hum Genet. 1995;56:1297-303 pubmed..This report brings the number of disease-associated mutations in this gene to 10. We also assess the frequency of these mutations in our 17 cystinuria families...
- Nohno T, Saito T, Hong J. Cloning and complete nucleotide sequence of the Escherichia coli glutamine permease operon (glnHPQ). Mol Gen Genet. 1986;205:260-9 pubmed..There were two additional reading frames (glnP and glnQ) downstream of glnH sharing a common promoter. It was concluded that the glnP and glnQ proteins as well as the glnH protein are essential for glutamine permease activity...
- Hoshide R, Ikeda Y, Karashima S, Matsuura T, Komaki S, Kishino T, et al. Molecular cloning, tissue distribution, and chromosomal localization of human cationic amino acid transporter 2 (HCAT2). Genomics. 1996;38:174-8 pubmed..Two patients with lysinuric protein intolerance (MIM No. 222700) were analyzed for HCAT2 cDNA but no mutation was detected. The HCAT2 gene was assigned to human chromosome 8p21.3-p22. ..
- Reig N, Chillarón J, Bartoccioni P, Fernandez E, Bendahan A, Zorzano A, et al. The light subunit of system b(o,+) is fully functional in the absence of the heavy subunit. EMBO J. 2002;21:4906-14 pubmed..Thus, subunit b(o,+)AT by itself is sufficient to catalyse transmembrane amino acid exchange. The polytopic subunits may also be the catalytic part in other heteromeric transporters. ..
- Kerr I. Structure and association of ATP-binding cassette transporter nucleotide-binding domains. Biochim Biophys Acta. 2002;1561:47-64 pubmed..This review evaluates both these data and the conflicting implications they have for domain communication in ABC transporters. Areas of biochemical research that attempt to resolve these conflicts will be discussed...
- Nakanishi T, Kekuda R, Fei Y, Hatanaka T, Sugawara M, Martindale R, et al. Cloning and functional characterization of a new subtype of the amino acid transport system N. Am J Physiol Cell Physiol. 2001;281:C1757-68 pubmed..Proline, alpha-(methylamino)isobutyric acid, and anionic and cationic amino acids are not recognized by rat SN2...
- Hammermann R, Brunn G, Racke K. Analysis of the genomic organization of the human cationic amino acid transporters CAT-1, CAT-2 and CAT-4. Amino Acids. 2001;21:211-9 pubmed..hCAT-4 consists of only 4 translated exons and 3 short introns. Exons of identical size and highly homologous to exon 3 of hCAT-4 are present in hCAT-1 and hCAT-2. ..
- Vékony N, Wolf S, Boissel J, Gnauert K, Closs E. Human cationic amino acid transporter hCAT-3 is preferentially expressed in peripheral tissues. Biochemistry. 2001;40:12387-94 pubmed..Also in other peripheral tissues, hCAT-3 expression was equal to or higher than in most brain regions, suggesting that hCAT-3 is not a neuron-specific transporter. ..
- Closs E, Basha F, Habermeier A, Forstermann U. Interference of L-arginine analogues with L-arginine transport mediated by the y+ carrier hCAT-2B. Nitric Oxide. 1997;1:65-73 pubmed..These data indicate that substrate recognition differs markedly between the inducible L-arginine transporter hCAT-2B and the inducible NOS II, with different L-arginine analogues having affinity to only one or both of these proteins. ..
- Braissant O, Gotoh T, Loup M, Mori M, Bachmann C. L-arginine uptake, the citrulline-NO cycle and arginase II in the rat brain: an in situ hybridization study. Brain Res Mol Brain Res. 1999;70:231-41 pubmed..Thus vicinal interactions should be taken into account to study their regulatory mechanisms. ..
- Guillen M, Corella D, Cabello M, Saiz C, Hernandez Yago J. [Sensitivity, specificity and predictive value of the genetic analysis of SLC3A1 gene variants used for the diagnosis of cystinuria among the spanish population]. Rev Clin Esp. 2001;201:256-9 pubmed..8%); however, its specificity and predictive value were low (20.6% and 53.4%, respectively). The studied genetic variants did not show enough clinical usefulness. ..
- Niese K, Chiaramonte M, Ellies L, Rothenberg M, Zimmermann N. The cationic amino acid transporter 2 is induced in inflammatory lung models and regulates lung fibrosis. Respir Res. 2010;11:87 pubmed publisher..Mechanistic analysis revealed that arginase activity in macrophages was partly dependent on CAT2. Taken together, these results identify CAT2 as a regulator of fibrotic responses in the lung. ..
- Jäger K, Garreis F, Posa A, Dunse M, Paulsen F. Functional relationship between cationic amino acid transporters and beta-defensins: implications for dry skin diseases and the dry eye. Ann Anat. 2010;192:65-9 pubmed publisher..In this review, we summarize current knowledge on the human CATs that appear to be integrated in causal regulation cascades of beta-defensins, thereby offering novel concepts for therapeutic perspectives. ..
- Wartenfeld R, Golomb E, Katz G, Bale S, Goldman B, Pras M, et al. Molecular analysis of cystinuria in Libyan Jews: exclusion of the SLC3A1 gene and mapping of a new locus on 19q. Am J Hum Genet. 1997;60:617-24 pubmed
- Peeters E, Nguyen Le Minh P, Foulquié Moreno M, Charlier D. Competitive activation of the Escherichia coli argO gene coding for an arginine exporter by the transcriptional regulators Lrp and ArgP. Mol Microbiol. 2009;74:1513-26 pubmed publisher..The repertoire of bacterial transcription regulation mechanisms is vast, but the competitive activation of a single promoter by two activator proteins as described here appears to be rare. ..
- Stradalova V, Stahlschmidt W, Grossmann G, Blažíková M, Rachel R, Tanner W, et al. Furrow-like invaginations of the yeast plasma membrane correspond to membrane compartment of Can1. J Cell Sci. 2009;122:2887-94 pubmed publisher..Thus, we identify the MCC patch, which is a lateral membrane domain of specific composition and function, with a specific structure in the yeast plasma membrane - the furrow-like invagination. ..
- Palmieri L, De Marco V, Iacobazzi V, Palmieri F, Runswick M, Walker J. Identification of the yeast ARG-11 gene as a mitochondrial ornithine carrier involved in arginine biosynthesis. FEBS Lett. 1997;410:447-51 pubmed..Its main physiological role is probably to take ornithine synthesized from glutamate in the mitochondrial matrix to the cytosol where it is converted to arginine. ..
- Henthorn P, Liu J, Gidalevich T, Fang J, Casal M, Patterson D, et al. Canine cystinuria: polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation in cystinuric Newfoundland dogs. Hum Genet. 2000;107:295-303 pubmed..The canine homologue of human type I cystinuria provides the opportunity to use a large animal model to investigate molecular approaches for the treatment of cystinuria and other renal tubular diseases...
- Anand B, Katragadda S, Nashed Y, Mitra A. Amino acid prodrugs of acyclovir as possible antiviral agents against ocular HSV-1 infections: interactions with the neutral and cationic amino acid transporter on the corneal epithelium. Curr Eye Res. 2004;29:153-66 pubmed..Design of amino acid prodrugs seems to be an attractive strategy to enhance the solubility of the otherwise poorly aqueous soluble compounds and also to afford a targeted and possibly enhanced delivery of the active drug. ..
- Kamada Y, Nagaretani H, Tamura S, Ohama T, Maruyama T, Hiraoka H, et al. Vascular endothelial dysfunction resulting from L-arginine deficiency in a patient with lysinuric protein intolerance. J Clin Invest. 2001;108:717-24 pubmed..Thus, in the LPI patient, L-arginine deficiency caused vascular endothelial dysfunction via a decrease in NO production. ..
- Chen C, Lee J, Tsai P, Lu Y, Huang C, Huang C. Platonin attenuates LPS-induced CAT-2 and CAT-2B induction in stimulated murine macrophages. Acta Anaesthesiol Scand. 2006;50:604-12 pubmed..Platonin attenuates NO production and L-arginine transport in LPS-stimulated murine macrophages possibly through inhibiting iNOS, CAT-2, and CAT-2B expression. ..
- Nunes V, Font Llitjós M, Jimenez Vidal M, Bisceglia L, Di Perna M, de Sanctis L, et al. Gene symbol: SLC7A9. Disease: cystinuria, type non-I. Hum Genet. 2005;116:243 pubmed
- Font Llitjós M, Feliubadaló L, Espino M, Clèries R, Mañas S, Frey I, et al. Slc7a9 knockout mouse is a good cystinuria model for antilithiasic pharmacological studies. Am J Physiol Renal Physiol. 2007;293:F732-40 pubmed..Our results validate the use of this mouse model for testing the efficacy of potential new drugs against cystinuria. ..
- Furesz T, Heath Monnig E, Kamath S, Smith C. Lysine uptake by cloned hCAT-2B: comparison with hCAT-1 and with trophoblast surface membranes. J Membr Biol. 2002;189:27-33 pubmed..The identification and characterization of the various cationic amino-acid transporters of the human placenta have the potential to increase the understanding of the cellular mechanism of transplacental transfer. ..
- Pineda M, Wagner C, Bröer A, Stehberger P, Kaltenbach S, Gelpí J, et al. Cystinuria-specific rBAT(R365W) mutation reveals two translocation pathways in the amino acid transporter rBAT-b0,+AT. Biochem J. 2004;377:665-74 pubmed..This is the first direct evidence that mutations in rBAT may modify transport properties of system b(0,+). ..
- Rotmann A, Closs E, Liewald J, Nawrath H. Intracellular accumulation of L-Arg, kinetics of transport, and potassium leak conductance in oocytes from Xenopus laevis expressing hCAT-1, hCAT-2A, and hCAT-2B. Biochim Biophys Acta. 2004;1660:138-43 pubmed..Conductance measurements at symmetric concentrations of L-Arg (inside/outside) allowed us to determine KM and Vmax. The empty transporter of hCAT-2B featured an unexpected potassium conductance, which was inhibited by L-Arg. ..