SLC22A4

Summary

Gene Symbol: SLC22A4
Description: solute carrier family 22 member 4
Alias: DFNB60, OCTN1, solute carrier family 22 member 4, ET transporter, deafness, autosomal recessive 60, ergothioneine transporter, integral membrane transport protein, organic cation/carnitine transporter 1, solute carrier family 22 (organic cation/ergothioneine transporter), member 4, solute carrier family 22 (organic cation/zwitterion transporter), member 4
Species: human
Products:     SLC22A4

Top Publications

  1. Tamai I, Yabuuchi H, Nezu J, Sai Y, Oku A, Shimane M, et al. Cloning and characterization of a novel human pH-dependent organic cation transporter, OCTN1. FEBS Lett. 1997;419:107-11 pubmed
    cDNA for a novel proton/organic cation transporter, OCTN1, was cloned from human fetal liver and its transport activity was investigated...
  2. Tokuhiro S, Yamada R, Chang X, Suzuki A, Kochi Y, Sawada T, et al. An intronic SNP in a RUNX1 binding site of SLC22A4, encoding an organic cation transporter, is associated with rheumatoid arthritis. Nat Genet. 2003;35:341-8 pubmed
    ..report that there is significant association between rheumatoid arthritis and the organic cation transporter gene SLC22A4 (P = 0.000034)...
  3. Martinez A, Valdivia A, Pascual Salcedo D, Balsa A, Fernandez Gutierrez B, de la Concha E, et al. Role of SLC22A4, SLC22A5, and RUNX1 genes in rheumatoid arthritis. J Rheumatol. 2006;33:842-6 pubmed
    Excessively suppressed expression of the SLC22A4 gene by RUNX1 is associated with the pathogenesis of rheumatoid arthritis (RA). Two etiological polymorphisms in the RUNX1 and SLC22A4 genes have been defined in a Japanese population...
  4. Kato Y, Kubo Y, Iwata D, Kato S, Sudo T, Sugiura T, et al. Gene knockout and metabolome analysis of carnitine/organic cation transporter OCTN1. Pharm Res. 2010;27:832-40 pubmed publisher
    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...
  5. Smyth D, Howson J, Payne F, Maier L, Bailey R, Holland K, et al. Analysis of polymorphisms in 16 genes in type 1 diabetes that have been associated with other immune-mediated diseases. BMC Med Genet. 2006;7:20 pubmed
    ..gene regions, namely FCRL3, CFH, SLC9A3R1, PADI4, RUNX1, SPINK5, IL1RN, IL1RA, CARD15, IBD5-locus (including SLC22A4), LAG3, ADAM33 and NFKB1...
  6. Silverberg M. OCTNs: will the real IBD5 gene please stand up?. World J Gastroenterol. 2006;12:3678-81 pubmed
    ..A recent report identified polymorphisms in SLC22A4 (OCTN1) and SLC22A5 (OCTN2) as being responsible for the IBD5 association, however, these findings have not been ..
  7. Fisher S, Hampe J, Onnie C, Daly M, Curley C, Purcell S, et al. Direct or indirect association in a complex disease: the role of SLC22A4 and SLC22A5 functional variants in Crohn disease. Hum Mutat. 2006;27:778-85 pubmed
    ..Recently, two functional variants within the SLC22A4 and SLC22A5 genes at this locus (IBD5), L503F (c.1507C > T) and G-207C (c...
  8. Gründemann D, Harlfinger S, Golz S, Geerts A, Lazar A, Berkels R, et al. Discovery of the ergothioneine transporter. Proc Natl Acad Sci U S A. 2005;102:5256-61 pubmed
    ..gt;100 times more efficiently than tetraethylammonium and carnitine, we propose the functional name ETT (ET transporter) instead of OCTN1...
  9. Török H, Glas J, Tonenchi L, Lohse P, Muller Myhsok B, Limbersky O, et al. Polymorphisms in the DLG5 and OCTN cation transporter genes in Crohn's disease. Gut. 2005;54:1421-7 pubmed
    ..The polymorphisms in DLG5 (113 G-->A, 4136 C-->A, and DLG5_e26), SLC22A4 (1672 C-->T), and SLC22A5 (-207 G-->C) were assessed in 625 patients with Crohn's disease (CD), 363 ..

More Information

Publications172 found, 100 shown here

  1. Martinez A, Martín M, Mendoza J, Taxonera C, Diaz Rubio M, De la Concha E, et al. Association of the organic cation transporter OCTN genes with Crohn's disease in the Spanish population. Eur J Hum Genet. 2006;14:222-6 pubmed
    The SLC22A4 and SLC22A5 genes within the IBD5 risk locus encode the organic cation transporters OCTN1 and OCTN2...
  2. Noble C, Nimmo E, Drummond H, Ho G, Tenesa A, Smith L, et al. The contribution of OCTN1/2 variants within the IBD5 locus to disease susceptibility and severity in Crohn's disease. Gastroenterology. 2005;129:1854-64 pubmed
    Recent data suggest that polymorphisms in the organic cation transporter (OCTN) genes OCTN1 (SLC22A4) and OCTN2 (SLC22A5) represent disease-causing mutations within the IBD5 locus (chromosome 5q31)...
  3. Karlsen T, Hampe J, Wiencke K, Schrumpf E, Thorsby E, Lie B, et al. Genetic polymorphisms associated with inflammatory bowel disease do not confer risk for primary sclerosing cholangitis. Am J Gastroenterol. 2007;102:115-21 pubmed
    ..The pathogenetic link between PSC and IBD is unknown. We aimed to assess whether genetic risk factors in PSC can be identified on the basis of known IBD susceptibility genes and the shared PSC-IBD phenotype...
  4. Silverberg M, Duerr R, Brant S, Bromfield G, Datta L, Jani N, et al. Refined genomic localization and ethnic differences observed for the IBD5 association with Crohn's disease. Eur J Hum Genet. 2007;15:328-35 pubmed
    ..A recent report proposed polymorphisms in solute carrier family 22, member 4 (SLC22A4) organic cation transporter 1(OCTN1) and solute carrier family 22, member 5 (SLC22A5) (OCTN2) as responsible for ..
  5. Glas J, Seiderer J, Wetzke M, Konrad A, Török H, Schmechel S, et al. rs1004819 is the main disease-associated IL23R variant in German Crohn's disease patients: combined analysis of IL23R, CARD15, and OCTN1/2 variants. PLoS ONE. 2007;2:e819 pubmed
    ..Genotyping included the NOD2 variants p.Arg702Trp, p.Gly908Arg, and p.Leu1007fsX1008 and polymorphisms in SLC22A4/OCTN1 (1672 C-->T) and SLC22A5/OCTN2 (-207 G-->C)...
  6. Okada Y, Mori M, Yamada R, Suzuki A, Kobayashi K, Kubo M, et al. SLC22A4 polymorphism and rheumatoid arthritis susceptibility: a replication study in a Japanese population and a metaanalysis. J Rheumatol. 2008;35:1723-8 pubmed
    The SLC22A4 polymorphisms slc2F1 (rs2073838) and slc2F2 (rs3792876) are reported to be associated with rheumatoid arthritis (RA) in Japanese, but the associations have not been replicated...
  7. Nilsson R, Schultz I, Pierce E, Soltis K, Naranuntarat A, Ward D, et al. Discovery of genes essential for heme biosynthesis through large-scale gene expression analysis. Cell Metab. 2009;10:119-30 pubmed publisher
    ..We identified SLC25A39, SLC22A4, and TMEM14C, which are putative mitochondrial transporters, as well as C1orf69 and ISCA1, which are iron-sulfur ..
  8. Peltekova V, Wintle R, Rubin L, Amos C, Huang Q, Gu X, et al. Functional variants of OCTN cation transporter genes are associated with Crohn disease. Nat Genet. 2004;36:471-5 pubmed
    ..We report here that two variants in the organic cation transporter cluster at 5q31 (a missense substitution in SLC22A4 and a G-->C transversion in the SLC22A5 promoter) form a haplotype associated with susceptibility to Crohn ..
  9. Barton A, Eyre S, Bowes J, Ho P, John S, Worthington J. Investigation of the SLC22A4 gene (associated with rheumatoid arthritis in a Japanese population) in a United Kingdom population of rheumatoid arthritis patients. Arthritis Rheum. 2005;52:752-8 pubmed
    ..a functional single-nucleotide polymorphism (SNP) mapping to intron 1 of the organic cation transporter 1 (OCTN1; SLC22A4) gene was associated with RA in a Japanese population, and a haplotype of a different SNP in the same gene and ..
  10. Angelini S, Soverini S, Ravegnini G, Barnett M, Turrini E, Thornquist M, et al. Association between imatinib transporters and metabolizing enzymes genotype and response in newly diagnosed chronic myeloid leukemia patients receiving imatinib therapy. Haematologica. 2013;98:193-200 pubmed publisher
    ..The analysis included polymorphisms in the transporters hOCT1, MDR1, ABCG2, OCTN1, and OATP1A2, and in the metabolizing genes CYP3A4 and CYP3A5...
  11. Kato Y, Sai Y, Yoshida K, Watanabe C, Hirata T, Tsuji A. PDZK1 directly regulates the function of organic cation/carnitine transporter OCTN2. Mol Pharmacol. 2005;67:734-43 pubmed
    ..using recombinant C-terminal proteins of OCTs and OCTNs identified a specific interaction of apical transporters OCTN1 and OCTN2, but not basolateral transporters OCT1 and OCT2, with PDZK1, intestinal and kidney-enriched PDZ protein, ..
  12. Jia W, Du F, Liu X, Jiang R, Xu F, Yang J, et al. Renal tubular secretion of tanshinol: molecular mechanisms, impact on its systemic exposure, and propensity for dose-related nephrotoxicity and for renal herb-drug interactions. Drug Metab Dispos. 2015;43:669-78 pubmed publisher
    ..polypeptide 4C1 [OATP4C1], organic cation transporter 2 [OCT2], carnitine/organic cation transporter 1 [OCTN1], multidrug and toxin extrusion protein 1 [MATE1], MATE2-K, multidrug resistance-associated protein 2 [MRP2], MRP4,..
  13. Bacher P, Giersiefer S, Bach M, Fork C, Schömig E, Gründemann D. Substrate discrimination by ergothioneine transporter SLC22A4 and carnitine transporter SLC22A5: gain-of-function by interchange of selected amino acids. Biochim Biophys Acta. 2009;1788:2594-602 pubmed publisher
    ETT (originally designated as OCTN1; human gene symbol SLC22A4) and CTT (OCTN2; SLC22A5) are highly specific transporters of ergothioneine and carnitine, respectively...
  14. Wang M, Okazaki T, Kugathasan S, Cho J, Isaacs K, Lewis J, et al. Contribution of higher risk genes and European admixture to Crohn's disease in African Americans. Inflamm Bowel Dis. 2012;18:2277-87 pubmed publisher
    ..93% CD, 2.15% Controls, P = 0.007), ATG16L1 Thr300Ala (36.1% CD, 29.3% Controls, P = 0.003), SLC22A4 and SLC22A5 (IBD5 locus) functional SNPs (Leu503Phe [10.5% CD, 7.6% Controls, P = 0.05] and g-207c [41.3% CD, 35...
  15. Isaka Y. Adaptor protein is a new therapeutic target in chronic kidney disease. Kidney Int. 2017;92:1312-1314 pubmed publisher
    ..by the postsynaptic density 95/disk-large/ZO-1 domain-containing protein (PDZK1)-organic cation transporter 1 (OCTN1)-ergothinoneine axis...
  16. Parvez M, Kaisar N, Shin H, Lee Y, Shin J. Comprehensive Substrate Characterization of 22 Antituberculosis Drugs for Multiple Solute Carrier (SLC) Uptake Transporters In Vitro. Antimicrob Agents Chemother. 2018;62: pubmed publisher
    ..1 ± 15.6, 212.0 ± 20.1, 336.8 ± 20.1, and 455.0 ± 28 μM for organic cation transporter 1 (OCT1), OCT2, OCTN1, and OCTN2, respectively. Similarly, the Km of prothionamide was 805.8 ± 23...
  17. Arakawa H, Kubo H, Washio I, Staub A, Nedachi S, Ishiguro N, et al. Rat Kidney Slices for Evaluation of Apical Membrane Transporters in Proximal Tubular Cells. J Pharm Sci. 2019;: pubmed publisher
    ..Recently, we reported that several important apical reabsorptive transporters such as Octn1/2, Sglt1/2, and Pept1/2 were functional in mouse kidney slices as well as transporter activities in basolateral ..
  18. Nakamura T, Nakanishi T, Haruta T, Shirasaka Y, Keogh J, Tamai I. Transport of ipratropium, an anti-chronic obstructive pulmonary disease drug, is mediated by organic cation/carnitine transporters in human bronchial epithelial cells: implications for carrier-mediated pulmonary absorption. Mol Pharm. 2010;7:187-95 pubmed publisher
    ..An RT-PCR study showed that organic cation/carnitine transporters OCTN1 and OCTN2 are expressed in BEAS-2B cells, but organic cation transporters (OCTs) are not...
  19. Burckhardt G, Wolff N. Structure of renal organic anion and cation transporters. Am J Physiol Renal Physiol. 2000;278:F853-66 pubmed
    ..and functional properties of organic anion transporters (OAT1, OAT2, OAT3) and organic cation transporters (OCTN1, OCTN2, OCT1, OCT2, OCT3), some of which are involved in renal proximal tubular organic anion and cation secretion...
  20. Tamai I, Nakanishi T, Kobayashi D, China K, Kosugi Y, Nezu J, et al. Involvement of OCTN1 (SLC22A4) in pH-dependent transport of organic cations. Mol Pharm. 2004;1:57-66 pubmed
    OCTN1 (SLC22A4) transports cationic compounds such as tetraethylammonium in a pH-sensitive and sodium-independent manner in cultured cells, and is expressed in wide variety of tissues, including kidney, muscle, placenta, heart, and ..
  21. Tahara H, Yee S, Urban T, Hesselson S, Castro R, Kawamoto M, et al. Functional genetic variation in the basal promoter of the organic cation/carnitine transporters OCTN1 (SLC22A4) and OCTN2 (SLC22A5). J Pharmacol Exp Ther. 2009;329:262-71 pubmed publisher
    The organic cation/ergothioneine transporter OCTN1 (SLC22A4) and the high-affinity carnitine transporter OCTN2 (SLC22A5), play an important role in the disposition of xenobiotics and endogenous compounds...
  22. Shinozaki Y, Furuichi K, Toyama T, Kitajima S, Hara A, Iwata Y, et al. Impairment of the carnitine/organic cation transporter 1-ergothioneine axis is mediated by intestinal transporter dysfunction in chronic kidney disease. Kidney Int. 2017;92:1356-1369 pubmed publisher
    Carnitine/organic cation transporter 1 (OCTN1) is a specific transporter of the food-derived antioxidant ergothioneine...
  23. Li L, Weng Y, Wang W, Bai M, Lei H, Zhou H, et al. Multiple organic cation transporters contribute to the renal transport of sulpiride. Biopharm Drug Dispos. 2017;38:526-534 pubmed publisher
    ..The results implied that OCTN1, OCTN2, OCT2, MATE1 and MATE2-K probably contributed to the renal transfer of sulpiride, in which OCT2 mediated ..
  24. Harrach S, Barz V, Pap T, Pavenstadt H, Schlatter E, Edemir B, et al. Notch Signaling Activity Determines Uptake and Biological Effect of Imatinib in Systemic Sclerosis Dermal Fibroblasts. J Invest Dermatol. 2019;139:439-447 pubmed publisher
    ..We showed that organic cation transporters OCT1-3, novel organic cation transporters OCTN1/2, and the multidrug and toxin extrusion protein MATE1 are expressed in healthy dermal and SSc fibroblasts...
  25. Fujita S, Hirota T, Sakiyama R, Baba M, Ieiri I. Identification of drug transporters contributing to oxaliplatin-induced peripheral neuropathy. J Neurochem. 2019;148:373-385 pubmed publisher
    ..b>Octn1/2- and Mate1-expressing cells showed the intracellular accumulation of oxaliplatin...
  26. McCann M, Johnston S, Reilly K, Men X, Burgess E, Perry N, et al. The effect of turmeric (Curcuma longa) extract on the functionality of the solute carrier protein 22 A4 (SLC22A4) and interleukin-10 (IL-10) variants associated with inflammatory bowel disease. Nutrients. 2014;6:4178-90 pubmed publisher
    ..of turmeric extract and fractions to affect the functionality of two gene variants, solute carrier protein 22 A4 (SLC22A4, rs1050152) and interleukin-10 (IL-10, rs1800896) associated with IBD...
  27. Sakamoto A, Matsumaru T, Yamamura N, Suzuki S, Uchida Y, Tachikawa M, et al. Drug Transporter Protein Quantification of Immortalized Human Lung Cell Lines Derived from Tracheobronchial Epithelial Cells (Calu-3 and BEAS2-B), Bronchiolar-Alveolar Cells (NCI-H292 and NCI-H441), and Alveolar Type II-like Cells (A549) by Liquid Ch. J Pharm Sci. 2015;104:3029-38 pubmed publisher
    ..with primary lung cells from all regions in terms of protein expression of organic cation/carnitine transporter 1 (OCTN1)...
  28. Newman B, Gu X, Wintle R, Cescon D, Yazdanpanah M, Liu X, et al. A risk haplotype in the Solute Carrier Family 22A4/22A5 gene cluster influences phenotypic expression of Crohn's disease. Gastroenterology. 2005;128:260-9 pubmed
    Previously, we identified 2 functionally relevant polymorphisms in the SLC22A4 / 22A5 genes at the IBD5 locus that alter gene/protein function and comprise a 2-allele haplotype ( SLC22A -TC) associated with increased risk for Crohn's ..
  29. Russell R, Drummond H, Nimmo E, Anderson N, Noble C, Wilson D, et al. Analysis of the influence of OCTN1/2 variants within the IBD5 locus on disease susceptibility and growth indices in early onset inflammatory bowel disease. Gut. 2006;55:1114-23 pubmed
    The OCTN1 (SLC22A4 1672C-->T) and OCTN2 (SLC22A5 -207G-->C) variants within the IBD5 locus have been associated with susceptibility to adult onset Crohn's disease (CD), but their contribution in children has not been examined...
  30. Li Y, Chang M, Schrodi S, Callis Duffin K, Matsunami N, Civello D, et al. The 5q31 variants associated with psoriasis and Crohn's disease are distinct. Hum Mol Genet. 2008;17:2978-85 pubmed publisher
    ..77 [0.67-0.88]), could account for observed significant association of all but one other SNP, rs11568506 in SLC22A4 [Mantel-Haenszel P(combined) = 0.043, OR = 0.68 (0.47-0.99)]...
  31. Pochini L, Scalise M, Galluccio M, Pani G, Siminovitch K, Indiveri C. The human OCTN1 (SLC22A4) reconstituted in liposomes catalyzes acetylcholine transport which is defective in the mutant L503F associated to the Crohn's disease. Biochim Biophys Acta. 2012;1818:559-65 pubmed publisher
    The organic cation transporter (OCTN1) plays key roles in transport of selected organic cations, but understanding of its biological functions remains limited by restricted knowledge of its substrate targets...
  32. Chapy H, Smirnova M, André P, Schlatter J, Chiadmi F, Couraud P, et al. Carrier-mediated cocaine transport at the blood-brain barrier as a putative mechanism in addiction liability. Int J Neuropsychopharmacol. 2014;18: pubmed publisher
    ..characterization suggests that the solute carrier (SLC) transporters Oct (Slc22a1-3), Mate (Slc47a1) and Octn (Slc22a4-5) are not involved in the cocaine transport in vivo and in vitro...
  33. Wu Y, Hurren R, MacLean N, Gronda M, Jitkova Y, Sukhai M, et al. Carnitine transporter CT2 (SLC22A16) is over-expressed in acute myeloid leukemia (AML) and target knockdown reduces growth and viability of AML cells. Apoptosis. 2015;20:1099-108 pubmed publisher
    ..We examined the expression of the known plasma membrane carnitine transporters, OCTN1, OCTN2, and CT2 in AML cell lines and primary AML samples and compared expression to normal hematopoietic cells...
  34. Yahouedehou S, Adorno E, da Guarda C, Ndidi U, Carvalho S, Santiago R, et al. Hydroxyurea in the management of sickle cell disease: pharmacogenomics and enzymatic metabolism. Pharmacogenomics J. 2018;18:730-739 pubmed publisher
    ..ASS1, KLF10, HAO2, MAP3K5, PDE7B, TOX, NOS1, NOS2A, FLT1, ARG1, ARG2, UGT1A1, OR51B5/6, SIN3A, SALL2, SAR1A, UTB, OCTN1, CYP2C9, AQP9, MPO, CYP2E1, and GSTT1) have also been considered...
  35. Repnik K, Potocnik U. Haplotype in the IBD5 region is associated with refractory Crohn's disease in Slovenian patients and modulates expression of the SLC22A5 gene. J Gastroenterol. 2011;46:1081-91 pubmed publisher
    ..We found statistically significant association of polymorphisms rs1050152 in gene SLC22A4 (p = 0.005, OR = 2.177, 95% CI = 1.270-3.526) and rs2631372 in gene SLC22A5 (p = 0.001, OR = 0...
  36. Pochini L, Scalise M, Di Silvestre S, Belviso S, Pandolfi A, Arduini A, et al. Acetylcholine and acetylcarnitine transport in peritoneum: Role of the SLC22A4 (OCTN1) transporter. Biochim Biophys Acta. 2016;1858:653-60 pubmed publisher
    A suitable experimental tool based on proteoliposomes for assaying Organic Cation Transporter Novel member 1 (OCTN1) of peritoneum was pointed out...
  37. Ben Saïd M, Grati M, Ishimoto T, Zou B, Chakchouk I, Ma Q, et al. A mutation in SLC22A4 encoding an organic cation transporter expressed in the cochlea strial endothelium causes human recessive non-syndromic hearing loss DFNB60. Hum Genet. 2016;135:513-524 pubmed publisher
    ..Cys113Tyr in SLC22A4, a transporter of organic cations, cosegregating with HL in FT13 and therefore the cause of ARNSHL DFNB60...
  38. Huff C, Witherspoon D, Zhang Y, Gatenbee C, Denson L, Kugathasan S, et al. Crohn's disease and genetic hitchhiking at IBD5. Mol Biol Evol. 2012;29:101-11 pubmed publisher
    ..The OCTN1 gene is centrally located on IBD5 and encodes a transporter of the antioxidant ergothioneine (ET)...
  39. Higuchi K, Kitamura A, Okura T, Deguchi Y. Memantine transport by a proton-coupled organic cation antiporter in hCMEC/D3 cells, an in vitro human blood-brain barrier model. Drug Metab Pharmacokinet. 2015;30:182-7 pubmed publisher
    ..substrate of OCTN2), but was not inhibited by MPP(+) (substrate of OCTs and PMAT) or ergothioneine (substrate of OCTN1)...
  40. Hseu Y, Lo H, Korivi M, Tsai Y, Tang M, Yang H. Dermato-protective properties of ergothioneine through induction of Nrf2/ARE-mediated antioxidant genes in UVA-irradiated Human keratinocytes. Free Radic Biol Med. 2015;86:102-17 pubmed publisher
    ..Silencing of Nrf2 or OCTN1 (EGT carrier protein) signaling with siRNA showed no such protective effects of EGT against UVA-induced cell death,..
  41. Prieto Pérez R, Llamas Velasco M, Cabaleiro T, Solano López G, Márquez B, Román M, et al. Pharmacogenetics of ustekinumab in patients with moderate-to-severe plaque psoriasis. Pharmacogenomics. 2017;18:157-164 pubmed publisher
    ..Furthermore, six SNPs in CHUK, C17orf51, ZNF816A, STAT4, SLC22A4 and Corf72 genes were associated with better response to ustekinumab...
  42. Dolberg A, Reichl S. Expression analysis of human solute carrier (SLC) family transporters in nasal mucosa and RPMI 2650 cells. Eur J Pharm Sci. 2018;123:277-294 pubmed publisher
    ..The expression profiles of PEPT2, OATP1A2, OATP4C1, OCT2, OCTN1 and OCTN2 were investigated at the gene and protein levels by performing RT-PCR, western blot analysis and ..
  43. Kawasaki Y, Kato Y, Sai Y, Tsuji A. Functional characterization of human organic cation transporter OCTN1 single nucleotide polymorphisms in the Japanese population. J Pharm Sci. 2004;93:2920-6 pubmed
    The organic cation transporter OCTN1 (SLC22A4) is expressed ubiquitously, with strong expression in kidney, trachea, bone marrow, and fetal liver, and it mediates transport of organic cations in a pH-dependent manner...
  44. Suchy J, Kłujszo Grabowska E, Kładny J, Cybulski C, Wokołorczyk D, Szymanska Pasternak J, et al. Inflammatory response gene polymorphisms and their relationship with colorectal cancer risk. BMC Cancer. 2008;8:112 pubmed publisher
    ..In order to test this hypothesis we investigated a series of polymorphisms in 6 genes (NOD2, DLG5, OCTN1, OCTN2, IL4, TNFalpha) associated with the inflammatory response on a group of 607 consecutive newly diagnosed ..
  45. Ding Y, Cong L, Ionita Laza I, Lo S, Zheng T. Constructing gene association networks for rheumatoid arthritis using the backward genotype-trait association (BGTA) algorithm. BMC Proc. 2007;1 Suppl 1:S13 pubmed
    ..Based on significant association evidence, we built an association network among the loci of PTPN22, PADI4, DLG5, SLC22A4, SUMO4, and CARD15...
  46. Ishimoto T, Nakamichi N, Nishijima H, Masuo Y, Kato Y. Carnitine/Organic Cation Transporter OCTN1 Negatively Regulates Activation in Murine Cultured Microglial Cells. Neurochem Res. 2018;43:116-128 pubmed publisher
    ..aim of the present study was to clarify the functional expression of carnitine/organic cation transporter OCTN1/SLC22A4, which recognizes the naturally occurring food-derived antioxidant ergothioneine (ERGO) as a substrate in vivo, ..
  47. Danik J, Pare G, Chasman D, Zee R, Kwiatkowski D, Parker A, et al. Novel loci, including those related to Crohn disease, psoriasis, and inflammation, identified in a genome-wide association study of fibrinogen in 17 686 women: the Women's Genome Health Study. Circ Cardiovasc Genet. 2009;2:134-41 pubmed publisher
    ..Two of the loci are related to common chronic inflammatory diseases: the first, at locus 5q31.1 (SLC22A5, SLC22A4, IRF1), lies immediately adjacent to a locus linked to Crohn disease (P value for lead SNP, 1...
  48. Wada E, Koyanagi S, Kusunose N, Akamine T, Masui H, Hashimoto H, et al. Modulation of peroxisome proliferator-activated receptor-α activity by bile acids causes circadian changes in the intestinal expression of Octn1/Slc22a4 in mice. Mol Pharmacol. 2015;87:314-22 pubmed publisher
    ..In the present study, we identified soluble carrier protein family 22 member 4 (Slc22a4), encoding organic cation transporter novel type-1 (Octn1), as a PPARα-regulated gene and its intestinal ..
  49. Yamase Y, Horibe H, Ueyama C, Fujimaki T, Oguri M, Kato K, et al. Association of TOMM40 and SLC22A4 polymorphisms with ischemic stroke. Biomed Rep. 2015;3:491-498 pubmed
    ..0102) and rs273909 (T→C) of the solute carrier family 22, member 4 gene (SLC22A4, P=0.0097) were significantly (P<0.05) associated with the prevalence of ischemic stroke...
  50. Tschirka J, Kreisor M, Betz J, Gründemann D. Substrate Selectivity Check of the Ergothioneine Transporter. Drug Metab Dispos. 2018;46:779-785 pubmed publisher
    The candidate vitamin ergothioneine (ET) is a unique antioxidant. Expression of the ET transporter (ETT) (gene symbol SLC22A4) in distinct cells is thought to signal intracellular ET activity, since we have previously shown that ..
  51. Martini M, Ferrara A, Giachelia M, Panieri E, Siminovitch K, Galeotti T, et al. Association of the OCTN1/1672T variant with increased risk for colorectal cancer in young individuals and ulcerative colitis patients. Inflamm Bowel Dis. 2012;18:439-48 pubmed publisher
    ..We evaluated whether single nucleotide polymorphisms of the OCTN1 and OCTN2 genes are associated with UC, SCC, and with UC cases with cancer progression (UCCP)...
  52. Li H, Jin Z, Li X, Wu L, Jin J. Associations between single-nucleotide polymorphisms and inflammatory bowel disease-associated colorectal cancers in inflammatory bowel disease patients: a meta-analysis. Clin Transl Oncol. 2017;19:1018-1027 pubmed publisher
    ..97; 95% CI 1.74-5.05, P < 0.001) and rs1050152 of OCTN1 (allelic model: OR 1.637, 95% CI 1.078-2.485, P = 0...
  53. Servillo L, DʼOnofrio N, Balestrieri M. Ergothioneine Antioxidant Function: From Chemistry to Cardiovascular Therapeutic Potential. J Cardiovasc Pharmacol. 2017;69:183-191 pubmed publisher
    ..up to millimolar concentration through its high affinity transporter, namely the organic cation transporter 1 (OCTN1)...
  54. Cheah I, Feng L, Tang R, Lim K, Halliwell B. Ergothioneine levels in an elderly population decrease with age and incidence of cognitive decline; a risk factor for neurodegeneration?. Biochem Biophys Res Commun. 2016;478:162-167 pubmed publisher
    ..Following absorption via a specific transporter, OCTN1, ET may accumulate preferentially in tissues predisposed to higher levels of oxidative stress and inflammation...
  55. Lamhonwah A, Ackerley C, Onizuka R, Tilups A, Lamhonwah D, Chung C, et al. Epitope shared by functional variant of organic cation/carnitine transporter, OCTN1, Campylobacter jejuni and Mycobacterium paratuberculosis may underlie susceptibility to Crohn's disease at 5q31. Biochem Biophys Res Commun. 2005;337:1165-75 pubmed
    ..The organic cation/carnitine transporters, OCTN1 and OCTN2, function primarily in the transport of l-carnitine and elimination of cationic drugs in the intestine...
  56. Meyer Wentrup F, Karbach U, Gorboulev V, Arndt P, Koepsell H. Membrane localization of the electrogenic cation transporter rOCT1 in rat liver. Biochem Biophys Res Commun. 1998;248:673-8 pubmed
    ..Translational regulation is suggested since the message of rOCT1 was distributed throughout the liver lobuli, whereas rOCT1 protein was observed only in hepatocytes surrounding the central veins. ..
  57. Chen Y, Chen C, Yan W, Ge H, Kong L. Anti-hyperuricemic and anti-inflammatory actions of vaticaffinol isolated from Dipterocarpus alatus in hyperuricemic mice. Chin J Nat Med. 2017;15:330-340 pubmed publisher
    ..anion transporter 1 (OAT1), organic cation transporter 1 (OCT1), OCT2, organic cation/carnitine transporter 1 (OCTN1), and OCTN2 in hyperuricemic mice...
  58. Hradsky O, Dusatkova P, Lenicek M, Bronsky J, Duricova D, Nevoral J, et al. Two independent genetic factors responsible for the associations of the IBD5 locus with Crohn's disease in the Czech population. Inflamm Bowel Dis. 2011;17:1523-9 pubmed publisher
    ..In the Czech population we examined its genetic association using variants of the SLC22A4 (rs1050152), SLC22A5 (rs2631367), two single nucleotide polymorphisms (SNPs) shown to be associated with CD in ..
  59. Wang M, Liu Y, Yang Y, Zhang D, Kong L. Nuciferine restores potassium oxonate-induced hyperuricemia and kidney inflammation in mice. Eur J Pharmacol. 2015;747:59-70 pubmed publisher
    ..anion transporter 1 (OAT1), organic cation transporter 1 (OCT1), and organic cation/carnitine transporters 1/2 (OCTN1/2) in hyperuricemic mice...
  60. Forton J, Rowlands K, Rockett K, Hanchard N, Herbert M, Kwiatkowski D, et al. Genetic association study for RSV bronchiolitis in infancy at the 5q31 cytokine cluster. Thorax. 2009;64:345-52 pubmed publisher
    ..This study, together with previous studies implicating the same locus in atopic sensitisation, suggests that primary RSV bronchiolitis and atopy share a genetic contribution at the IL13-IL4 locus. ..
  61. Xuan C, Zhang B, Yang T, Deng K, Li M, Tian R. Association between OCTN1/2 gene polymorphisms (1672C-T, 207G-C) and susceptibility of Crohn's disease: a meta-analysis. Int J Colorectal Dis. 2012;27:11-9 pubmed publisher
    Although a number of genetic studies have attempted to link organic cation transporter 1/2 (OCTN1/2) polymorphisms to susceptibility of Crohn's disease (CD), the results were often inconsistent...
  62. Myers R, Scott N, Gauderman W, Qiu W, Mathias R, Romieu I, et al. Genome-wide interaction studies reveal sex-specific asthma risk alleles. Hum Mol Genet. 2014;23:5251-9 pubmed publisher
  63. Walker A, Ofori Acquah S. Sustained enhancement of OCTN1 transporter expression in association with hydroxyurea induced ?-globin expression in erythroid progenitors. Exp Hematol. 2017;45:69-73.e2 pubmed publisher
    ..investigated the role of two HU transporters, urea transporter B (UTB) and organic cation/carnitine transporter 1 (OCTN1), in this process. Endogenous expression of both transporters peaked toward the end of erythroid differentiation...
  64. Kerley R, McCarthy C, Kell D, Kenny L. The potential therapeutic effects of ergothioneine in pre-eclampsia. Free Radic Biol Med. 2018;117:145-157 pubmed publisher
    ..ERG accumulates within tissues through the action of a specific organic cation transporter, SLC22A4 (previously referred to as OCTN1), which is possibly also expressed in mammalian mitochondria...
  65. Eraly S, Hamilton B, Nigam S. Organic anion and cation transporters occur in pairs of similar and similarly expressed genes. Biochem Biophys Res Commun. 2003;300:333-42 pubmed
    ..the human and mouse genomes as tightly linked pairs (OAT1 and OAT3, UST3 and OAT5, OAT4 and URAT1/RST, OCT1 and 2, OCTN1 and 2, ORCTL3 and 4) that are also close phylogenetic relations, with Flipt1 and 2, and OAT2 the only unpaired ..
  66. de Ridder L, Weersma R, Dijkstra G, van der Steege G, Benninga M, Nolte I, et al. Genetic susceptibility has a more important role in pediatric-onset Crohn's disease than in adult-onset Crohn's disease. Inflamm Bowel Dis. 2007;13:1083-92 pubmed
    ..and Thr399Ile of TLR4; -207G-->C, 1672C-->T (L503F), rs3792876, rs274551, rs272893, and rs273900 of SLC22A4/5; and 113G-->A as well as rs2289311, rs1270912, and rs2165047 of DLG5 (Drosophila discs large homologue 5) ..
  67. Xuan W, Lamhonwah A, Librach C, Jarvi K, Tein I. Characterization of organic cation/carnitine transporter family in human sperm. Biochem Biophys Res Commun. 2003;306:121-8 pubmed
    ..We demonstrate that the organic cation/carnitine transporters, OCTN1, OCTN2, and OCTN3, are expressed in sperm as three distinct proteins with an expected molecular mass of 63 kDa, ..
  68. Futatsugi A, Masuo Y, Kawabata S, Nakamichi N, Kato Y. L503F variant of carnitine/organic cation transporter 1 efficiently transports metformin and other biguanides. J Pharm Pharmacol. 2016;68:1160-9 pubmed publisher
    Carnitine/organic cation transporter 1 (OCTN1) is involved in gastrointestinal absorption and mitochondrial toxicity of biguanides in rodents, but its pharmacokinetic roles in humans are largely unknown...
  69. Hubeny A, Keiser M, Oswald S, Jedlitschky G, Kroemer H, Siegmund W, et al. Expression of Organic Anion Transporting Polypeptide 1A2 in Red Blood Cells and Its Potential Impact on Antimalarial Therapy. Drug Metab Dispos. 2016;44:1562-8 pubmed publisher
    ..Additional transport studies using OCT1-3 and organic cation transporter novel type 1 (OCTN1) indicated only significant quinine uptake by OCT1, which was not detected in RBCs...
  70. Yamamoto Furusho J, Mendivil E, Mendivil Rangel E, Villeda Ramírez M, Fonseca Camarillo G, Barreto Zúñiga R. Gene expression of carnitine organic cation transporters 1 and 2 (OCTN) is downregulated in patients with ulcerative colitis. Inflamm Bowel Dis. 2011;17:2205-6 pubmed publisher
  71. Beckmann J, Schubert J, Morhenn H, Grau V, Schnettler R, Lips K. Expression of choline and acetylcholine transporters in synovial tissue and cartilage of patients with rheumatoid arthritis and osteoarthritis. Cell Tissue Res. 2015;359:465-477 pubmed publisher
    ..OCT1, OCT3 and OCTN1 and all members of the CTL family were expressed in synovial and cartilage samples...
  72. Guo J, Wang L, Xu H, Che X. Expression of non-neuronal cholinergic system in maxilla of rat in vivo. Biol Res. 2014;47:72 pubmed publisher
    ..translocase member 20 (Slc25a20), VAChT, OCTN2, OCT1, OCT3, organic cation transporter member 4 (Slc22a4), AChE, BChE, nAChR subunits α1, α2, α3, α5, α7, α10, β1, β2, β4, γ and mAChR ..
  73. Gisler S, Pribanic S, Bacic D, Forrer P, Gantenbein A, Sabourin L, et al. PDZK1: I. a major scaffolder in brush borders of proximal tubular cells. Kidney Int. 2003;64:1733-45 pubmed
    ..also identified: NaPi-IIa, solute carrier SLC17A1 (NaPi-I), Na+/H+ exchanger (NHE-3), organic cation transporter (OCTN1), chloride-formate exchanger (CFEX), and urate-anion exchanger (URAT1)...
  74. Karban A, Itay M, Davidovich O, Leshinsky Silver E, Kimmel G, Fidder H, et al. Risk factors for perianal Crohn's disease: the role of genotype, phenotype, and ethnicity. Am J Gastroenterol. 2007;102:1702-8 pubmed
    ..The patients were genotyped for disease-associated OCTN1/2 and NOD2/CARD15 variants and the TNF-alpha promoter polymorphisms...
  75. Markova N, Karaman Jurukovska N, Dong K, Damaghi N, Smiles K, Yarosh D. Skin cells and tissue are capable of using L-ergothioneine as an integral component of their antioxidant defense system. Free Radic Biol Med. 2009;46:1168-76 pubmed publisher
    ..its protective function is restricted to cells that express the L-ergothioneine-specific receptor/transporter OCTN1. Here we report for the first time that both as resident skin cells and in culture, epidermal keratinocytes ..
  76. Shimizu T, Kijima A, Masuo Y, Ishimoto T, Sugiura T, Takahashi S, et al. Gene ablation of carnitine/organic cation transporter 1 reduces gastrointestinal absorption of 5-aminosalicylate in mice. Biol Pharm Bull. 2015;38:774-80 pubmed publisher
    ..that the absorption of 5-ASA is mediated by the polyspecific carnitine/organic cation transporter (OCTN1/SLC22A4), based on the similarity of chemical structure between 5-ASA and other OCTN1 substrates...
  77. Zhu C, Nigam K, Date R, Bush K, Springer S, Saier M, et al. Evolutionary Analysis and Classification of OATs, OCTs, OCTNs, and Other SLC22 Transporters: Structure-Function Implications and Analysis of Sequence Motifs. PLoS ONE. 2015;10:e0140569 pubmed publisher
    ..single nucleotide polymorphisms (SNPs) and other functionally analyzed mutations in OAT1, OAT3, URAT1, OCT1, OCT2, OCTN1, and OCTN2 map to the first extracellular domain, the large central intracellular domain, and transmembrane ..
  78. Bexten M, Oswald S, Grube M, Jia J, Graf T, Zimmermann U, et al. Expression of drug transporters and drug metabolizing enzymes in the bladder urothelium in man and affinity of the bladder spasmolytic trospium chloride to transporters likely involved in its pharmacokinetics. Mol Pharm. 2015;12:171-8 pubmed publisher
    ..P-gp), ABCC1-5 (MRP1-5), ABCG2 (BCRP), SLCO2B1 (OATP2B1), SLCO4A1 (OATP4A1), SLC22A1 (OCT1), SLC22A3 (OCT3), SLC22A4 (OCTN1), SLC22A5 (OCTN2), and SLC47A1 (MATE1)...
  79. Latiano A, Palmieri O, Valvano M, D Incà R, Cucchiara S, Riegler G, et al. Replication of interleukin 23 receptor and autophagy-related 16-like 1 association in adult- and pediatric-onset inflammatory bowel disease in Italy. World J Gastroenterol. 2008;14:4643-51 pubmed
    ..rs11209026 and rs7517847 [interleukin 23 receptor (IL23R)], rs2066844, rs2066845, rs2066847 (CARD15), rs1050152 (OCTN1), and rs2631367 (OCTN2) gene variants were genotyped...
  80. Berg T, Hegelund Myrback T, Ockinger J, Zhou X, Brännström M, Hagemann Jensen M, et al. Expression of MATE1, P-gp, OCTN1 and OCTN2, in epithelial and immune cells in the lung of COPD and healthy individuals. Respir Res. 2018;19:68 pubmed publisher
    ..To further evaluate their potential to impact on inhaled drug disposition, the localization of MATE1, P-gp, OCTN1 and OCTN2 were investigated in human lung...
  81. Nishida K, Takeuchi K, Hosoda A, Sugano S, Morisaki E, Ohishi A, et al. Ergothioneine ameliorates oxaliplatin-induced peripheral neuropathy in rats. Life Sci. 2018;207:516-524 pubmed publisher
    ..Here, we examined whether co-administration of ergothioneine, a substrate/inhibitor of OCTN1, with l-OHP could prevent this peripheral neuropathy. l-OHP (4?mg/kg, i.p...
  82. Urban T, Brown C, Castro R, Shah N, Mercer R, Huang Y, et al. Effects of genetic variation in the novel organic cation transporter, OCTN1, on the renal clearance of gabapentin. Clin Pharmacol Ther. 2008;83:416-21 pubmed
    ..In this study, we tested the hypothesis that organic cation transporter 1 (OCTN1), a multispecific transporter expressed at the apical membrane in intestine and kidney, plays a role in gabapentin ..
  83. Gaj P, Habior A, Mikula M, Ostrowski J. Lack of evidence for association of primary sclerosing cholangitis and primary biliary cirrhosis with risk alleles for Crohn's disease in Polish patients. BMC Med Genet. 2008;9:81 pubmed publisher
    ..We investigated whether polymorphisms that confer susceptibility to Crohn's disease could be classified also as predisposing factors for the development of primary sclerosing cholangitis and primary biliary cirrhosis in Polish patients...
  84. Gilchrist S, Alcorn J. Lactation stage-dependent expression of transporters in rat whole mammary gland and primary mammary epithelial organoids. Fundam Clin Pharmacol. 2010;24:205-14 pubmed publisher
    ..Mtx1); (ii) prominent increase in early lactation, which may remain elevated or decline with advancing lactation (Octn1, Cnt2, Cnt3, Ent1, Pept1, Pept2); (iii) constant but decreasing later in lactation (Octn3, Dmt1); (iv) increasing ..
  85. Pfeiffer C, Bach M, Bauer T, Campos da Ponte J, Schömig E, Gründemann D. Knockout of the ergothioneine transporter ETT in zebrafish results in increased 8-oxoguanine levels. Free Radic Biol Med. 2015;83:178-85 pubmed publisher
    ..The ergothioneine transporter ETT (human gene symbol SLC22A4) is a highly specific transporter for the uptake of ET...
  86. Yang X, Ma Z, Zhou S, Weng Y, Lei H, Zeng S, et al. Multiple Drug Transporters Are Involved in Renal Secretion of Entecavir. Antimicrob Agents Chemother. 2016;60:6260-70 pubmed publisher
    ..primary renal tubular cells was obviously affected by inhibitors of organic anion transporter 1/3 (Oat1/3), Oct2, Octn1/2, and Mrp2...
  87. Kato Y, Yoshida K, Watanabe C, Sai Y, Tsuji A. Screening of the interaction between xenobiotic transporters and PDZ proteins. Pharm Res. 2004;21:1886-94 pubmed
    ..interaction with PDZ proteins was identified for several xenobiotic transporters including PEPT1, PEPT2, OCT3, OCTN1, OCTN2, OAT4, OATP-A, OATP-D, and OATP-F...
  88. Ferraris A, Torres B, Knafelz D, Barabino A, Lionetti P, De Angelis G, et al. Relationship between CARD15, SLC22A4/5, and DLG5 polymorphisms and early-onset inflammatory bowel diseases: an Italian multicentric study. Inflamm Bowel Dis. 2006;12:355-61 pubmed
    ..in adult Crohn's disease (CD) has been defined for 3 polymorphisms in the CARD15 gene, whereas variants in the SLC22A4, SLC22A5, and DLG5 genes could have a minor contribution to IBD susceptibility...
  89. Kabakchiev B, Silverberg M. Expression quantitative trait loci analysis identifies associations between genotype and gene expression in human intestine. Gastroenterology. 2013;144:1488-96, 1496.e1-3 pubmed publisher
    ..are single nucleotide polymorphisms associated with inflammatory bowel disease: rs2298428/UBE2L3, rs1050152/SLC22A4, and SLC22A5...