Genomes and Genes
neutral amino acid transport systems
Summary: Amino acid transporter systems capable of transporting neutral amino acids (AMINO ACIDS, NEUTRAL).
- Schäfer N, Luhmann U, Feil S, Berger W. Differential gene expression in Ndph-knockout mice in retinal development. Invest Ophthalmol Vis Sci. 2009;50:906-16 pubmed publisher..In particular, ectopic expression of Plvap is consistent with hallmark disease symptoms in mice and humans. ..
- 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...
- Hatanaka T, Huang W, Nakanishi T, Bridges C, Smith S, Prasad P, et al. Transport of D-serine via the amino acid transporter ATB(0,+) expressed in the colon. Biochem Biophys Res Commun. 2002;291:291-5 pubmed..Expression is most predominant in the colon where the transporter is localized to the luminal membrane of colonocytes, making this transporter uniquely suitable for absorption of bacteria-derived D-serine. ..
- Bröer A, Albers A, Setiawan I, Edwards R, Chaudhry F, Lang F, et al. Regulation of the glutamine transporter SN1 by extracellular pH and intracellular sodium ions. J Physiol. 2002;539:3-14 pubmed..A slippage mode in the transporter mechanism and pH-regulated endogenous oocyte cation channels are likely to contribute to the observed currents. ..
- Gahl W, Thoene J, Schneider J. Cystinosis. N Engl J Med. 2002;347:111-21 pubmed
- Taranta A, Petrini S, Palma A, Mannucci L, Wilmer M, De Luca V, et al. Identification and subcellular localization of a new cystinosin isoform. Am J Physiol Renal Physiol. 2008;294:F1101-8 pubmed publisher..These data indicate that the expression of the gene products encoded by the CTNS gene is not restricted to the lysosomal compartment. These finding may help elucidate the mechanisms of cell dysfunction in this disorder. ..
- Alcántara Ortigoza M, Belmont Martínez L, Vela Amieva M, González del Angel A. Analysis of the CTNS gene in nephropathic cystinosis Mexican patients: report of four novel mutations and identification of a false positive 57-kb deletion genotype with LDM-2/exon 4 multiplex PCR assay. Genet Test. 2008;12:409-14 pubmed publisher
- Kiehntopf M, Schickel J, Gönne B, Koch H, Superti Furga A, Steinmann B, et al. Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis. Hum Mutat. 2002;20:237 pubmed..These data provide a basis for routine molecular diagnosis of cystinosis in the central European population, especially in cystinosis patients of German and Swiss origin. ..
- Gahl W, Balog J, Kleta R. Nephropathic cystinosis in adults: natural history and effects of oral cysteamine therapy. Ann Intern Med. 2007;147:242-50 pubmed..The full burden of nephropathic cystinosis in adulthood and the effects of long-term oral cysteamine therapy on its nonrenal complications have not been elucidated...
- Kalatzis V, Cherqui S, Antignac C, Gasnier B. Cystinosin, the protein defective in cystinosis, is a H(+)-driven lysosomal cystine transporter. EMBO J. 2001;20:5940-9 pubmed
- Heil S, Levtchenko E, Monnens L, Trijbels F, van der Put N, Blom H. The molecular basis of Dutch infantile nephropathic cystinosis. Nephron. 2001;89:50-5 pubmed..Next to biochemical determination of cystine in leukocytes or fibroblasts, molecular genetic analysis enables prenatal diagnosis and facilitates identification of carriers. ..
- Sano M, Izumi Y, Helenius K, Asakura M, Rossi D, Xie M, et al. Ménage-à-trois 1 is critical for the transcriptional function of PPARgamma coactivator 1. Cell Metab. 2007;5:129-42 pubmed..PGC-1 bound to both MAT1 and Cdk7 in coprecipitation assays. Thus, we demonstrate a requirement for MAT1 in the operation of PGC-1 coactivators that control cell metabolism. ..
- Kennedy D, Gatfield K, Winpenny J, Ganapathy V, Thwaites D. Substrate specificity and functional characterisation of the H+/amino acid transporter rat PAT2 (Slc36a2). Br J Pharmacol. 2005;144:28-41 pubmed..The structural characteristics that determine the substrate specificity of rPAT2 have been identified. This information should prove valuable in the design of selective substrates/inhibitors for PAT1 and PAT2. ..
- Flach C, Qadri F, Bhuiyan T, Alam N, Jennische E, Holmgren J, et al. Differential expression of intestinal membrane transporters in cholera patients. FEBS Lett. 2007;581:3183-8 pubmed..The majority of these changes appear to be attempts of the host to counteract the secretory response. Our results also support the concept that epithelial cells are involved in 5-HT signalling during acute cholera. ..
- Kleta R, Anikster Y, Lucero C, Shotelersuk V, Huizing M, Bernardini I, et al. CTNS mutations in African American patients with cystinosis. Mol Genet Metab. 2001;74:332-7 pubmed..We conclude that the diagnosis of cystinosis should be entertained in African Americans with symptoms of the disease, and that mutation analysis for the 57-kb deletion should be considered in this group of patients...
- Sumantran V, Schweizer H, Datta P. A novel membrane-associated threonine permease encoded by the tdcC gene of Escherichia coli. J Bacteriol. 1990;172:4288-94 pubmed
- Fei Y, Sugawara M, Nakanishi T, Huang W, Wang H, Prasad P, et al. Primary structure, genomic organization, and functional and electrogenic characteristics of human system N 1, a Na+- and H+-coupled glutamine transporter. J Biol Chem. 2000;275:23707-17 pubmed..These data suggest that SN1 mediates the influx of two Na(+) and one amino acid substrate per transport cycle coupled to the efflux of one H(+), rendering the transport process electrogenic. ..
- Chaudhry F, Reimer R, Krizaj D, Barber D, Storm Mathisen J, Copenhagen D, et al. Molecular analysis of system N suggests novel physiological roles in nitrogen metabolism and synaptic transmission. Cell. 1999;99:769-80 pubmed..Together with the pattern of SN1 expression, these unusual properties suggest novel physiological roles for system N in nitrogen metabolism and synaptic transmission. ..
- Shotelersuk V, Larson D, Anikster Y, McDowell G, Lemons R, Bernardini I, et al. CTNS mutations in an American-based population of cystinosis patients. Am J Hum Genet. 1998;63:1352-62 pubmed..These data demonstrate the origins of CTNS mutations in America and provide a basis for possible molecular diagnosis in this population. ..
- Town M, Jean G, Cherqui S, Attard M, Forestier L, Whitmore S, et al. A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. Nat Genet. 1998;18:319-24 pubmed..CTNS encodes an integral membrane protein, cystinosin, with features of a lysosomal membrane protein. Eleven different mutations, all predicted to cause loss of function of the protein, were found to segregate with the disorder...
- Hesslinger C, Fairhurst S, Sawers G. Novel keto acid formate-lyase and propionate kinase enzymes are components of an anaerobic pathway in Escherichia coli that degrades L-threonine to propionate. Mol Microbiol. 1998;27:477-92 pubmed
- Trauner D, Spilkin A, Williams J, Babchuck L. Specific cognitive deficits in young children with cystinosis: evidence for an early effect of the cystinosin gene on neural function. J Pediatr. 2007;151:192-6 pubmed..The cause of this deficit is unknown. This study was designed to determine whether the cognitive deficit is present in young children with cystinosis, suggesting an early effect of the genetic disorder on brain development...
- Ianculescu A, Friesema E, Visser T, Giacomini K, Scanlan T. Transport of thyroid hormones is selectively inhibited by 3-iodothyronamine. Mol Biosyst. 2010;6:1403-10 pubmed publisher..Given that OATP1A2, OATP1C1, and MCT8 are all present in the brain, T(1)AM may play an important role in modulating thyroid hormone delivery and activity in specific target regions in the central nervous system. ..
- Kaur J, Bachhawat A. Yct1p, a novel, high-affinity, cysteine-specific transporter from the yeast Saccharomyces cerevisiae. Genetics. 2007;176:877-90 pubmed..cerevisiae, which we have named YCT1 (yeast cysteine transporter). Interestingly, Yct1p belongs to the Dal5p family of transporters rather than the amino acid permease family to which all the known amino acid transporters belong. ..
- Gandour R. Rationalizing the solution properties of zwitterions by means of computational chemistry. Chem Biodivers. 2005;2:1580-94 pubmed..The three studies also show how computational chemistry has evolved during this time to enable an evaluation of the structure and energetics of zwitterions in aqueous solution. ..
- Hunt E, Pritchard J, Bennett M, Zhu X, Barrett D, Allen T, et al. The Arabidopsis thaliana/Myzus persicae model system demonstrates that a single gene can influence the interaction between a plant and a sap-feeding insect. Mol Ecol. 2006;15:4203-13 pubmed..The results show that, under experimental conditions, this model system can be used to identify plant genes that control the behaviour and fecundity of an insect pest. ..
- Gesemann M, Lesslauer A, Maurer C, Schonthaler H, Neuhauss S. Phylogenetic analysis of the vertebrate excitatory/neutral amino acid transporter (SLC1/EAAT) family reveals lineage specific subfamilies. BMC Evol Biol. 2010;10:117 pubmed publisher..Inactivation and preservation of specific SLC1 genes led to the complete loss of two subfamilies in extant theria, while other vertebrates have retained at least one member of two newly identified SLC1 subfamilies. ..
- Gu S, Roderick H, Camacho P, Jiang J. Characterization of an N-system amino acid transporter expressed in retina and its involvement in glutamine transport. J Biol Chem. 2001;276:24137-44 pubmed..The unique expression pattern and selective glutamine transport properties of mNAT2 suggest that it plays a specific role in the uptake of glutamine involved in the generation of the neurotransmitter glutamate in retina. ..
- Herdon H, Godfrey F, Brown A, Coulton S, Evans J, Cairns W. Pharmacological assessment of the role of the glycine transporter GlyT-1 in mediating high-affinity glycine uptake by rat cerebral cortex and cerebellum synaptosomes. Neuropharmacology. 2001;41:88-96 pubmed..However, in cerebellum, only a part of the high-affinity uptake is mediated by GlyT-1, with the remaining NFPS-insensitive component most likely mediated by GlyT-2. ..
- Bröer A, Deitmer J, Broer S. Astroglial glutamine transport by system N is upregulated by glutamate. Glia. 2004;48:298-310 pubmed..The results suggest that astrocytes respond actively to the release of glutamate by increasing glutamine release and thereby may modulate glutamatergic neurotransmission. ..
- Pearlman R, Aubrey K, Vandenberg R. Arachidonic acid and anandamide have opposite modulatory actions at the glycine transporter, GLYT1a. J Neurochem. 2003;84:592-601 pubmed..We suggest that the stimulatory effects of anandamide on GLYT1 are due to a direct interaction with the transporter. ..
- Wolin R, Santillan A, Tang L, Huang C, Jiang X, Lovenberg T. Inhibitors of the glycine transporter type-2 (GlyT-2): synthesis and biological activity of benzoylpiperidine derivatives. Bioorg Med Chem. 2004;12:4511-32 pubmed..A distinct preference for a 2-carbon tether (n=1) was observed relative to the corresponding 3-carbon homolog (n=2). ..
- Simon A, Plies L, Habermeier A, Martine U, Reining M, Closs E. Role of neutral amino acid transport and protein breakdown for substrate supply of nitric oxide synthase in human endothelial cells. Circ Res. 2003;93:813-20 pubmed..Preferential use of the arginine pool IIB under pathophysiological conditions might therefore explain the arginine paradox. ..
- Poole K, E Walker M, Warren T, Gardner J, McBryde C, de Barros Lopes M, et al. Proline transport and stress tolerance of ammonia-insensitive mutants of the PUT4-encoded proline-specific permease in yeast. J Gen Appl Microbiol. 2009;55:427-39 pubmed..This increase in proline accumulation was associated with increased cell viability in conditions of high temperature and osmotic stress raising possible benefits in industrial fermentation applications. ..
- Haq M, Kalatzis V, Gubler M, Town M, Antignac C, Van t Hoff W, et al. Immunolocalization of cystinosin, the protein defective in cystinosis. J Am Soc Nephrol. 2002;13:2046-51 pubmed..For the first time, antisera have been raised that localize cystinosin in cells in vitro and in vivo...
- Seol S, Lee S, Kim Y, Do E, Kwon J, Kim S, et al. Minisatellite polymorphisms of the SLC6A19: susceptibility in hypertension. Biochem Biophys Res Commun. 2008;374:714-9 pubmed publisher..87; 95% confidence interval, 0.88-70.66; and p=0.028). These findings suggest that the rare SLC6A19-MS7 allele may be a risk factor for hypertension. ..
- Broer S. Apical transporters for neutral amino acids: physiology and pathophysiology. Physiology (Bethesda). 2008;23:95-103 pubmed publisher..Recent advances in the molecular identification of apical neutral amino acid transporters has shed a light on the molecular basis of Hartnup disorder and iminoglycinuria...
- Tunnicliff G. Membrane glycine transport proteins. J Biomed Sci. 2003;10:30-6 pubmed..This is known as the vesicular inhibitory amino acid transporter since, in addition to glycine, it can transport possibly two other inhibitory neurotransmitters. ..
- Pinilla Tenas J, Barber A, Lostao M. Transport of proline and hydroxyproline by the neutral amino-acid exchanger ASCT1. J Membr Biol. 2003;195:27-32 pubmed..In summary, the present work demonstrates for the first time the ability of ASCT1 to transport proline and hydroxyproline. ..
- Needham A, Kibart M, Crossley H, Ingham P, Foster S. Drosophila melanogaster as a model host for Staphylococcus aureus infection. Microbiology. 2004;150:2347-55 pubmed..The disease model also allowed the effect of antibiotic treatment on the flies to be determined. D. melanogaster is a genetically tractable model host for high-throughput analysis of S. aureus virulence determinants. ..
- Ezure K, Tanaka I. GABA, in some cases together with glycine, is used as the inhibitory transmitter by pump cells in the Hering-Breuer reflex pathway of the rat. Neuroscience. 2004;127:409-17 pubmed..These findings expand our understanding of the networks of lung receptor-mediated reflexes including the Hering-Breuer reflex. ..
- Parker M, Young M, Daly C, Meech R, Boron W, Tanner M. A conductive pathway generated from fragments of the human red cell anion exchanger AE1. J Physiol. 2007;581:33-50 pubmed..Although this conductive pathway is not a usual feature of intact mammalian AE1, it shares many properties with the anion-conductive pathways intrinsic to two other Cl-HCO3- exchangers, trout AE1 and mammalian SLC26A7. ..
- Berezowski V, Miecz D, Marszałek M, Bröer A, Broer S, Cecchelli R, et al. Involvement of OCTN2 and B0,+ in the transport of carnitine through an in vitro model of the blood-brain barrier. J Neurochem. 2004;91:860-72 pubmed..Expression of B(0,+) in BBCEC was confirmed by RT-PCR. These results suggest that OCTN2 and B(0,+) could be involved in carnitine transport in both the apical and basolateral membrane. ..
- Wang T, Ding C, Wang G, Luo S, Lin Y, Ruan Y, et al. Identification of Tbr-1/CASK complex target genes in neurons. J Neurochem. 2004;91:1483-92 pubmed..We suggest that Tbr-1/CASK protein complex regulates expression of these downstream target genes and thus modulates neuronal activity and function. ..
- Koyanagi T, Katayama T, Hirao A, Suzuki H, Kumagai H. Construction of an effective protein expression system using the tpl promoter in Escherichia coli. Biotechnol Lett. 2005;27:1267-71 pubmed
- Camargo S, Makrides V, Virkki L, Forster I, Verrey F. Steady-state kinetic characterization of the mouse B(0)AT1 sodium-dependent neutral amino acid transporter. Pflugers Arch. 2005;451:338-48 pubmed
- Miszner A, Peres A, Castagna M, Bettè S, Giovannardi S, Cherubino F, et al. Structural and functional basis of amino acid specificity in the invertebrate cotransporter KAAT1. J Physiol. 2007;581:899-913 pubmed..In this context serine 308 appears to be important in allowing the change to the inward-facing conformation of the transporter following substrate binding, rather than in determining the binding specificity. ..
- Cubelos B, González González I, Giménez C, Zafra F. Amino acid transporter SNAT5 localizes to glial cells in the rat brain. Glia. 2005;49:230-44 pubmed
- Nakada Y, Nishijyo T, Itoh Y. Divergent structure and regulatory mechanism of proline catabolic systems: characterization of the putAP proline catabolic operon of Pseudomonas aeruginosa PAO1 and its regulation by PruR, an AraC/XylS family protein. J Bacteriol. 2002;184:5633-40 pubmed..Thus, the proline utilization system of P. aeruginosa differs from that of P. putida with respect to putA structure, the organization of the putAP genes, and the regulatory mechanism of putA expression. ..
- Sidoryk M. [Glutamine transport in the central nervous system]. Postepy Biochem. 2004;50:363-70 pubmed