The KCTD family of proteins: Structure, function, disease relevance

Cell and Bioscience

Volumn 3, Issue 1, 2013, Pages

  Liu, Zhepeng ^a   Xiang, Yaqian ^b   Sun, Guihong ^a  

^a WUHAN UNIVERSITY   (China)

^b JinChu University of Technology   (China)

Author keywords

Adaptor; BTB domain; KCTD

Indexed keywords

EID: 84887907758     PISSN: None     EISSN: 20453701     Source Type: Journal    
DOI: 10.1186/2045-3701-3-45     Document Type: Review

References (49)

1. Takahashi C, Suzuki T, Nishida E, Kusakabe M. Identification and characterization of Xenopus kctd15, an ectodermal gene repressed by the FGF pathway. Int J Dev Biol 2012, 56(5):393-402. 10.1387/ijdb.113333ct, 22811273.
2. Mei F, Xiang J, Han S, He Y, Lu Y, Xu J, Guo D, Xiao G, Tien P, Sun G. Expression, purification, and secondary structure characterization of recombinant KCTD1. Biochemistry (Mosc) 2012, 77(8):941-945. 10.1134/S0006297912080160, 22860917.
3. Bayon Y, Trinidad AG, De la Puerta ML, Del Carmen RM, Bogetz J, Rojas A, De Pereda JM, Rahmouni S, Williams S, Matsuzawa S, et al. KCTD5, a putative substrate adaptor for cullin3 ubiquitin ligases. FEBS J 2008, 275(15):3900-3910. 10.1111/j.1742-4658.2008.06537.x, 18573101.
4. Melnick A, Ahmad KF, Arai S, Polinger A, Ball H, Borden KL, Carlile GW, Prive GG, Licht JD. In-depth mutational analysis of the promyelocytic leukemia zinc finger BTB/POZ domain reveals motifs and residues required for biological and transcriptional functions. Mol Cell Biol 2000, 20(17):6550-6567. 10.1128/MCB.20.17.6550-6567.2000, 86130, 10938130.
5. Ahmad KF, Melnick A, Lax S, Bouchard D, Liu J, Kiang CL, Mayer S, Takahashi S, Licht JD, Prive GG. Mechanism of SMRT corepressor recruitment by the BCL6 BTB domain. Mol Cell 2003, 12(6):1551-1564. 10.1016/S1097-2765(03)00454-4, 14690607.
6. Kang MIKA, Wakabayashi N, Kim SG, Yamamoto M. Scaffolding of Keap1 to the actin cytoskeleton controls the function of Nrf2 as key regulator of cytoprotective phase 2 genes. Proc Natl Acad Sci U S A 2004, 101:2046-2051. 10.1073/pnas.0308347100, 357049, 14764898.
7. Kreusch A, Pfaffinger PJ, Stevens CF, Choe S. Crystal structure of the tetramerization domain of the Shaker potassium channel. Nature 1998, 392(6679):945-948. 10.1038/31978, 9582078.
8. Minor DL, Lin YF, Mobley BC, Avelar A, Jan YN, Jan LY, Berger JM. The polar T1 interface is linked to conformational changes that open the voltage-gated potassium channel. Cell 2000, 102(5):657-670. 10.1016/S0092-8674(00)00088-X, 11007484.
9. Pintard L, Willems A, Peter M. Cullin-based ubiquitin ligases: Cul3-BTB complexes join the family. EMBO J 2004, 23(8):1681-1687. 10.1038/sj.emboj.7600186, 394240, 15071497.
10. Krek W. BTB proteins as henchmen of Cul3-based ubiquitin ligases. Nat Cell Biol 2003, 5(11):950-951. 10.1038/ncb1103-950, 14593416.
11. Bardwell VJ, Treisman R. The POZ domain: a conserved protein-protein interaction motif. Genes Dev 1994, 8(14):1664-1677. 10.1101/gad.8.14.1664, 7958847.
12. Correale S, Pirone L, Di Marcotullio L, De Smaele E, Greco A, Mazza D, Moretti M, Alterio V, Vitagliano L, Di Gaetano S, et al. Molecular organization of the cullin E3 ligase adaptor KCTD11. Biochimie 2011, 93(4):715-724. 10.1016/j.biochi.2010.12.014, 21237243.
13. Ding X, Luo C, Zhou J, Zhong Y, Hu X, Zhou F, Ren K, Gan L, He A, Zhu J, et al. The interaction of KCTD1 with transcription factor AP-2alpha inhibits its transactivation. J Cell Biochem 2009, 106(2):285-295. 10.1002/jcb.22002, 19115315.
14. Ding XF, Luo C, Ren KQ, Zhang J, Zhou JL, Hu X, Liu RS, Wang Y, Gao X. Characterization and expression of a human KCTD1 gene containing the BTB domain, which mediates transcriptional repression and homomeric interactions. DNA Cell Biol 2008, 27(5):257-265. 10.1089/dna.2007.0662, 18358072.
15. Stogios PJ, Downs GS, Jauhal JJ, Nandra SK, Prive GG. Sequence and structural analysis of BTB domain proteins. Genome Biol 2005, 6(10):R82. 10.1186/gb-2005-6-10-r82, 1257465, 16207353.
16. Dementieva IS, Tereshko V, McCrossan ZA, Solomaha E, Araki D, Xu C, Grigorieff N, Goldstein SA. Pentameric assembly of potassium channel tetramerization domain-containing protein 5. J Mol Biol 2009, 387(1):175-191. 10.1016/j.jmb.2009.01.030, 2670943, 19361449.
17. De Smaele E, Di Marcotullio L, Moretti M, Pelloni M, Occhione MA, Infante P, Cucchi D, Greco A, Pietrosanti L, Todorovic J, et al. Identification and characterization of KCASH2 and KCASH3, 2 novel Cullin3 adaptors suppressing histone deacetylase and Hedgehog activity in medulloblastoma. Neoplasia 2011, 13(4):374-385. 3071086, 21472142.
18. Canettieri LDM G, Greco A, Coni S, Antonucci L, Infante P, Pietrosanti EDS L, Ferretti E, Miele E, Pelloni M, De Simone G, Pedone PG EM, Giorgi A, Steinkühler C, Vitagliano L, Pedone C, Schinin IS ME, Gulino A. Histone deacetylase and Cullin3-REN(KCTD11) ubiquitin ligase interplay regulates hedgehog signalling through Gli acetylation. Nat Cell Biol 2010, 12:132-142. 10.1038/ncb2013, 20081843.
19. De Smaele E, Di Marcotullio L, Ferretti E, Screpanti I, Alesse E, Gulino A. Chromosome 17p deletion in human medulloblastoma: a missing checkpoint in the Hedgehog pathway. Cell Cycle 2004, 3(10):1263-1266. 10.4161/cc.3.10.1200, 15467454.
20. Dutta S, Dawid IB. Kctd15 inhibits neural crest formation by attenuating Wnt/beta-catenin signaling output. Development 2010, 137(18):3013-3018. 10.1242/dev.047548, 2926954, 20685732.
21. Seddik R, Jungblut SP, Silander OK, Rajalu M, Fritzius T, Besseyrias V, Jacquier V, Fakler B, Gassmann M, Bettler B. Opposite effects of KCTD subunit domains on GABA(B) receptor-mediated desensitization. J Biol Chem 2012, 287(47):39869-39877. 10.1074/jbc.M112.412767, 3501043, 23035119.
22. Sand PG, Langguth B, Itzhacki J, Bauer A, Geis S, Cardenas-Conejo ZE, Pimentel V, Kleinjung T. Resequencing of the auxiliary GABA(B) receptor subunit gene KCTD12 in chronic tinnitus. Front Syst Neurosci 2012, 6:41. 3360237, 22654739.
23. Metz M, Gassmann M, Fakler B, Schaeren-Wiemers N, Bettler B. Distribution of the auxiliary GABAB receptor subunits KCTD8, 12, 12b, and 16 in the mouse brain. J Comp Neurol 2011, 519(8):1435-1454. 10.1002/cne.22610, 21452234.
24. Schwenk J, Metz M, Zolles G, Turecek R, Fritzius T, Bildl W, Tarusawa E, Kulik A, Unger A, Ivankova K, et al. Native GABA(B) receptors are heteromultimers with a family of auxiliary subunits. Nature 2010, 465(7295):231-235. 10.1038/nature08964, 20400944.
25. Skoblov M, Marakhonov A, Marakasova E, Guskova A, Chandhoke V, Birerdinc A, Baranova A. Protein partners of KCTD proteins provide insights about their functional roles in cell differentiation and vertebrate development. Bioessays 2013, 35(7):586-596. 10.1002/bies.201300002, 23592240.
26. Furukawa YJH M, Borchers C, Xiong Y. Targeting of protein ubiquitination by BTB-Cullin 3-Roc1 ubiquitin ligases. Nat Cell Biol 2005, 5:1001-1007.
27. Hochstrasser M. Ubiquitin-dependent protein degradation. Annu Rev Genet 1996, 30:405-439. 10.1146/annurev.genet.30.1.405, 8982460.
28. Hershko A, Ciechanover A. The ubiquitin system. Annu Rev Biochem 1998, 67:425-479. 10.1146/annurev.biochem.67.1.425, 9759494.
29. De Smaele LDM E, Moretti M, Pelloni M, Occhione MA, Infante P, Cucchi D, Greco A, Pietrosanti L, Todorovic J, Coni S, Canettieri G, Ferretti E, Bei R, Maroder M, Screpanti I, Gulino A. Identification and characterization of KCASH2 and KCASH3, 2 novel Cullin3 adaptors suppressing histone deacetylase and Hedgehog activity in medulloblastoma. Neoplasia 2010, 13:374-385.
30. Azizieh R, Orduz D, Van Bogaert P, Bouschet T, Rodriguez W, Schiffmann SN, Pirson I, Abramowicz MJ. Progressive myoclonic epilepsy-associated gene KCTD7 is a regulator of potassium conductance in neurons. Mol Neurobiol 2011, 44(1):111-121. 10.1007/s12035-011-8194-0, 21710140.
31. Staropoli JF, Karaa A, Lim ET, Kirby A, Elbalalesy N, Romansky SG, Leydiker KB, Coppel SH, Barone R, Xin W, et al. A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system. Am J Hum Genet 2012, 91(1):202-208. 10.1016/j.ajhg.2012.05.023, 3397260, 22748208.
32. Mancarelli MM, Zazzeroni F, Ciccocioppo L, Capece D, Po A, Murgo S, Di Camillo R, Rinaldi C, Ferretti E, Gulino A, et al. The tumor suppressor gene KCTD11REN is regulated by Sp1 and methylation and its expression is reduced in tumors. Mol Cancer 2010, 9:172. 10.1186/1476-4598-9-172, 2913982, 20591193.
33. Faryna MF, Konermann C, Aulmann S, Bermejo JL, Brugger M, Diederichs S, Rom J, Weichenhan D, Claus R, Rehli M, Schirmacher P, Sinn HP, Plass C, Gerhauser C. Genome-wide methylation screen in low-grade breast cancer identifies novel epigenetically altered genes as potential biomarkers for tumor diagnosis. FASEB J 2012, 26:4937-4950. 10.1096/fj.12-209502, 22930747.
34. Yoganathan P, Karunakaran S, Ho MM, Clee SM. Nutritional regulation of genome-wide association obesity genes in a tissue-dependent manner. Nutr Metab (Lond) 2012, 9(1):65. 10.1186/1743-7075-9-65, 3537611, 22781276.
35. Paternoster L, Evans DM, Nohr EA, Holst C, Gaborieau V, Brennan P, Gjesing AP, Grarup N, Witte DR, Jorgensen T, et al. Genome-wide population-based association study of extremely overweight young adults-the GOYA study. PLoS One 2011, 6(9):e24303. 10.1371/journal.pone.0024303, 3174168, 21935397.
36. David R. Koehler, Gregory P. Downey, Sweezey NB, Tanswell AK, Hu J. Lung inflammation as a therapeutic target in cystic fibrosis. Cell Mol Biol 2004, 31:377-381.
37. Van Bogaert P, Azizieh R, Desir J, Aeby A, De Meirleir L, Laes JF, Christiaens F, Abramowicz MJ. Mutation of a potassium channel-related gene in progressive myoclonic epilepsy. Ann Neurol 2007, 61(6):579-586. 10.1002/ana.21121, 17455289.
38. Kousi M, Anttila V, Schulz A, Calafato S, Jakkula E, Riesch E, Myllykangas L, Kalimo H, Topcu M, Gokben S, et al. Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene. J Med Genet 2012, 49(6):391-399. 10.1136/jmedgenet-2012-100859, 3773914, 22693283.
39. Di Marcotullio L, Ferretti E, De Smaele E, Argenti B, Mincione C, Zazzeroni F, Gallo R, Masuelli L, Napolitano M, Maroder M, et al. REN(KCTD11) is a suppressor of Hedgehog signaling and is deleted in human medulloblastoma. Proc Natl Acad Sci U S A 2004, 101(29):10833-10838. 10.1073/pnas.0400690101, 490020, 15249678.
40. Golzio C, Willer J, Talkowski ME, Oh EC, Taniguchi Y, Jacquemont S, Reymond A, Sun M, Sawa A, Gusella JF, et al. KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant. Nature 2012, 485(7398):363-367. 10.1038/nature11091, 3366115, 22596160.
41. Marneros AG, Beck AE, Turner EH, McMillin MJ, Edwards MJ, Field M, De Macena Sobreira NL, Perez AB, Fortes JA, Lampe AK, et al. Mutations in KCTD1 cause scalp-ear-nipple syndrome. Am J Hum Genet 2013, 92(4):621-626. 10.1016/j.ajhg.2013.03.002, 3617379, 23541344.
42. Junyent M, Parnell LD, Lai CQ, Lee YC, Smith CE, Arnett DK, Tsai MY, Kabagambe EK, Straka RJ, Province M, et al. Novel variants at KCTD10, MVK, and MMAB genes interact with dietary carbohydrates to modulate HDL-cholesterol concentrations in the genetics of lipid lowering drugs and diet network study. Am J Clin Nutr 2009, 90(3):686-694. 10.3945/ajcn.2009.27738, 2728650, 19605566.
43. Hasegawa T, Asanuma H, Ogino J, Hirohashi Y, Shinomura Y, Iwaki H, Kikuchi H, Kondo T. Use of potassium channel tetramerization domain-containing 12 as a biomarker for diagnosis and prognosis of gastrointestinal stromal tumor. Hum Pathol 2013, 44(7):1271-1277. 10.1016/j.humpath.2012.10.013, 23290008.
44. Lwa TR, Tan CH, Lew QJ, Chu KL, Tan J, Lee YY, Chao SH. Identification of cellular genes critical to recombinant protein production using a Gaussia luciferase-based siRNA screening system. J Biotechnol 2010, 146(4):160-168. 10.1016/j.jbiotec.2010.02.016, 20188772.
45. Chen T, Zhu L, Zhou Y, Pi B, Liu X, Deng G, Zhang R, Wang Y, Wu Z, Han M, et al. KCTD9 contributes to liver injury through NK cell activation during hepatitis B virus-induced acute-on-chronic liver failure. Clin Immunol 2013, 146(3):207-216. 10.1016/j.clim.2012.12.013, 23376586.
46. Zhou YY, Zou Y, Chen T, Wang HW, Han MF, Pi B, Yan WM, Xi D, Huang JQ, Luo XP, et al. KCTD9, a novel potassium channel related gene, was highly expressed in hepatic NK cells and T cells of fulminant hepatitis mice induced by MHV-3. Zhonghua Gan Zang Bing Za Zhi 2011, 19(11):833-837.
47. Hayasaki H, Sohma Y, Kanbara K, Otsuki Y. Heterogenous GABA(B) receptor-mediated pathways are involved in the local GABAergic system of the rat trigeminal ganglion: possible involvement of KCTD proteins. Neuroscience 2012, 218:344-358.
48. Zhou J, Ren K, Liu X, Xiong X, Hu X, Zhang J. A novel PDIP1-related protein, KCTD10, that interacts with proliferating cell nuclear antigen and DNA polymerase delta. Biochim Biophys Acta 2005, 1729(3):200-203. 10.1016/j.bbaexp.2005.05.005, 15982757.
49. Huang T, Xu J, Xiang J, Lu Y, Chen R, Huang L, Xiao G, Sun G. PrPC interacts with potassium channel tetramerization domain containing 1 (KCTD1) protein through the PrP(51-136) region containing octapeptide repeats. Biochem Biophys Res Commun 2012, 417(1):182-186. 10.1016/j.bbrc.2011.11.081, 22138399.