Recombinant Human H (+)/Cl (-) exchange transporter 5 (CLCN5), partial

1. We demonstrated that most Polish patients with DD carry CLCN5 mutations, and they usually present with proteinuria and hypercalciuria. PMID: 28815356
2. Novel CLCN5 (c.1205G>A, p.W402*) and FGF23 (c.526C>G, p.R176G) mutations were found in two patients from the remaining two families PMID: 28383812
3. Expression of ClC-5 carrying Dent's disease-associated mutations in HEK293 cells had varying effects: (1) no detectable expression of mutant protein; (2) retention of a truncated protein in the endoplasmic reticulum; or (3) diminished protein expression with normal distribution in early endosomes. PMID: 29058463
4. These data suggest that ClC-5 enhances the cytotoxic action of Clostridium difficile toxins TcdA and TcdB by accelerating the acidification and maturation of vesicles of the early and early-to-late endosomal system. PMID: 28348980
5. A diagnosis of Dent disease was established in 19 boys from 16 families by the presence of loss of function/deleterious mutations in CLCN5 or OCRL1. PMID: 27174143
6. we carefully investigated the functional effects of four CLC-5 mutations, including three missense mutations (S244L, R345W, T657S) and one nonsense mutation (Q629X) PMID: 27117801
7. Previously reported mutations and their associated phenotype in 377 male patients with Dent disease are reviewed and described phenotype and novel and recurrent mutations in a large cohort of 117 Dent disease patients belonging to 90 families. PMID: 25907713
8. A novel mutation in the CLCN5 gene was identified in our patient with Dent's disease. PMID: 25124980
9. structural complexity of the CLCN5 5'UTR region PMID: 25001568
10. ATP induces conformational changes in the carboxyl-terminal region of ClC-5. PMID: 21173145
11. study described a single Chinese family with Dent disease, and findings suggest that a novel frameshift mutation (c. 246delG) in exon 5 of the CLCN5 gene was responsible for Dent disease in this case PMID: 24428215
12. Dent disease is caused by mutations in at least two genes, i.e. CLCN5 and OCRL1, and its genetic background and phenotypes are common among European countries and the USA. PMID: 24081861
13. Case Report: computer simulation analysis of CIC-5 missense mutations in Dent's disease. PMID: 23211344
14. These results elucidate the biophysical properties of ClC-5 and contribute to the understanding of its physiological role. PMID: 24099800
15. Certain misprocessing mutations in CLC-5 chloride channels alter intramolecular interactions within the full-length protein, ensuring that they do not elicit the unfolded protein response. PMID: 23566014
16. Dent disease-causing CLC-5 mutations have differing effects on endosomal acidification and receptor-mediated endocytosis that may not be coupled. PMID: 23572577
17. ClC-5 overexpression found in biopsies of proteinuric patients suggests that proteinuria may play a part in its expression and that podocytes are likely to have a key role in albumin handling in proteinuric states PMID: 23029130
18. The molecular events underlying the transient currents of ClC-5 emerging from these results can be explained by an inward movement of the side chain of Glu(ext), followed by the binding of extracellular Cl(-) ions. PMID: 22824269
19. protonation of the gating glutamate 211 at the central anion-binding site of ClC-5 is mediated by the proton glutamate 268. PMID: 22267722
20. Heterogeneity in the processing of CLCN5 mutants related to Dent disease. PMID: 21305656
21. A novel CLCN5 mutation is reported in a boy with Bartter-like syndrome and partial growth hormone deficiency. PMID: 20680351
22. data suggest that voltage sensing is an intrinsic property of the CLC-5 protein and that permeant anions, particularly Cl(-), modulate a voltage-dependent transition to an activated state from which Cl(-)/H(+) exchange can occur PMID: 20501796
23. Suggest that CLC-5 is directly involved in endosomal acidification by exchanging endosomal Cl(-) for H(+). PMID: 20421284
24. We discuss the putative role of ClC-5 in receptor-mediated endocytosis and protein uptake by the proximal renal tubule and the possible molecular and cellular consequences of disease-causing mutations[review] PMID: 20049483
25. Propose that protons bind to the extracellular gating glutamate E211 in CLC-5 to block transport. PMID: 20513761
26. Interaction with KIF3B alters CLC-5 cell surface expression, chloride current, and alters albumin endocytosis. Interaction with KIF3B facilitates microtubular transport and endocytosis of CLC-5-containing vesicles away from cell surface. PMID: 19940036
27. ClC-5 mutations are associated with modifications in the polarity and expression of H+-ATPase, but not ultrastructural alterations in kidney proximal tubule cells PMID: 12631345
28. crucial role for the interaction between the two subunits at the interface of the homodimeric hCLC-5. PMID: 12631358
29. CLCN5 gene mutation in spanish patients with Dent's disease is associated with this renal tubulopathy. PMID: 12637640
30. Dent's disease phenotype may be explained by mutations that affect so far unknown regulating elements of the CLCN5 gene or another gene(s), probably encoding CLC-5 accessory protein(s) PMID: 12886045
31. ClC-5 channel activity can be restored for specific Dent's mutations by expression of the missing portion of the ClC-5 molecule. PMID: 13679301
32. the first report of a retrotransposon insertion in the CLCN5 gene associated with Dent's disease PMID: 14569459
33. The segmental expression of ClC-5 and H+-ATPase is essentially achieved during early nephrogenesis, in parallel with the onset of glomerular filtration PMID: 14675051
34. mutation analysis of the coding region of CLCN5 by DNA sequencing in X-linked nephrolithiasis PMID: 15086899
35. Genetic analysis that confirmed the diagnosis pf Dent's disease and revealed a novel mutation in the CLCN5 gene. PMID: 15571186
36. We conclude that overexpression of ClC-5, specifically amino acids 347-647, can alter the normal translation or trafficking of ENaC and other ion transport proteins by a mechanism that is independent of the chloride conductance of ClC-5. PMID: 15702377
37. first report to characterize mutations in the CLCN5 gene in Korean patients with Dent's disease; a novel mutation, E609X was reported PMID: 15719255
38. both nucleotides induce an increase in thermal stability of ClC-5 Ct, supporting the suggestion that both nucleotides interact with and modify the biophysical properties of this prot PMID: 16686597
39. CLCN5 mutation should be considered irrespective of the presence of hypercalciuria in a patient with low molecular weight proteinuria. PMID: 16807762
40. Dent's disease is an inherited tubulopathy caused by CLCN5 gene mutations. PMID: 16822791
41. Study reports the structures of the cytoplasmic domain of the human transporter ClC-5 in complex with ATP and ADP; the nucleotides bind to a specific site in the protein. PMID: 17195847
42. Missense mutation W547G can also alter the expression levels of a CLCN5 mRNA splicing variant. PMID: 17262170
43. abnormalities in the CLCN5 and OCRL1 genes in Dent's disease [review] PMID: 18019214
44. A novel G333R CLCN5 mutation caused defective expression of megalin, cubilin, and Dab2 in a patient with Dent's disease PMID: 18025833
45. CLCN5 mutation in Dent's disease PMID: 18184518
46. Frameshift mutation in CLCN5 protein is associated with Dent disease. PMID: 18540256
47. three classes of Dent's disease-causing CLC-5 mutations: class 1 leads to endoplasmic reticulum retention and degradation of CLC-5; class 2 causes defects in endosomal acidification; class 3 alters endosomal distribution of CLC-5 PMID: 19019917
48. Nitrate uncoupled proton transport but mutating the highly conserved serine 168 to proline in ClC-5, led to coupled NO3(-)/H+ exchange. PMID: 19131966
49. six different truncating mutations cause premature termination of protein translation and result in a non-functional truncated protein PMID: 19546586
50. Report novel CLCN5 mutations in patients with Dent's disease result in altered ion currents or impaired exchanger processing. PMID: 19657328

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HGNC: 2023

OMIM: 300008

KEGG: hsa:1184

STRING: 9606.ENSP00000365256

UniGene: Hs.166486