11p11.2 copy number variation syndrome (WP5348)
Homo sapiens
11p11.2 copy number variation syndrome (homo sapiens)
Authors
Esther Umwamikazi , Friederike Ehrhart , Ash Iyer , and Egon WillighagenActivity
Discuss this pathway
Check for ongoing discussions or start your own.
Cited By
Are you planning to include this pathway in your next publication? See How to Cite and add a link here to your paper once it's online.
Organisms
Homo sapiensCommunities
Diseases Rare DiseasesAnnotations
Pathway Ontology
disease pathwayReferences
- Molecular analyses of the association of CD4 with two members of the transmembrane 4 superfamily, CD81 and CD82. Imai T, Kakizaki M, Nishimura M, Yoshie O. J Immunol. 1995 Aug 1;155(3):1229–39. PubMed Europe PMC Scholia
- Transmembrane-4 superfamily proteins CD81 (TAPA-1), CD82, CD63, and CD53 specifically associated with integrin alpha 4 beta 1 (CD49d/CD29). Mannion BA, Berditchevski F, Kraeft SK, Chen LB, Hemler ME. J Immunol. 1996 Sep 1;157(5):2039–47. PubMed Europe PMC Scholia
- Supramolecular complexes of MHC class I, MHC class II, CD20, and tetraspan molecules (CD53, CD81, and CD82) at the surface of a B cell line JY. Szöllósi J, Horejsí V, Bene L, Angelisová P, Damjanovich S. J Immunol. 1996 Oct 1;157(7):2939–46. PubMed Europe PMC Scholia
- Molecular cloning and characterization of human keratan sulfate Gal-6-sulfotransferase. Fukuta M, Inazawa J, Torii T, Tsuzuki K, Shimada E, Habuchi O. J Biol Chem. 1997 Dec 19;272(51):32321–8. PubMed Europe PMC Scholia
- The expression of the KAI1 gene, a tumor metastasis suppressor, is directly activated by p53. Mashimo T, Watabe M, Hirota S, Hosobe S, Miura K, Tegtmeyer PJ, et al. Proc Natl Acad Sci U S A. 1998 Sep 15;95(19):11307–11. PubMed Europe PMC Scholia
- The tetraspan protein CD82 is a resident of MHC class II compartments where it associates with HLA-DR, -DM, and -DO molecules. Hammond C, Denzin LK, Pan M, Griffith JM, Geuze HJ, Cresswell P. J Immunol. 1998 Oct 1;161(7):3282–91. PubMed Europe PMC Scholia
- CD19 is linked to the integrin-associated tetraspans CD9, CD81, and CD82. Horváth G, Serru V, Clay D, Billard M, Boucheix C, Rubinstein E. J Biol Chem. 1998 Nov 13;273(46):30537–43. PubMed Europe PMC Scholia
- Gamma-glutamyl transpeptidase, an ecto-enzyme regulator of intracellular redox potential, is a component of TM4 signal transduction complexes. Nichols TC, Guthridge JM, Karp DR, Molina H, Fletcher DR, Holers VM. Eur J Immunol. 1998 Dec;28(12):4123–9. PubMed Europe PMC Scholia
- Light-independent role of CRY1 and CRY2 in the mammalian circadian clock. Griffin EA Jr, Staknis D, Weitz CJ. Science. 1999 Oct 22;286(5440):768–71. PubMed Europe PMC Scholia
- Overexpression of CD82 on human T cells enhances LFA-1 / ICAM-1-mediated cell-cell adhesion: functional association between CD82 and LFA-1 in T cell activation. Shibagaki N, Hanada K i, Yamashita H, Shimada S, Hamada H. Eur J Immunol. 1999 Dec;29(12):4081–91. PubMed Europe PMC Scholia
- PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis. Sacksteder KA, Jones JM, South ST, Li X, Liu Y, Gould SJ. J Cell Biol. 2000 Mar 6;148(5):931–44. PubMed Europe PMC Scholia
- Importance of the major extracellular domain of CD9 and the epidermal growth factor (EGF)-like domain of heparin-binding EGF-like growth factor for up-regulation of binding and activity. Nakamura K, Mitamura T, Takahashi T, Kobayashi T, Mekada E. J Biol Chem. 2000 Jun 16;275(24):18284–90. PubMed Europe PMC Scholia
- The gene defective in leukocyte adhesion deficiency II encodes a putative GDP-fucose transporter. Lühn K, Wild MK, Eckhardt M, Gerardy-Schahn R, Vestweber D. Nat Genet. 2001 May;28(1):69–72. PubMed Europe PMC Scholia
- Requirement of the JIP1 scaffold protein for stress-induced JNK activation. Whitmarsh AJ, Kuan CY, Kennedy NJ, Kelkar N, Haydar TF, Mordes JP, et al. Genes Dev. 2001 Sep 15;15(18):2421–32. PubMed Europe PMC Scholia
- The DNA sequence and analysis of human chromosome 6. Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL, Wilming L, et al. Nature. 2003 Oct 23;425(6960):805–11. PubMed Europe PMC Scholia
- KAI1 COOH-terminal interacting tetraspanin (KITENIN), a member of the tetraspanin family, interacts with KAI1, a tumor metastasis suppressor, and enhances metastasis of cancer. Lee JH, Park SR, Chay KO, Seo YW, Kook H, Ahn KY, et al. Cancer Res. 2004 Jun 15;64(12):4235–43. PubMed Europe PMC Scholia
- The palmitoylation of metastasis suppressor KAI1/CD82 is important for its motility- and invasiveness-inhibitory activity. Zhou B, Liu L, Reddivari M, Zhang XA. Cancer Res. 2004 Oct 15;64(20):7455–63. PubMed Europe PMC Scholia
- Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy. Brockington M, Torelli S, Prandini P, Boito C, Dolatshad NF, Longman C, et al. Hum Mol Genet. 2005 Mar 1;14(5):657–65. PubMed Europe PMC Scholia
- Regulation of LSD1 histone demethylase activity by its associated factors. Shi YJ, Matson C, Lan F, Iwase S, Baba T, Shi Y. Mol Cell. 2005 Sep 16;19(6):857–64. PubMed Europe PMC Scholia
- A human protein-protein interaction network: a resource for annotating the proteome. Stelzl U, Worm U, Lalowski M, Haenig C, Brembeck FH, Goehler H, et al. Cell. 2005 Sep 23;122(6):957–68. PubMed Europe PMC Scholia
- Large-scale mapping of human protein-protein interactions by mass spectrometry. Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, et al. Mol Syst Biol. 2007;3:89. PubMed Europe PMC Scholia
- An atlas of combinatorial transcriptional regulation in mouse and man. Ravasi T, Suzuki H, Cannistraci CV, Katayama S, Bajic VB, Tan K, et al. Cell. 2010 Mar 5;140(5):744–52. PubMed Europe PMC Scholia
- Glycoprotein 90K, downregulated in advanced colorectal cancer tissues, interacts with CD9/CD82 and suppresses the Wnt/beta-catenin signal via ISGylation of beta-catenin. Lee JH, Bae JA, Lee JH, Seo YW, Kho DH, Sun EG, et al. Gut. 2010 Jul;59(7):907–17. PubMed Europe PMC Scholia
- A directed protein interaction network for investigating intracellular signal transduction. Vinayagam A, Stelzl U, Foulle R, Plassmann S, Zenkner M, Timm J, et al. Sci Signal. 2011 Sep 6;4(189):rs8. PubMed Europe PMC Scholia
- Toward an understanding of the protein interaction network of the human liver. Wang J, Huo K, Ma L, Tang L, Li D, Huang X, et al. Mol Syst Biol. 2011 Oct 11;7:536. PubMed Europe PMC Scholia
- Development and application of a DNA microarray-based yeast two-hybrid system. Suter B, Fontaine JF, Yildirimman R, Raskó T, Schaefer MH, Rasche A, et al. Nucleic Acids Res. 2013 Feb 1;41(3):1496–507. PubMed Europe PMC Scholia
- Human-chromatin-related protein interactions identify a demethylase complex required for chromosome segregation. Marcon E, Ni Z, Pu S, Turinsky AL, Trimble SS, Olsen JB, et al. Cell Rep. 2014 Jul 10;8(1):297–310. PubMed Europe PMC Scholia
- Using an in situ proximity ligation assay to systematically profile endogenous protein-protein interactions in a pathway network. Chen TC, Lin KT, Chen CH, Lee SA, Lee PY, Liu YW, et al. J Proteome Res. 2014 Dec 5;13(12):5339–46. PubMed Europe PMC Scholia
- A proteome-scale map of the human interactome network. Rolland T, Taşan M, Charloteaux B, Pevzner SJ, Zhong Q, Sahni N, et al. Cell. 2014 Nov 20;159(5):1212–26. PubMed Europe PMC Scholia
- Proteomic analyses reveal distinct chromatin-associated and soluble transcription factor complexes. Li X, Wang W, Wang J, Malovannaya A, Xi Y, Li W, et al. Mol Syst Biol. 2015 Jan 21;11(1):775. PubMed Europe PMC Scholia
- A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. Gupta GD, Coyaud É, Gonçalves J, Mojarad BA, Liu Y, Wu Q, et al. Cell. 2015 Dec 3;163(6):1484–99. PubMed Europe PMC Scholia
- TspanC8 tetraspanins differentially regulate the cleavage of ADAM10 substrates, Notch activation and ADAM10 membrane compartmentalization. Jouannet S, Saint-Pol J, Fernandez L, Nguyen V, Charrin S, Boucheix C, et al. Cell Mol Life Sci. 2016 May;73(9):1895–915. PubMed Europe PMC Scholia
- Functional expression of a human GDP-L-fucose transporter in Escherichia coli. Förster-Fromme K, Schneider S, Sprenger GA, Albermann C. Biotechnol Lett. 2017 Feb;39(2):219–26. PubMed Europe PMC Scholia
- TIMP-1 and CD82, a promising combined evaluation marker for PDAC. Zhang J, Wu T, Zhan S, Qiao N, Zhang X, Zhu Y, et al. Oncotarget. 2017 Jan 24;8(4):6496–512. PubMed Europe PMC Scholia
- A novel transmembrane protein defines the endoplasmic reticulum stress-induced cell death pathway. Tamaki T, Kamatsuka K, Sato T, Morooka S, Otsuka K, Hattori M, et al. Biochem Biophys Res Commun. 2017 Apr 22;486(1):149–55. PubMed Europe PMC Scholia
- Systematic protein-protein interaction mapping for clinically relevant human GPCRs. Sokolina K, Kittanakom S, Snider J, Kotlyar M, Maurice P, Gandía J, et al. Mol Syst Biol. 2017 Mar 15;13(3):918. PubMed Europe PMC Scholia
- Architecture of the human interactome defines protein communities and disease networks. Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K, et al. Nature. 2017 May 25;545(7655):505–9. PubMed Europe PMC Scholia
- Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. Fei T, Chen Y, Xiao T, Li W, Cato L, Zhang P, et al. Proc Natl Acad Sci U S A. 2017 Jun 27;114(26):E5207–15. PubMed Europe PMC Scholia
- The STUbL RNF4 regulates protein group SUMOylation by targeting the SUMO conjugation machinery. Kumar R, González-Prieto R, Xiao Z, Verlaan-de Vries M, Vertegaal ACO. Nat Commun. 2017 Nov 27;8(1):1809. PubMed Europe PMC Scholia
- VIRMA mediates preferential m6A mRNA methylation in 3’UTR and near stop codon and associates with alternative polyadenylation. Yue Y, Liu J, Cui X, Cao J, Luo G, Zhang Z, et al. Cell Discov. 2018 Feb 27;4:10. PubMed Europe PMC Scholia
- Quantitative mapping of RNA-mediated nuclear estrogen receptor β interactome in human breast cancer cells. Giurato G, Nassa G, Salvati A, Alexandrova E, Rizzo F, Nyman TA, et al. Sci Data. 2018 Mar 6;5:180031. PubMed Europe PMC Scholia
- A protein-protein interaction map of the TNF-induced NF-κB signal transduction pathway. Van Quickelberghe E, De Sutter D, van Loo G, Eyckerman S, Gevaert K. Sci Data. 2018 Dec 18;5:180289. PubMed Europe PMC Scholia
- H4K20me0 recognition by BRCA1-BARD1 directs homologous recombination to sister chromatids. Nakamura K, Saredi G, Becker JR, Foster BM, Nguyen NV, Beyer TE, et al. Nat Cell Biol. 2019 Mar;21(3):311–8. PubMed Europe PMC Scholia
- Impaired plasma membrane localization of ubiquitin ligase complex underlies 3-M syndrome development. Wang P, Yan F, Li Z, Yu Y, Parnell SE, Xiong Y. J Clin Invest. 2019 Jul 25;129(10):4393–407. PubMed Europe PMC Scholia
- Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations. Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, et al. Nat Commun. 2019 Sep 12;10(1):4141. PubMed Europe PMC Scholia
- The RNA-mediated estrogen receptor α interactome of hormone-dependent human breast cancer cell nuclei. Nassa G, Giurato G, Salvati A, Gigantino V, Pecoraro G, Lamberti J, et al. Sci Data. 2019 Sep 16;6(1):173. PubMed Europe PMC Scholia
- A reference map of the human binary protein interactome. Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, et al. Nature. 2020 Apr;580(7803):402–8. PubMed Europe PMC Scholia
- SUMOylation of DDX39A Alters Binding and Export of Antiviral Transcripts to Control Innate Immunity. Shi P, Guo Y, Su Y, Zhu M, Fu Y, Chi H, et al. J Immunol. 2020 Jul 1;205(1):168–80. PubMed Europe PMC Scholia
- RIG-I regulates myeloid differentiation by promoting TRIM25-mediated ISGylation. Wu SF, Xia L, Shi XD, Dai YJ, Zhang WN, Zhao JM, et al. Proc Natl Acad Sci U S A. 2020 Jun 23;117(25):14395–404. PubMed Europe PMC Scholia
- UFMylation maintains tumour suppressor p53 stability by antagonizing its ubiquitination. Liu J, Guan D, Dong M, Yang J, Wei H, Liang Q, et al. Nat Cell Biol. 2020 Sep;22(9):1056–63. PubMed Europe PMC Scholia
- Comprehensive mapping of the human cytokine gene regulatory network. Santoso CS, Li Z, Lal S, Yuan S, Gan KA, Agosto LM, et al. Nucleic Acids Res. 2020 Dec 2;48(21):12055–73. PubMed Europe PMC Scholia
- Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, Bruckner RJ, Navarrete-Perea J, Cannon JR, Baltier K, Gebreab F, et al. Cell. 2021 May 27;184(11):3022-3040.e28. PubMed Europe PMC Scholia
- OpenCell: Endogenous tagging for the cartography of human cellular organization. Cho NH, Cheveralls KC, Brunner AD, Kim K, Michaelis AC, Raghavan P, et al. Science. 2022 Mar 11;375(6585):eabi6983. PubMed Europe PMC Scholia
- Molecular cloning, characterization, and functional analysis of the uncharacterized C11orf96 gene. Yang H, Zhu J, Guo H, Tang A, Chen S, Zhang D, et al. BMC Vet Res. 2022 May 10;18(1):170. PubMed Europe PMC Scholia
- C11orf94/Frey is a key regulator for male fertility by controlling Izumo1 complex assembly. Contreras W, Wiesehöfer C, Schreier D, Leinung N, Peche P, Wennemuth G, et al. Sci Adv. 2022 Aug 12;8(32):eabo6049. PubMed Europe PMC Scholia