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Genomes and Genes
| SLC25A18SummaryGene Symbol: SLC25A18 Description: solute carrier family 25 (glutamate carrier), member 18 Alias: GC2, GC-2, glutamate/H(+) symporter 2, mitochondrial glutamate carrier 2, solute carrier family 25 (mitochondrial carrier), member 18, solute carrier family 25 member 18 Species: human Top Publications
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Publications
Temporal ChIP-on-Chip of RNA-Polymerase-II to detect novel gene activation events during photoreceptor maturationPadmaja Tummala
Eye Research Institute, Oakland University, Rochester, MI 48309 4401, USA
Mol Vis 16:252-71. 2010..Some of these elusive gene activation events can be detected by mapping changes in RNA polymerase-II (Pol-II) association around transcription start sites...
Gitelman syndromeNine V A M Knoers
Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Orphanet J Rare Dis 3:22. 2008..Cardiac work-up should be offered to screen for risk factors of cardiac arrhythmias. All GS patients are encouraged to maintain a high-sodium and high potassium diet. In general, the long-term prognosis of GS is excellent...
Cationic and neutral amino acid transporter transcript abundances are differentially expressed in the equine intestinal tractA D Woodward
Department of Animal Science, Michigan State University, East Lansing 48824, USA
J Anim Sci 88:1028-33. 2010..Results indicate that the large intestine might contribute to both cationic and neutral AA uptake and absorption predominantly via transporters LAT-3 and b(0,+)AT...
The Role of the Sodium-Taurocholate Cotransporting Polypeptide (NTCP) and of the Bile Salt Export Pump (BSEP) in Physiology and Pathophysiology of Bile FormationBruno Stieger
Division of Clinical Pharmacology and Toxicology, University Hospital, 8091, Zurich, Switzerland
Handb Exp Pharmacol 201:205-59. 2011..It is, however, subject to inhibition by endogenous metabolites or by drugs. A sustained inhibition will lead to acquired cholestasis, which can end in liver injury...
Plasma concentrations of 25-hydroxy-vitamin D and 1,25-dihydroxy-vitamin D are related to the phenotype of Gc (vitamin D-binding protein): a cross-sectional study on 595 early postmenopausal womenA L Lauridsen
Department of Clinical Biochemistry, NBG, Aarhus Sygehus, Aarhus University Hospital, Aarhus, Denmark
Calcif Tissue Int 77:15-22. 2005..between women with different Gc phenotype, being highest in Gc1-1, intermediate in Gc1-2, and lowest in Gc2-2...
cDNAs from Onchocerca sp. encoding members of the MRS3/MRS4 class of mitochondrial solute carriersJ Catmull
Department of Biochemistry and Molecular Biology, James Cook University of North Queensland, Townsville, Australia
Biochim Biophys Acta 1282:179-81. 1996..elegans, but levels of identity between these and the Onchocerca proteins were considerably lower. Consideration of cysteine content and overall charge implies that the natural substrates of the nematode proteins are small ions...
Interaction of anion exchanger 1 and glycophorin A in human erythroleukaemic K562 cellsAllison J Pang
Department of Biochemistry, University of Toronto, 1 King s College Circle, Medical Sciences Building, Toronto, Canada, M5S 1A8
Biochem J 421:345-56. 2009..The results indicate that AE1 and GPA form a complex in the ER of human K562 cells, but that both proteins can also traffic to the cell surface independently of each other...
Common variants of four bilirubin metabolism genes and their association with serum bilirubin and coronary artery disease in Chinese Han populationRong Lin
State Key Laboratory of Genetic Engineering, School of Life Sciences, Institute of Biomedical Sciences, Fudan University, and Ruijin Hospital, Shanghai, China
Pharmacogenet Genomics 19:310-8. 2009....
Phenotypes of SLC26A4 gene mutations: Pendred syndrome and hypoacusis with enlarged vestibular aqueductKatarzyna Maciaszczyk
Department of Otolaryngology, Medical University of Lodz, University Hospital No 1, Lodz, Poland
Neuro Endocrinol Lett 29:29-36. 2008..e., IVS8+1G-A, in a total of 55% of the patients with recognised mutation of SLC26A4 gene; the remaining 45% of changes of this gene are unique mutations...
Xenobiotic, bile acid, and cholesterol transporters: function and regulationCurtis D Klaassen
Department of Pharmacology, Toxicology, and Therapeutics, University of Kansas Medical Center, 3901 Rainbow Blvd, Kansas City, KS 66160 7417, USA
Pharmacol Rev 62:1-96. 2010..Transporters are important transmembrane proteins that mediate the cellular entry and exit of a wide range of substrates throughout the body and thereby play important roles in human physiology, pharmacology, pathology, and toxicology...
SLC45A2 variations in Indian oculocutaneous albinism patientsMainak Sengupta
Molecular and Human Genetics Division, Indian Institute of Chemical Biology, Kolkata, West Bengal, India
Mol Vis 13:1406-11. 2007..Interestingly, in almost 31% of the cases, the second mutation has never been found. The purpose of this study was to investigate the molecular basis of OCA among Indians using SLC45A2 as the candidate gene...
Malignant fibrous histiocytoma--pleomorphic sarcoma, NOS gene expression, histology, and clinical course. A pilot studyAdrien Daigeler
Department of Plastic Surgery, Burn Center, Hand Surgery, Sarcoma Reference Center, BG University Hospital Bergmannsheil, Ruhr University Bochum, Burkle de la Camp Platz 1, 44789, Bochum, Germany
Langenbecks Arch Surg 395:261-75. 2010..This study focused on these tumors and analyzed the association of gene expression profiles to clinical outcome...
Lactation stage-dependent expression of transporters in rat whole mammary gland and primary mammary epithelial organoidsSamuel E Gilchrist
University of British Columbia, Vancouver, Canada
Fundam Clin Pharmacol 24:205-14. 2010....
Association of polymorphisms in four bilirubin metabolism genes with serum bilirubin in three Asian populationsRong Lin
Ministry of Education Key Laboratory of Contemporary Anthropology, School of Life Sciences and Institutes of Biomedical Sciences, Fudan University, Shanghai, China
Hum Mutat 30:609-15. 2009..Finally, we observed that significant differences of TBIL levels existed among the three populations; however, this could not be completely explained by the differences at the (TA)n repeat polymorphism and SNP rs4148323:G>A...
Effect of polymorphisms in candidate genes on reproduction traits in Finnish pig populationsA I Sironen
Agrifood Research Finland, MTT, Biotechnology and Food Research, Genomics, FI 36100 Jokioinen, Finland
J Anim Sci 88:821-7. 2010..These results support the suitability of the candidate gene approach for identification of markers to improve the reproductive performance of sows and to provide potential markers for marker-assisted selection...
Cytidine-5'-diphosphocholine (citicoline) improves retinal and cortical responses in patients with glaucomaV Parisi
Cattedra di Clinica Oculistica, Universita di Roma Tor Vergata, Rome, Italy
Ophthalmology 106:1126-34. 1999..To evaluate the effects of cytidine-5'-diphosphocholine (citicoline) on retinal function and on cortical responses in patients with glaucoma...
Polyamine transport is mediated by both endocytic and solute carrier transport mechanisms in the gastrointestinal tractTakeshi Uemura
The Arizona Cancer Center, University of Arizona, Tucson, USA
Am J Physiol Gastrointest Liver Physiol 299:G517-22. 2010....
Mutations in SLC45A2 cause plumage color variation in chicken and Japanese quailUlrika Gunnarsson
Department of Medical Biochemistry and Microbiology, Uppsala University, SE 75124 Uppsala, Sweden
Genetics 175:867-77. 2007..It is an enigma why recessive null mutations at this locus cause an almost complete absence of both eumelanin and pheomelanin whereas some missense mutations are dominant and cause a specific inhibition of pheomelanin production...
Variations in equid SLC11A1 (NRAMP1) genes and associations with Rhodococcus equi pneumonia in horsesNatalie D Halbert
Department of Large Animal Clinical Sciences, College of Veterinary Medicine and Biomedical Sciences, Texas A and M University, College Station 77843 4475, USA
J Vet Intern Med 20:974-9. 2006..equi foal pneumonia and other intracellular bacterial diseases affecting equids...
Subtype-specific regulation of equilibrative nucleoside transporters by protein kinase CK2Meaghan Stolk
Department of Physiology and Pharmacology, University of Western Ontario, London, Ontario, Canada N6A 5C1
Biochem J 386:281-9. 2005....
Rod outer segment membrane guanylate cyclase type 1-linked stimulatory and inhibitory calcium signaling systems in the pineal gland: biochemical, molecular, and immunohistochemical evidenceV Venkataraman
The Unit of Regulatory and Molecular Biology, Departments of Cell Biology and Ophthalmology, University of Medicine and Dentistry of New Jersey, Stratford, New Jersey 08084, USA
Biochemistry 39:6042-52. 2000..The presence of ROS-GC2 was not detected in the pineal gland...
Analysis and update of the human solute carrier (SLC) gene superfamilyLei He
Massachusetts General Hospital Cancer Center and Harvard Medical School, Boston, MA 02114, USA
Hum Genomics 3:195-206. 2009..Understanding and characterising the functions of these transporters is relevant to medicine, genetics, developmental biology, pharmacology and cancer chemotherapy...
Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactionsAbee L Boyles
Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA
Environ Health Perspect 114:1547-52. 2006..Most studies addressed these genes individually, often with different populations providing conflicting results...
Vitamin D binding protein genotype and osteoporosisYue Fang
Department of Internal Medicine, Erasmus Medical Center, Genetic Laboratory, Rotterdam, The Netherlands
Calcif Tissue Int 85:85-93. 2009..Haplotypes of the DBP SNPs correspond to protein variations referred to as Gc1s (haplotype 1), Gc2 (haplotype 2), and Gc1f (haplotype3)...
Functional insights into the creatine transporterDavid L Christie
Molecular, Cell and Developmental Biology Section, School of Biological Sciences, University of Auckland, Private Bag 92019, Auckland, New Zealand
Subcell Biochem 46:99-118. 2007..Development of suitable mouse models may allow improved understanding of the importance of the CRT for normal brain function and how the transporter is regulated in vivo...
Cloning and functional expression of the first eukaryotic Na+-tryptophan symporter, AgNAT6Ella A Meleshkevitch
Department of Physiology and Biophysics, Rosalind Franklin University of Medicine and Science, 3333 Green Bay Road, North Chicago, IL 60064, USA
J Exp Biol 212:1559-67. 2009....
The C-terminus of prestin influences nonlinear capacitance and plasma membrane targetingJing Zheng
Auditory Physiology Laboratory, Department of Communication Sciences and Disorders, Northwestern University, Evanston, IL 60208 USA
J Cell Sci 118:2987-96. 2005..Together, these data suggest that certain specific sequences and individual amino acids in the C-terminus are necessary for correct cellular distribution and function...
Solute carrier family 11 member A1 gene polymorphisms in reactive arthritisYi Jing Chen
Graduate Institute of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan
J Clin Immunol 27:46-52. 2007..The SLC 11A1 274T 823C 1703G 1729+55 del 4 TGTG+ haplotype is associated with the development of reactive arthritis in Taiwan. In contrast, the SLC 11A1 274C 823T 1703G 1729+55 del 4 TGTG+ haplotype may be a protective factor...
A perchlorate sensitive iodide transporter in frogsDeborah L Carr
Department of Cell Physiology and Molecular Biophysics, Texas Tech University Health Sciences Center, 3601 4th Street, Lubbock, TX 79430, USA
Gen Comp Endocrinol 156:9-14. 2008..We conclude that the amphibian sequence encodes a protein that is indeed a functional Na(+)/iodide symporter in X. laevis, as well as R. catesbeiana...
Human solute carrier SLC6A14 is the beta-alanine carrierCatriona M H Anderson
Institute for Cell and Molecular Biosciences, Faculty of Medical Sciences, University of Newcastle upon Tyne, Newcastle upon Tyne NE2 4HH, UK
J Physiol 586:4061-7. 2008....
Efficacy of in-feed probiotics against Aeromonas bestiarum and Ichthyophthirius multifiliis skin infections in rainbow trout (Oncorhynchus mykiss, Walbaum)N Pieters
School of Life Sciences, Heriot Watt University, Edinburgh, UK
J Appl Microbiol 105:723-32. 2008..The aim of this study was to assess the efficacy of in-feed probiotics as a preventive measure against skin infections caused by Aeromonas bestiarum and Ichthyophthirius multifiliis (Ich) in rainbow trout...
Female premenopausal fracture risk is associated with gc phenotypeAnna Lis Lauridsen
Department of Clinical Biochemistry, AKH, Aarhus University Hospital, Aarhus C, Denmark
J Bone Miner Res 19:875-81. 2004..This was concluded from a study on 595 Danish perimenopausal women 45-58 years of age (30,040 person years)...
Transport of dicationic drugs pentamidine and furamidine by human organic cation transportersXin Ming
Division of Molecular Pharmaceutics, Eshelman School of Pharmacy, 3309 Kerr Hall, CB 7360, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599 7360, USA
Drug Metab Dispos 37:424-30. 2009..These transporters may play important roles in the disposition of aromatic diamidines in humans, as well as resultant drug-drug interactions and toxicity involving diamidine drugs...
Expression of human organic cation transporter 3 in kidney carcinoma cell lines increases chemosensitivity to melphalan, irinotecan, and vincristineVolodymyr Shnitsar
Abteilung Vegetative Physiologie und Pathophysiologie, Georg August Universitat, Gottingen, Germany
Cancer Res 69:1494-501. 2009..Thus, our data support the hypothesis that the sensitivity of tumor cells to chemotherapeutic treatment depends on the expression of transporter proteins mediating specific drug accumulation into target cells...
Comprehensive two-dimensional gas chromatography combustion isotope ratio mass spectrometryHerbert J Tobias
Division of Nutritional Sciences, Cornell University, Savage Hall, Ithaca, New York 14853, USA
Anal Chem 80:8613-21. 2008..interface to preserve <300 ms full width at half-maximum (fwhm) fast GC peaks generated on the second GC column (GC2)...
Expression level and activity profile of membrane bound guanylate cyclase type 2 in rod outer segmentsAndreas Helten
Biochemistry Group, Institute of Biology and Environmental Sciences, Faculty V, Carl von Ossietzky University Oldenburg, Oldenburg, Germany
J Neurochem 103:1439-46. 2007..two types of a membrane bound guanylate cyclase (GC), rod outer segment guanylate cyclase type 1 (ROS-GC1) and ROS-GC2. Both enzymes are regulated by small Ca(2+)-binding proteins named GC-activating proteins that operate as Ca2+ ..
Pre-steady-state currents in neutral amino acid transporters induced by photolysis of a new caged alanine derivativeZhou Zhang
Department of Physiology and Biophysics, University of Miami School of Medicine, 1600 Northwest 10th Avenue, Miami, Florida 33136, USA
Biochemistry 46:3872-80. 2007..The implications of these results for the mechanisms of transmembrane transport of alanine are discussed. The new caged alanine derivative will provide a useful tool for future, more detailed studies of neutral amino acid transport...
Rescue from oculocutaneous albinism type 4 using medaka slc45a2 cDNA driven by its own promoterShoji Fukamachi
Department of Integrated Biosciences, University of Tokyo, Chiba, Japan
Genetics 178:761-9. 2008..Further studies of the 0.9-kb promoter identified in this study should provide insights into the cis/trans-regulatory mechanisms underlying the ocular and cutaneous expression of slc45a2...
Molecular analysis of the gene for the human vitamin-D-binding protein (group-specific component): allelic differences of the common genetic GC typesA Braun
Institut für Anthropologie und Humangenetik Universität, Munchen, Federal Republic of Germany
Hum Genet 89:401-6. 1992..The GC2 and GC1F phenotypes have an aspartic acid residue at amino acid position 416, whereas the GC1S phenotype has a ..
Ascorbic-acid transporter Slc23a1 is essential for vitamin C transport into the brain and for perinatal survivalSotiria Sotiriou
Genetic Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
Nat Med 8:514-7. 2002..Deficiency of the transporter is lethal in newborn mice, thereby revealing a previously unrecognized requirement for ascorbic acid in the perinatal period...
Clinical implications of pharmacogenetic variation on the effects of statinsSimran D S Maggo
Department of Pharmacology and Toxicology, School of Medical Sciences, University of Otago, Dunedin, New Zealand
Drug Saf 34:1-19. 2011....
Role of major histocompatibility complex class II in resistance of mice to naturally acquired infection with Syphacia obvelataPatricia W Stewart
Department of Diagnostic Medicine and Pathobiology, College of Veterinary Medicine, 1800 Denison Ave, Kansas State University, Manhattan, Kansas 66506, USA
Comp Med 53:70-4. 2003..obvelata. These data justify further comprehensive analyses of the immune components that are involved in pinworm resistance...
Complex profiles of hydrophobic paralytic shellfish poisoning compounds in Gymnodinium catenatum identified by liquid chromatography with fluorescence detection and mass spectrometryPaulo Vale
Instituto Nacional dos Recursos Biologicos IPIMAR, Avenida de Brasília s n, 1449 006 Lisbon, Portugal
J Chromatogr A 1195:85-93. 2008..fractions by LC-MS demonstrated the second sub-group was constituted by analogues of the 11-hydroxysulfated GC1/GC2, while the third sub-group was constituted by analogues of GC3, which lack the 11-hydroxysulfate...
Involvement of human multidrug and toxin extrusion 1 in the drug interaction between cimetidine and metformin in renal epithelial cellsMasahiro Tsuda
Department of Pharmacy, Kyoto University Hospital, Sakyo ku, Kyoto 606 8507, Japan
J Pharmacol Exp Ther 329:185-91. 2009..These results suggest that apical hMATE1 is involved in drug interactions between cimetidine and cationic compounds in the proximal tubular epithelial cells...
Associations of a non-synonymous variant in SLC2A9 with gouty arthritis and uric acid levels in Han Chinese subjects and Solomon IslandersHung Pin Tu
Graduate Institute of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan
Ann Rheum Dis 69:887-90. 2010..To study the associations of gout, tophi and uric acid levels with the gout-related SLC2A9 (solute carrier family 2, member 9) single nucleotide polymorphisms (SNPs) between two different racial groups...
Hepatocyte nuclear factor-4alpha and bile acids regulate human concentrative nucleoside transporter-1 gene expressionKerstin Klein
Division of Clinical Pharmacology and Toxicology, Department of Internal Medicine, University Hospital, Ramistrasse 100, CH 8091 Zurich, Switzerland
Am J Physiol Gastrointest Liver Physiol 296:G936-47. 2009..Supporting the physiological relevance and species conservation of this effect, ileal Cnt1 mRNA expression was decreased upon bile acid feeding and increased upon bile duct ligation in mice...
Function and mechanism of action of Dictyostelium Nramp1 (Slc11a1) in bacterial infectionBarbara Peracino
Department of Clinical and Biological Sciences, University of Turin, Orbassano, Italy
Traffic 7:22-38. 2006..pneumophila infection. Evidence is provided that Nramp1 transports metal cations out of the phagolysosome in an ATP-dependent process and that L. pneumophila and M. avium use different mechanisms to neutralize Nramp1 activity...
Functionally important amino acids in the Arabidopsis thylakoid phosphate transporter: homology modeling and site-directed mutagenesisLorena Ruiz-Pavón
Division of Molecular Genetics, Department of Physics, Chemistry, and Biology, Linkoping University, Linkoping, Sweden
Biochemistry 49:6430-9. 2010..Functional characterization of ANTR1 should provide useful insights into the function of other plant and mammalian SLC17 homologous transporters...
Complex multifactorial nature of significant hyperbilirubinemia in neonatesJon F Watchko
Division of Newborn Medicine, Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA
Pediatrics 124:e868-77. 2009....
The function of guanylate cyclase 1 and guanylate cyclase 2 in rod and cone photoreceptorsWolfgang Baehr
Department of Ophthalmology and Visual Sciences, University of Utah, Salt Lake City, Utah 84112, USA
J Biol Chem 282:8837-47. 2007Retinal guanylate cyclases 1 and 2 (GC1 and GC2) are responsible for synthesis of cyclic GMP in rods and cones, but their individual contributions to phototransduction are unknown...
The solute carrier 44A1 is a mitochondrial protein and mediates choline transportVera Michel
Department of Human Health and Nutritional Sciences, University of Guelph, Guelph, ON, N1G 2W1, Canada
FASEB J 23:2749-58. 2009..SLC44A1 mRNA and protein expression were down-regulated during choline deficiency. These data clearly establish SLC44A1 as an important mediator of choline transport across both the plasma membrane and the mitochondrial membrane...
Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intoleranceMaria Pia Sperandeo
Dept of Pediatrics, Federico II University, Via Sergio Pansini 5, 80131 Naples, Italy
Am J Physiol Cell Physiol 293:C191-8. 2007..This mouse model offers new insights into the pathophysiology of LPI and into mechanisms linking CAA metabolic pathways and growth control...
The expression of ferritin, lactoferrin, transferrin receptor and solute carrier family 11A1 in the host response to BCG-vaccination and Mycobacterium tuberculosis challengeR E Thom
Microbiological Services, HPA Porton Down, Salisbury SP4 0JG, UK
Vaccine 30:3159-68. 2012..tuberculosis infection and that BCG-vaccination enhances the ability of the host to mount an iron-restriction response which may in turn help to combat invasion by mycobacteria...
Identification and characterization of a novel monoamine transporter in the human brainKaren Engel
Department of Pharmaceutics, University of Washington, Seattle, Washington 98195, USA
J Biol Chem 279:50042-9. 2004..These studies demonstrate that PMAT may be a novel low affinity transporter for biogenic amines, which, under certain conditions, might supplement the role of the high affinity transporters in the brain...
25-hydroxyvitamin D, vitamin D receptor gene polymorphisms, and severity of Parkinson's diseaseMasahiko Suzuki
Department of Neurology, Jikei University School of Medicine, Tokyo, Japan
Mov Disord 27:264-71. 2012..rs11568820), ApaI (rs7976091), and TaqI (rs731236), and vitamin D binding protein gene polymorphisms GC1 (rs7041)/GC2 (rs4588) in a cross-sectional study. Mean ± standard deviation levels of 25-hydroxyvitamin D were 21.1 ± 9...
Isoforms of SLC26A6 mediate anion transport and have functional PDZ interaction domainsHannes Lohi
Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Finland
Am J Physiol Cell Physiol 284:C769-79. 2003..Our results support the general concept of microdomain organization for ion transport and suggest a mechanism for cystic fibrosis transmembrane regulator (CFTR)-mediated SLC26A6 upregulation in pancreatic duct cells...
Association analyses of candidate single nucleotide polymorphisms on reproductive traits in swineL A Rempel
USDA, ARS, US Meat Animal Research Center, Clay Center, NE 68933 0166, USA
J Anim Sci 88:1-15. 2010..Furthermore, these production and growth trait SNP may serve to assist in selection of young females for superior reproductive performance...
Expression of organic cation transporters OCT1 (SLC22A1) and OCT3 (SLC22A3) is affected by genetic factors and cholestasis in human liverAnne T Nies
Dr Margarete Fischer Bosch Institute of Clinical Pharmacology, Stuttgart, Germany
Hepatology 50:1227-40. 2009..This indicates consequences for hepatic elimination of and response to OCT substrates such as metformin...
A putative amino acid transporter of the solute carrier 6 family is upregulated by lithium and is required for resistance to lithium toxicity in DrosophilaJ Kasuya
Department of Anesthesia, Carver College of Medicine, University of Iowa, 1 316 BSB, 51 Newton Road, Iowa City, IA 52242, USA
Neuroscience 163:825-37. 2009..Our results have provided a new avenue of investigation toward a better understanding of the molecular and cellular mechanisms that underlie lithium-responsive neurobiological process...
The glial glutamate transporter 1 (GLT1) is expressed by pancreatic beta-cells and prevents glutamate-induced beta-cell deathEliana S Di Cairano
Department of Molecular Science Applied to Biosystems, Universita degli Studi di Milano, 20134 Milan, Italy
J Biol Chem 286:14007-18. 2011....
Adenosine transport by plasma membrane monoamine transporter: reinvestigation and comparison with organic cationsMingyan Zhou
University of Washington, Health Sciences Building, Seattle, WA 98195 7610, USA
Drug Metab Dispos 38:1798-805. 2010..Functionally, PMAT should be viewed as a polyspecific organic cation transporter rather than an archetypical nucleoside transporter...
SLC6 neurotransmitter transporters: structure, function, and regulationAnders S Kristensen
Department of Medicinal Chemistry, Faculty of Pharmaceutical Sciences, University of Copenhagen, Copenhagen, Denmark
Pharmacol Rev 63:585-640. 2011..This review provides an update of these advances and their implications for the current understanding of the SLC6 NTTs...
The SLC36 family of proton-coupled amino acid transporters and their potential role in drug transportDavid T Thwaites
Epithelial Research Group, Institute for Cell and Molecular Biosciences, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK
Br J Pharmacol 164:1802-16. 2011....
Glial solute carrier transporters in Drosophila and miceDavid E Featherstone
Department of Biological Sciences, University of Illinois at Chicago, Chicago, Illinois, USA
Glia 59:1351-63. 2011..This article lists and discusses SLC transporter family members that are expressed in both mouse and Drosophila glia, in an effort to provide a foundation for studies of glial SLC transporters using Drosophila as a model...
Mutation of the Na(+)-K(+)-2Cl(-) cotransporter NKCC2 in mice is associated with severe polyuria and a urea-selective concentrating defect without hyperreninemiaElisabeth Kemter
Molecular Animal Breeding and Biotechnology, and Laboratory for Functional Genome Analysis LAFUGA, Gene Center, LMU Munich, Munich, Germany
Am J Physiol Renal Physiol 298:F1405-15. 2010..In conclusion, this novel viable mouse line with a missense Slc12a1 mutation exhibits most of the features of type I Bartter syndrome and may represent a new model for the study of this human disease...
Recruitment of SWI/SNF complex is required for transcriptional activation of the SLC11A1 gene during macrophage differentiation of HL-60 cellsYong Zhong Xu
Division of Experimental Medicine, Department of Medicine, Montreal General Hospital Research Institute, McGill University, Montreal, Quebec H3G 1A4, Canada
J Biol Chem 286:12839-49. 2011..Our results demonstrated that recruitment of the SWI/SNF complex initiated Z-DNA formation and subsequently helped to transactivate the SLC11A1 gene...
Cysteine mutagenesis reveals transmembrane residues associated with charge translocation in prestinRyan M McGuire
Department of Bioengineering, Rice University, Houston, Texas 77005, USA
J Biol Chem 285:3103-13. 2010....
Gene knockout and metabolome analysis of carnitine/organic cation transporter OCTN1Yukio Kato
Division of Pharmaceutical Sciences, Graduate School of Natural Science and Technology, Kanazawa University, Kanazawa, 920 1192, Japan
Pharm Res 27:832-40. 2010..Solute carrier OCTN1 (SLC22A4) is an orphan transporter, the physiologically important substrate of which is still unidentified. The aim of the present study was to examine physiological roles of OCTN1...
Genetic inactivation of the vesicular glutamate transporter 2 (VGLUT2) in the mouse: what have we learnt about functional glutamatergic neurotransmission?Asa Wallen-Mackenzie
Department of Neuroscience, Unit of Developmental Genetics, Biomedical Center, Box 593, Uppsala University, S 751 24 Uppsala, Sweden
Ups J Med Sci 115:11-20. 2010..We review the recent studies in which mouse genetics have been used to characterize the functional role of VGLUT2 in the central nervous system...
Identification of steroid sulfate transport processes in the human mammary glandF Pizzagalli
Division of Clinical Pharmacology and Toxicology, Department of Internal Medicine, University Hospital of Zurich, Switzerland
J Clin Endocrinol Metab 88:3902-12. 2003....
Distribution of Diego blood group alleles and identification of four novel mutations on exon 19 of SLC4A1 gene in the Chinese Han population by polymerase chain reaction sequence-based typingX G Xu
Blood Center of Zhejiang Province, Hangzhou, Zhejiang, China
Vox Sang 100:317-21. 2011..Here, we set up a polymerase chain reaction sequence-based typing (PCR-SBT) method for genotyping of Diego blood group alleles...
Identification of single nucleotide polymorphisms in the bovine solute carrier family 11 member 1 (SLC11A1) gene and their association with infection by Mycobacterium avium subspecies paratuberculosisO Ruiz-Larrañaga
Genetics, Physical Anthropology, and Animal Physiology Department, University of the Basque Country, Sarriena s n, 48940 Leioa, Bizkaia, Spain
J Dairy Sci 93:1713-21. 2010..Our results suggest that SNP c.1067C>G may be a potential causal variant, although functional studies are needed to assure this point...
The C-terminal domain of the neutral amino acid transporter SNAT2 regulates transport activity through voltage-dependent processesZhou Zhang
College of Life and Environment Sciences, Shanghai Normal University, 100 Guilin Road, Shanghai, 200234, China
Biochem J 434:287-96. 2011..However, the C-terminus appears not to be involved in the regulation of membrane expression...
The solute carrier families have a remarkably long evolutionary history with the majority of the human families present before divergence of Bilaterian speciesPär J Höglund
Department of Neuroscience, Functional Pharmacology, Uppsala University, Uppsala, Sweden
Mol Biol Evol 28:1531-41. 2011..The results provide foundation for overall classification of SLC genes and are valuable for annotation and prediction of substrates for the many SLCs that have not been tested in experimental transport assays...
Identification of inhibitor concentrations to efficiently screen and measure inhibition Ki values against solute carrier transportersXiaowan Zheng
Department of Pharmaceutical Sciences, School of Pharmacy, University of Maryland, 20 Penn Street, Baltimore, MD 21201, USA
Eur J Pharm Sci 41:43-52. 2010..This approach is advantageous in that minimal compound is needed to perform studies and accommodates compounds with low aqueous solubility...
IRBIT governs epithelial secretion in mice by antagonizing the WNK/SPAK kinase pathwayDongki Yang
The Epithelial Signaling and Transport Section, Molecular Physiology and Therapeutics Branch, National Institute of Dental and Craniofacial Research, NIH, Bethesda, Maryland 20892, USA
J Clin Invest 121:956-65. 2011..They also have implications for WNK/SPAK kinase-regulated processes involved in systemic fluid homeostasis, hypertension, and cystic fibrosis...
Diet-induced epigenetic regulation in vivo of the intestinal fructose transporter Glut5 during development of rat small intestineTakuji Suzuki
Department of Pharmacology and Physiology, University of Medicine and Dentistry of New Jersey, New Jersey Medical School, 185 South Orange Avenue, Newark, NJ 07103, USA
Biochem J 435:43-53. 2011....
CDX transcription factors positively regulate expression of solute carrier family 5, member 8 in the colonic epitheliumFumihiko Kakizaki
Department of Pharmacology, Graduate School of Medicine, Kyoto University, Sakyo, Kyoto, Japan
Gastroenterology 138:627-35. 2010..Because the functions of CDX1 and CDX2 in the colonic epithelium are not fully understood, we sought to identify genes that they target...
Role of an extracellular loop in determining the stoichiometry of Na+-HCO₃⁻ cotransportersLi Ming Chen
Department of Biological Science, Key Laboratory of Molecular Biophysics of Ministry of Education, Huazhong University of Science and Technology School of Life Science and Technology, 1037 Luoyu Road, Wuhan, Hubei Province 430074, P R China
J Physiol 589:877-90. 2011..We hypothesize that putative EL4 either contributes to the substrate-binding vestibule or indirectly influences substrate binding by interacting with one or more transmembrane segments, thereby controlling the nature of transport...
MODY7 gene, KLF11, is a novel p300-dependent regulator of Pdx-1 (MODY4) transcription in pancreatic islet beta cellsMartin E Fernandez-Zapico
Schulze Center for Novel Therapeutics, Mayo Clinic, Rochester, Minnesota 55905, USA
J Biol Chem 284:36482-90. 2009..These regulatory elements, termed GC1 (human base pair -2061/-2055) and GC2 (-2036/-2027), are also nearly identical to the consensus KLF11 binding sequence defined here by random ..
Cis-acting elements responsible for dopaminergic neuron-specific expression of zebrafish slc6a3 (dopamine transporter) in vivo are located remote from the transcriptional start siteQ Bai
Pittsburgh Institute for Neurodegenerative Diseases, University of Pittsburgh School of Medicine, Pittsburgh, PA 15217, USA
Neuroscience 164:1138-51. 2009....
Enhanced survival in vitro of human corneal endothelial cells using mouse embryonic stem cell conditioned mediumXiaoyan Lu
State Key Laboratory of Ophthalmology, Sun Yat Sen University, Guangzhou, PR China
Mol Vis 16:611-22. 2010..To determine whether mouse embryonic stem cell conditioned medium (ESC-CM) increases the proliferative capacity of human corneal endothelial cells (HCECs) in vitro...
Culture-induced changes in blood-brain barrier transcriptome: implications for amino-acid transporters in vivoRuth Lyck
Theodor Kocher Institute, University of Bern, Bern, Switzerland
J Cereb Blood Flow Metab 29:1491-502. 2009..We hypothesized that the AA transporters highly expressed in ppMBMECs and downregulated in culture have a major in vivo function for BBB transendothelial transport...
Association testing of the positional and functional candidate gene SLC1A1/EAAC1 in early-onset obsessive-compulsive disorderDiane E Dickel
Department of Human Genetics, University of Chicago, Chicago, IL, USA
Arch Gen Psychiatry 63:778-85. 2006....
Analysis of the oligomeric structure of the motor protein prestinJing Zheng
Department of Communication Sciences and Disorders, Northwestern University, Evanston, Illinois 60208, USA
J Biol Chem 281:19916-24. 2006..This stable dimer may act as the building block for producing the higher order oligomers that form the approximately 11-nM particles in the outer hair cell's basolateral membrane...
[A difficult and complicated case study: neonatal intrahepatic cholestasis caused by citrin deficiency]Yuan Zong Song
Department of Pediatrics, First Affiliated Hospital, Jinan University, Guangzhou 510632, China
Zhongguo Dang Dai Er Ke Za Zhi 8:125-8. 2006..SLC25A13 gene mutation analysis for the patient revealed a compound heterozygote of mutation 851del4 and 1638ins23 and therefore NICCD was definitely diagnosed...
The solute carrier family SLC10: more than a family of bile acid transporters regarding function and phylogenetic relationshipsJ Geyer
Institut fur Pharmakologie und Toxikologie, Justus Liebig Universitat Giessen, Frankfurter Strasse 107, 35392, Giessen, Germany
Naunyn Schmiedebergs Arch Pharmacol 372:413-31. 2006....
Study of the role of functional variants of SLC22A4, RUNX1 and SUMO4 in systemic lupus erythematosusG Orozco
Instituto de Parasitologia y Biomedicina, CSIC, Granada, Spain
Ann Rheum Dis 65:791-5. 2006..Functional polymorphisms of the solute carrier family 22, member 4 (SLC22A4), runt related transcription factor 1 (RUNX1) and small ubiquitin-like modifier 4 (SUMO4) genes have been shown to be associated with several autoimmune diseases...
A family based study implicates solute carrier family 1-member 3 (SLC1A3) gene in attention-deficit/hyperactivity disorderDarko Turic
Department of Psychological Medicine, Cardiff University, School of Medicine, Heath Park, Cardiff, United Kingdom
Biol Psychiatry 57:1461-6. 2005..SLC1A3 is thus both a functional and positional candidate gene for ADHD...
Ethnic differences in allele frequency of autoimmune-disease-associated SNPsMikako Mori
Laboratory for Rheumatic Diseases, SNP Research Center, The Institute of Physical and Chemical Research, 1 7 22 Suehiro cho, Tsurumi ku, Yokohama, Kanagawa 230 0045, Japan
J Hum Genet 50:264-6. 2005..Our data suggest that ethnic variations of polymorphisms should be evaluated in detail, and differences should be incorporated into investigations of susceptibility variants for common diseases...
A risk haplotype in the Solute Carrier Family 22A4/22A5 gene cluster influences phenotypic expression of Crohn's diseaseBill Newman
Department of Medicine, University of Toronto, Toronto, Ontario, Canada
Gastroenterology 128:260-9. 2005..Here we examine the contribution of this susceptibility haplotype alone and in combination with CARD15 variants to CD subphenotypes and to susceptibility to ulcerative colitis (UC)...
Expression of the SLC11A1 (NRAMP1) 5'-(GT)n repeat: opposite effect in the presence of -237C-->TMonique G Zaahl
Department of Genetics, University of Stellenbosch, Stellenbosch, South Africa
Blood Cells Mol Dis 33:45-50. 2004....
Disruption of transport activity in a D93H mutant thiamine transporter 1, from a Rogers Syndrome familyDana Baron
Department of Molecular Genetics, The Rappaport Institute for Research in the Medical Sciences and the B Rappaport Faculty of Medicine, Haifa, Israel
Eur J Biochem 270:4469-77. 2003..Hence, this functional characterization of the D93H mutation provides a molecular basis for Rogers syndrome...
Identification of the mitochondrial glutamate transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoformsGiuseppe Fiermonte
Department of Pharmaco Biology, Laboratory of Biochemistry and Molecular Biology, University of Bari, Via E Orabona 4, 70125 Bari, Italy
J Biol Chem 277:19289-94. 2002....
Analysis of the cat eye syndrome critical region in humans and the region of conserved synteny in mice: a search for candidate genes at or near the human chromosome 22 pericentromereT K Footz
Department of Biological Sciences, University of Alberta, Edmonton, Alberta T6G 2E9, Canada
Genome Res 11:1053-70. 2001....
Functional analysis of novel mutations in y(+)LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI)J Mykkänen
Department of Medical Genetics, Institute of Biomedicine, University of Turku, Kiinamyllynkatu 10, FIN 20520 Turku, Finland
Hum Mol Genet 9:431-8. 2000..This finding, together with the strong degree of conservation among all members of this family of amino acid transporters, indicates that residues L334 and G54 play a crucial role in the function of the y(+)LAT-1 transporter...
Cloning of the mouse and human solute carrier 22a3 (Slc22a3/SLC22A3) identifies a conserved cluster of three organic cation transporters on mouse chromosome 17 and human 6q26-q27S Verhaagh
Department of Molecular Genetics H5, The Netherlands Cancer Institute, Plesmanlaan 121, Amsterdam, 1066CX, The Netherlands
Genomics 55:209-18. 1999..SLC22A1 and SLC22A2 localized to the same locus, demonstrating the conservation of the close physical linkage of these three organic cation transporter genes in mouse and human...
Calcium modulated signaling site in type 2 rod outer segment membrane guanylate cyclase (ROS-GC2)R M Goraczniak
Department of Cell Biology, University of Medicine and Dentistry of New Jersey, Stratford 08084, USA
Biochem Biophys Res Commun 245:447-53. 1998The ROS-GC subfamily of membrane guanylate cyclases is at present represented by two members: ROS-GC1 and ROS-GC2. A unique functional feature of this subfamily is that it is intracellularly modulated in low Ca2+ concentration by ..
Molecular cloning of a peroxisomal Ca2+-dependent member of the mitochondrial carrier superfamilyF E Weber
Klinik für Gesichts und Kieferchirurgie, Universitatsspital Zurich, Frauenklinikstrasse 10, 8091 Zurich, Switzerland
Proc Natl Acad Sci U S A 94:8509-14. 1997..Immunoelectron microscopy localized the transporter in the peroxisome, although a minor fraction was found in the mitochondria. The Ca2+ binding N-terminal half of the transporter faces the cytosol...
SLC41A2 encodes a plasma-membrane Mg2+ transporterJaya Sahni
Department of Pediatrics, University of Washington, and Children s Hospital and Regional Medical Center, Suite 300, 307 Westlake Avenue North, Seattle, WA 98195, USA
Biochem J 401:505-13. 2007..Overall, our results suggest that SLC41A2 functions as a plasma-membrane Mg2+ transporter in vertebrate cells...
Anti-inflammatory effects of zinc and alterations in zinc transporter mRNA in mouse models of allergic inflammationCarol Lang
Department of Medicine, University of Adelaide, The Queen Elizabeth Hospital, Woodville, South Australia, Australia
Am J Physiol Lung Cell Mol Physiol 292:L577-84. 2007..The reduction of inflammatory cells by Zn in the airways provides support for Zn supplementation trials in human asthmatic individuals...
Research Grants
- Membrane Protein Trafficking in PhotoreceptorsWolfgang Baehr; Fiscal Year: 2010..In GC1/GC2 double knockout rods, PDE6 failed to transport whereas transducin (T) and opsin kinase (GRK1) were unaffected...
- Defining Antigenic Targets of Autoimmune Sensorineural Hearing LossThomas E Carey; Fiscal Year: 2010..It will lead to better diagnostic tests, better treatment through novel strategies based on knowledge, better surveillance of affected individuals and control of a process that destroys a person's ability to communicate. ..
- PHARMACOGENETICS OF MEMBRANE TRANSPORTERSKathleen Giacomini; Fiscal Year: 2007..These hypothesis generating studies will provide a framework for understanding the role of genetic variation in membrane transporters on clnical drug response. ..
- PHARMACOGENETICS OF MEMBRANE TRANSPORTERSKathleen Giacomini; Fiscal Year: 2007..These hypothesis generating studies will provide a framework for understanding the role of genetic variation in membrane transporters on clnical drug response. ..
- Structural Biology of the Apical Bile Acid Transporter.Peter Swaan; Fiscal Year: 2009....
- Structural Biology of the Apical Bile Acid Transporter.Peter W Swaan; Fiscal Year: 2010....
- Studies of Erythrocyte Membrane StructurePhilip Stewart Low; Fiscal Year: 2010..Our research seeks to understand the molecular basis of each of these important functions, and where possible, to define clinical interventions that might enable treatment of conditions where the above processes malfunction. ..
- Studies of Erythrocyte Membrane StructurePhilip Low; Fiscal Year: 2009..Our research seeks to understand the molecular basis of each of these important functions, and where possible, to define clinical interventions that might enable treatment of conditions where the above processes malfunction. ..
- A Mouse Model of Acrodermatitis EnteropathicaGlen K Andrews; Fiscal Year: 2010..In a global sense, these studies will contribute to our basic understanding of the molecular mechanisms governing the homeostasis of the essential metal zinc in mammals. ..
- A Mouse Model of Acrodermatitis EnteropathicaGlen Andrews; Fiscal Year: 2009..In a global sense, these studies will contribute to our basic understanding of the molecular mechanisms governing the homeostasis of the essential metal zinc in mammals. ..
- Pathophysiology of thiamine-responsive anemia syndromeEllis Neufeld; Fiscal Year: 2006....
- TRANSPORT GENE EXPRESSION AND DRUG ACCUMULATION IN MILKPatrick McNamara; Fiscal Year: 2004..The identification of the mammary epithelial carrier proteins, their genes, and factors that control their regulation are the ultimate, long-term goals of this research program. ..
- Mammalian Phototransduction: Role of cGMP and CalciumWolfgang Baehr; Fiscal Year: 2007Photoreceptor guanylate cyclases (GC1 and GC2) produce cGMP, the internal messenger of phototransduction. Cations, mediated by Ca2+-binding proteins termed guanylate cyclase activating proteins (GCAPs), regulate their activities...
- Functional analysis of thyroidal iodide transportersMARY GILLAM; Fiscal Year: 2007..Together, these studies will provide fundamental insights into the (patho)physiology of these two apical thyroid transporters and deepen our understanding of iodide transport in the thyroid. ..
- Role of the Solute Carrier Gene Family in HypertensionAlanna C Morrison; Fiscal Year: 2010....
- Substrate requirements of the bile acid transporterJAMES POLLI; Fiscal Year: 2007..This systematic and progressive approach will serve as a prototypical method to elucidate the substrate requirements of other solute carrier (SLC) proteins. ..
- Substrate requirements of the bile acid transporterJAMES POLLI; Fiscal Year: 2009..This systematic and progressive approach will serve as a prototypical method to elucidate the substrate requirements of other solute carrier (SLC) proteins. ..
- Frascati: mitochondrial transporter and erythropoiesisBarry Paw; Fiscal Year: 2007..Insight into the function of the frascati gene will be directly relevant to our understanding of human disorders of iron deficiency anemia and iron-overload. ..
- Frascati: mitochondrial transporter and erythropoiesisBarry H Paw; Fiscal Year: 2010..Insight into the function of the frascati gene will be directly relevant to our understanding of human disorders of iron deficiency anemia and iron-overload. ..
- Molecular Genetics of Cadmium ToxicityDaniel Nebert; Fiscal Year: 2009....
- Molecular Genetics of Cadmium ToxicityDaniel Nebert; Fiscal Year: 2007....
- Mouse Models of Vitamin Transport DefectsJudith Fleming; Fiscal Year: 2004..abstract_text> ..
- Molecular Genetics of Cadmium ToxicityDaniel W Nebert; Fiscal Year: 2010....
- Mammalian metal transporters & Salmonella infectionBOBBY CHERAYIL; Fiscal Year: 2006..These studies will identify new aspects of the Salmonella-host cell interaction, shed light on the role of mammalian metal transporters in Salmonella infection, and suggest novel approaches to treating salmonellosis. ..
- Mammalian Phototransduction: Role of cGMP and CalciumWolfgang Baehr; Fiscal Year: 2006..Additional questions concern the roles of GCAP2 and GC2 in phototransduction...
- Mammalian Phototransduction: Role of cGMP and CalciumWolfgang Baehr; Fiscal Year: 2003..Additional questions concern the roles of GCAP2 and GC2 in phototransduction...
- Adrenergic Receptor Linked ROS-GC Neurosensory SignalingRameshwar Sharma; Fiscal Year: 2006..ROS-GC exists in three forms: ROS-GC1, ROS-GC2 and ONE-GC...
- VIRUS & IMMUNE INJURY TO VESSEL WALL CELLSHarvey Friedman; Fiscal Year: 1993..Purified gCl and gC2 bind C3b, and protect cell free virus from C'-mediated neutralization...
- GUANYLATE CYCLASE TRANSDUCTION SYSTEMS IN RETINARameshwar Sharma; Fiscal Year: 2002..CRM2 to S100beta and CRM3 to GCAP2. A second form of ROS-GC, ROS-GC2, has been cloned from the retina, and is also Ca/2+ modulated, suggesting its linkage to phototransduction...
- Function and structure of pendrin in thyroid cellsPeter Kopp; Fiscal Year: 2007..These studies will provide fundamental insights into the (patho)physiology of this novel anion transporter that has important functions in the thyroid, the kidney and the inner ear. ..
- Frascati-mediated Iron Metabolism in ErythroblastsBarry Paw; Fiscal Year: 2007..Specific Aim 2: A comparative transcriptome analysis of zebrafish embryos and mouse cells deficient for the frascati transporter will be conducted. ..
- Function and structure of pendrin in thyroid cellsPeter Kopp; Fiscal Year: 2003..These studies will provide fundamental insights into the (patho) physiology of this novel anion transporter that has important functions in the thyroid, the kidney and the inner ear. ..
