Recombinant Human Solute carrier family 22 member 4 (SLC22A4), partial

1. The expression of SLC22A4, IL1R2 and VNN3, were independently associated with elevated neutrophil-to-lymphocyte ratio in chronic heart failure patients. PMID: 29901123
2. Functional expression of Octn1 was demonstrated in activated hepatic stellate cell lines. PMID: 27020986
3. Studies confirmed OCTN1-mediated transport of cytarabine and various structurally related cytidine analogues, such as 2'deoxycytidine and gemcitabine, occurs through a saturable process that is highly sensitive to inhibition by the classic nucleoside transporter inhibitors. PMID: 28209616
4. These data reveal a role of OCTN1 in transporting acetylcholine and choline in HeLa cells. PMID: 25937167
5. mutation in SLC22A4 encoding an organic cation transporter expressed in the cochlea strial endothelium causes human recessive non-syndromic hearing loss. PMID: 27023905
6. Functional activity of L-carnitine transporters in human airway epithelial cells. PMID: 26607009
7. SLC22A4 was associated with joint erosion in not-very-longstanding RA, although RA susceptibility association was weak and its clinical significance was uncertain. PMID: 25707686
8. Functional expression of OCTN1 was confirmed in LPS-stimulated human macrophage-like cell line, THP-1. PMID: 26003890
9. This meta-analysis demonstrates that the SLC22A4 F1 polymorphism is associated with susceptibility to RA in East Asians, but not in Europeans. PMID: 24972750
10. Report functional/molecular effects of mercury compounds on the human OCTN1 cation transporter: C50 and C136 are the targets for potent inhibition. PMID: 25490951
11. A lack of association between the SLC22A4 gene polymorphism rs3792876 and susceptibility to autoimmune thyroid diseases in a Chinese Han population. PMID: 26329403
12. SLC22A4 gene polymorphisms played important roles in the etiology of rheumatoid arthritis in the Chinese population. PMID: 24599653
13. Single nucleotide polymorphisms in SLC22A4 gene is associated with inborn errors of metabolism. PMID: 24850141
14. The selenoneine-mediated OCTN1 system regulates secretory lysosomal vesicle formation and MeHg demethylation. PMID: 23709046
15. Polymorphisms in OCTN1 and OCTN2 transporters genes are associated with prolonged time to progression in unresectable gastrointestinal stromal tumours treated with imatinib therapy PMID: 23127916
16. Acetylcholine transport catalyzed by OCTN1 revealed an asymmetric regulation by Na(+). PMID: 22569296
17. Only cells with strong expression of ETT can accumulate ET. In the human body, absorbtion, distribution and retain ET depends on this transporter. Blockade or inactivation of ETT in animal models may be essential to understand the function of ET [review] PMID: 22182480
18. Data indicate that the 503F variant has increased in frequency due to recent positive selection and that disease-causing variants in linkage disequilibrium with 503F have hitchhiked to relatively high frequency, thus forming the IBD5 risk haplotype. PMID: 21816865
19. OCTN1 could have a role in modulating the severity of chronic inflammation associated with sporadic colorectal cancer in early age and in ulcerative colitis patients. PMID: 21793125
20. There was a trend towards higher carnitine transport in subjects with OCTN1 and OCTN2 mutations. PMID: 22325173
21. a new transport role for OCTN1 and raise the possibility that its involvement in the non-neuronal acetylcholine system may be relevant to the pathogenesis of Crohn's disease PMID: 22206629
22. This meta-analysis suggests that OCTN1/2 polymorphisms were associated with susceptibility of Crohn's disease in the Caucasian population but not in the East Asian population. PMID: 21706137
23. Carnitine organic cation transporters 1 downregulation is associated with ulcerative colitis. PMID: 21910182
24. SNPs and haplotype in the IBD5 SLC22A4/SLC22A5 region contribute to the development of particularly refractory Crohn's disease in the Slovenian population PMID: 21695374
25. variants in SLC22A4 and SLC22A5 was dependent on rs6596075 risk haplotype in Crohn's disease. PMID: 21674708
26. OCTN1-mediated transport of oxaliplatin contributes to its neuronal accumulation and treatment-limiting neurotoxicity in neurons. PMID: 21606177
27. Results replicated the association of the OCTN1 rs1050152 (L503F) variant with Crohn's disease and inflammatory bowel disease. A weak gender-specific effect of rs1050152 (L503F) on male Ulcerative Colitis and female Crohn's Disease was observed. PMID: 21122496
28. Variants carried by the haplotypes of SLC22A4, SLC22A5 and KIF3A region potentially contribute to tuberculosis susceptibility among the Thai population. PMID: 20485362
29. These results indicate that OCTN1 plays a pivotal role for maintenance of systemic and intestinal exposure of ergothioneine providing a possible diagnostic tool to distinguish the inflammatory bowel diseases PMID: 20224991
30. There was no evidence for epistasis between the IL23R gene and the Crohn's disease susceptibility genes CARD15 and SLC22A4/5. PMID: 17786191
31. ipratropium and tiotropium are taken up primarily by OCTN2, and to a lesser extent by OCTN1, in bronchial epithelial cells PMID: 20020740
32. Substrate discrimination by ergothioneine transporter SLC22A4 and carnitine transporter SLC22A5: gain-of-function by interchange of selected amino acids. PMID: 19814996
33. Twenty four genetic variants of SLC22A4, including 14 were found to be novel, 16 in the coding exons (10 nonsynonymous and 6 synonymous variations) and 8 in the introns. PMID: 19881261
34. An intronic SNP in a RUNX1 binding site of SLC22A4, encoding an organic cation transporter, is associated with rheumatoid arthritis PMID: 14608356
35. Missense substitution in SLC22A4 is associated with Crohn disease PMID: 15107849
36. Review. SLC22A4 is a susceptibility gene for rheumatoid arthritis. A functional SNP has an allele-specific effect on expression through variable binding of RUNX1. PMID: 15184985
37. We conclude that the single nucleotide polymorphism that causes the amino acid mutation G462E abrogates transport activity, presumably affecting the physiological function of OCTN1 and/or the pharmacological characteristics of its substrates. PMID: 15459889
38. 2 functionally relevant polymorphisms in the SLC22A4 / 22A5 genes at the IBD5 locus that alter gene/protein function and are associated with increased risk for Crohn's disease. PMID: 15685536
39. key substrate of this transporter is ergothioneine PMID: 15795384
40. OCTN1 is involved in renal excretion of organic cations across the apical membrane. PMID: 15832501
41. antibody raised to an epitope during C. jejuni or M. paratuberculosis enterocolitis may crossreact with an intestinal epithelial cell functional variant of OCTN1, an already less efficient carnitine transporter, initiating inflammatory bowel disease PMID: 16246312
42. The 1672C>T SLC22A4 and -207G>C SLC22A5 polymorphisms are genetic markers of susceptibility/protection haplotypes for Crohn's disease. PMID: 16333318
43. the 1672T variant of the OCTN1 gene and the -207C variant of the OCTN2 gene represent risk factors for Crohn disease in the Greek population PMID: 16437728
44. the SLC22A4 and RUNX1 polymorphisms did not show a significant role in rheumatoid arthritis susceptibility in a Spanish PMID: 16652416
45. Results showed endogenous expression of native OCTN1 in HepG2 cell mitochondria. PMID: 16729965
46. A recent report identified polymorphisms in SLC22A4 (OCTN1) and SLC22A5 (OCTN2) as being responsible for the IBD5 association inflammatory bowel disease). PMID: 16773684
47. One of the tested polymorphisms in the SLC22A4 gene at 1672 showed significant association with type 1 diabetes. PMID: 16796743
48. The frequency of the NOD2/CARD15 susceptibility variants in the Hungarian pediatric CD population is high. SLC22A4 and SLC22A5 mutation screening do not confirm the assumption that the carriage of these genotypes means an obligatory susceptibility to CD. PMID: 17006998
49. The IBD5 locus is associated with CD in the Swedish population. The strongest association is with the marker SNP IGR2096a_1, lying p-telomeric to SLC22A4 and SLC22A5. The effect of the TC haplotype was not an independent determinant in this population. PMID: 17340776
50. The SLC22A4 1672T allele frequency was 46.7% in the patients with UC and 46.4% in the controls PMID: 17387389

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HGNC: 10968

OMIM: 180300

KEGG: hsa:6583

STRING: 9606.ENSP00000200652

UniGene: Hs.310591