22q11.2 distal CNV (WP5546)

Homo sapiens

Authors

Chris1330 and Kristina Hanspers

Activity

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Organisms

Homo sapiens

Communities

Annotations

References

1. Structure of a c-Cbl-UbcH7 complex: RING domain function in ubiquitin-protein ligases. Zheng N, Wang P, Jeffrey PD, Pavletich NP. Cell. 2000 Aug 18;102(4):533–9. PubMed Europe PMC Scholia
2. Ypel1: a novel nuclear protein that induces an epithelial-like morphology in fibroblasts. Farlie P, Reid C, Wilcox S, Peeters J, Reed G, Newgreen D. Genes Cells. 2001 Jul;6(7):619–29. PubMed Europe PMC Scholia
3. Identification and characterization of CaMKP-N, nuclear calmodulin-dependent protein kinase phosphatase. Takeuchi M, Ishida A, Kameshita I, Kitani T, Okuno S, Fujisawa H. J Biochem. 2001 Dec;130(6):833–40. PubMed Europe PMC Scholia
4. MAPK signal pathways in the regulation of cell proliferation in mammalian cells. Zhang W, Liu HT. Cell Res. 2002 Mar;12(1):9–18. PubMed Europe PMC Scholia
5. A subset of chaperones and folding enzymes form multiprotein complexes in endoplasmic reticulum to bind nascent proteins. Meunier L, Usherwood YK, Chung KT, Hendershot LM. Mol Biol Cell. 2002 Dec;13(12):4456–69. PubMed Europe PMC Scholia
6. G-proteins as transducers in transmembrane signalling. Offermanns S. Prog Biophys Mol Biol. 2003 Oct;83(2):101–30. PubMed Europe PMC Scholia
7. Regulation of the multifunctional Ca2+/calmodulin-dependent protein kinase II by the PP2C phosphatase PPM1F in fibroblasts. Harvey BP, Banga SS, Ozer HL. J Biol Chem. 2004 Jun 4;279(23):24889–98. PubMed Europe PMC Scholia
8. E2 conjugating enzymes must disengage from their E1 enzymes before E3-dependent ubiquitin and ubiquitin-like transfer. Eletr ZM, Huang DT, Duda DM, Schulman BA, Kuhlman B. Nat Struct Mol Biol. 2005 Oct;12(10):933–4. PubMed Europe PMC Scholia
9. NK lytic-associated molecule, involved in NK cytotoxic function, is an E3 ligase. Fortier JM, Kornbluth J. J Immunol. 2006 Jun 1;176(11):6454–63. PubMed Europe PMC Scholia
10. Melanoregulin (MREG) modulates lysosome function in pigment epithelial cells. Damek-Poprawa M, Diemer T, Lopes VS, Lillo C, Harper DC, Marks MS, et al. J Biol Chem. 2009 Apr 17;284(16):10877–89. PubMed Europe PMC Scholia
11. The ubiquitin-interacting motif protein, S5a, is ubiquitinated by all types of ubiquitin ligases by a mechanism different from typical substrate recognition. Uchiki T, Kim HT, Zhai B, Gygi SP, Johnston JA, O’Bryan JP, et al. J Biol Chem. 2009 May 8;284(19):12622–32. PubMed Europe PMC Scholia
12. Upregulation of SOX9 inhibits the growth of human and mouse melanomas and restores their sensitivity to retinoic acid. Passeron T, Valencia JC, Namiki T, Vieira WD, Passeron H, Miyamura Y, et al. J Clin Invest. 2009 Apr;119(4):954–63. PubMed Europe PMC Scholia
13. The POPX2 phosphatase regulates cancer cell motility and invasiveness. Susila A, Chan H, Loh AXW, Phang HQ, Wong ET, Tergaonkar V, et al. Cell Cycle. 2010 Jan 1;9(1):179–87. PubMed Europe PMC Scholia
14. UBCH7 reactivity profile reveals parkin and HHARI to be RING/HECT hybrids. Wenzel DM, Lissounov A, Brzovic PS, Klevit RE. Nature. 2011 Jun 2;474(7349):105–8. PubMed Europe PMC Scholia
15. RUTBC2 protein, a Rab9A effector and GTPase-activating protein for Rab36. Nottingham RM, Pusapati GV, Ganley IG, Barr FA, Lambright DG, Pfeffer SR. J Biol Chem. 2012 Jun 29;287(27):22740–8. PubMed Europe PMC Scholia
16. Structures of the human and Drosophila 80S ribosome. Anger AM, Armache JP, Berninghausen O, Habeck M, Subklewe M, Wilson DN, et al. Nature. 2013 May 2;497(7447):80–5. PubMed Europe PMC Scholia
17. Mesdc2 plays a key role in cell-surface expression of Lrp4 and postsynaptic specialization in myotubes. Hoshi T, Tezuka T, Yokoyama K, Iemura S ichiro, Natsume T, Yamanashi Y. FEBS Lett. 2013 Nov 29;587(23):3749–54. PubMed Europe PMC Scholia
18. Zinc Finger 280B regulates sGCα1 and p53 in prostate cancer cells. Gao S, Hsieh CL, Zhou J, Shemshedini L. PLoS One. 2013 Nov 13;8(11):e78766. PubMed Europe PMC Scholia
19. SELENOPROTEINS. CRL2 aids elimination of truncated selenoproteins produced by failed UGA/Sec decoding. Lin HC, Ho SC, Chen YY, Khoo KH, Hsu PH, Yen HCS. Science. 2015 Jul 3;349(6243):91–5. PubMed Europe PMC Scholia
20. POPX2 phosphatase regulates apoptosis through the TAK1-IKK-NF-κB pathway. Weng T, Koh CG. Cell Death Dis. 2017 Sep 14;8(9):e3051. PubMed Europe PMC Scholia
21. Structure and Conformational Dynamics of the Human Spliceosomal Bact Complex. Haselbach D, Komarov I, Agafonov DE, Hartmuth K, Graf B, Dybkov O, et al. Cell. 2018 Jan 25;172(3):454-464.e11. PubMed Europe PMC Scholia
22. Role of B-cell receptors for B-cell development and antigen-induced differentiation. Yam-Puc JC, Zhang L, Zhang Y, Toellner KM. F1000Res. 2018 Apr 6;7:429. PubMed Europe PMC Scholia
23. The Role of the Pre-B Cell Receptor in B Cell Development, Repertoire Selection, and Tolerance. Winkler TH, Mårtensson IL. Front Immunol. 2018 Nov 15;9:2423. PubMed Europe PMC Scholia
24. Hepatic Sdf2l1 controls feeding-induced ER stress and regulates metabolism. Sasako T, Ohsugi M, Kubota N, Itoh S, Okazaki Y, Terai A, et al. Nat Commun. 2019 Feb 27;10(1):947. PubMed Europe PMC Scholia
25. YDJC Induces Epithelial-Mesenchymal Transition via Escaping from Interaction with CDC16 through Ubiquitination of PP2A. Kim EJ, Park MK, Kang GJ, Byun HJ, Kim HJ, Yu L, et al. J Oncol. 2019 Aug 7;2019:3542537. PubMed Europe PMC Scholia
26. Phosphatase POPX2 interferes with cell cycle by interacting with Chk1. Kim PR, Koon YL, Lee RTC, Azizan F, Koh DHZ, Chiam KH, et al. Cell Cycle. 2020 Feb;19(4):405–18. PubMed Europe PMC Scholia
27. Human marginal zone B cell development from early T2 progenitors. Tull TJ, Pitcher MJ, Guesdon W, Siu JHY, Lebrero-Fernández C, Zhao Y, et al. J Exp Med. 2021 Apr 5;218(4):e20202001. PubMed Europe PMC Scholia
28. Ubiquitin-Conjugating Enzymes in Cancer. Bui QT, Hong JH, Kwak M, Lee JY, Lee PCW. Cells. 2021 Jun 4;10(6):1383. PubMed Europe PMC Scholia
29. Therapeutics Targeting p53-MDM2 Interaction to Induce Cancer Cell Death. Koo N, Sharma AK, Narayan S. Int J Mol Sci. 2022 Apr 30;23(9):5005. PubMed Europe PMC Scholia
30. A dual-activity topoisomerase complex regulates mRNA translation and turnover. Su S, Xue Y, Sharov A, Zhang Y, Lee SK, Martindale JL, et al. Nucleic Acids Res. 2022 Jul 8;50(12):7013–33. PubMed Europe PMC Scholia
31. Downregulation of ZNF280A inhibits proliferation and tumorigenicity of colorectal cancer cells by promoting the ubiquitination and degradation of RPS14. Tian B, Zhou J, Chen G, Jiang T, Li Q, Qin J. Front Oncol. 2022 Aug 17;12:906281. PubMed Europe PMC Scholia
32. IQUB mutation induces radial spoke 1 deficiency causing asthenozoospermia with normal sperm morphology in humans and mice. Hu T, Tang X, Ruan T, Long S, Liu G, Ma J, et al. Cell Commun Signal. 2025 Jan 23;23(1):41. PubMed Europe PMC Scholia