16p11.2 proximal deletion syndrome (WP4949)

Homo sapiens

Authors

Friederike Ehrhart , Kristina Hanspers , and Egon Willighagen

Activity

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Cited In

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Organisms

Homo sapiens

Communities

Diseases Rare Diseases

Annotations

Disease Ontology

genetic disease chromosome 16p11.2 deletion syndrome

Pathway Ontology

disease pathway

References

1. Molecular cloning of a novel actin-binding protein, p57, with a WD repeat and a leucine zipper motif. Suzuki K, Nishihata J, Arai Y, Honma N, Yamamoto K, Irimura T, et al. FEBS Lett. 1995 May 15;364(3):283–8. PubMed Europe PMC Scholia
2. The role of CDP-diacylglycerol synthetase and phosphatidylinositol synthase activity levels in the regulation of cellular phosphatidylinositol content. Lykidis A, Jackson PD, Rock CO, Jackowski S. J Biol Chem. 1997 Dec 26;272(52):33402–9. PubMed Europe PMC Scholia
3. Characterization and functional expression of the cDNA encoding human brain quinolinate phosphoribosyltransferase. Fukuoka SI, Nyaruhucha CM, Shibata K. Biochim Biophys Acta. 1998 Jan 21;1395(2):192–201. PubMed Europe PMC Scholia
4. CD43 interacts with moesin and ezrin and regulates its redistribution to the uropods of T lymphocytes at the cell-cell contacts. Serrador JM, Nieto M, Alonso-Lebrero JL, del Pozo MA, Calvo J, Furthmayr H, et al. Blood. 1998 Jun 15;91(12):4632–44. PubMed Europe PMC Scholia
5. Interaction of vault particles with estrogen receptor in the MCF-7 breast cancer cell. Abbondanza C, Rossi V, Roscigno A, Gallo L, Belsito A, Piluso G, et al. J Cell Biol. 1998 Jun 15;141(6):1301–10. PubMed Europe PMC Scholia
6. Core histones and HIRIP3, a novel histone-binding protein, directly interact with WD repeat protein HIRA. Lorain S, Quivy JP, Monier-Gavelle F, Scamps C, Lécluse Y, Almouzni G, et al. Mol Cell Biol. 1998 Sep;18(9):5546–56. PubMed Europe PMC Scholia
7. Protein phosphatase X interacts with c-Rel and stimulates c-Rel/nuclear factor kappaB activity. Hu MC, Tang-Oxley Q, Qiu WR, Wang YP, Mihindukulasuriya KA, Afshar R, et al. J Biol Chem. 1998 Dec 11;273(50):33561–5. PubMed Europe PMC Scholia
8. The 193-kD vault protein, VPARP, is a novel poly(ADP-ribose) polymerase. Kickhoefer VA, Siva AC, Kedersha NL, Inman EM, Ruland C, Streuli M, et al. J Cell Biol. 1999 Sep 6;146(5):917–28. PubMed Europe PMC Scholia
9. Fetal Alz-50 clone 1 (FAC1) protein interacts with the Myc-associated zinc finger protein (ZF87/MAZ) and alters its transcriptional activity. Jordan-Sciutto KL, Dragich JM, Caltagarone J, Hall DJ, Bowser R. Biochemistry. 2000 Mar 28;39(12):3206–15. PubMed Europe PMC Scholia
10. SIAH-1 interacts with alpha-tubulin and degrades the kinesin Kid by the proteasome pathway during mitosis. Germani A, Bruzzoni-Giovanelli H, Fellous A, Gisselbrecht S, Varin-Blank N, Calvo F. Oncogene. 2000 Dec 7;19(52):5997–6006. PubMed Europe PMC Scholia
11. Regulation of stress-responsive mitogen-activated protein (MAP) kinase pathways by TAO2. Chen Z, Cobb MH. J Biol Chem. 2001 May 11;276(19):16070–5. PubMed Europe PMC Scholia
12. A tumor necrosis factor alpha- and interleukin 6-inducible protein that interacts with the small subunit of DNA polymerase delta and proliferating cell nuclear antigen. He H, Tan CK, Downey KM, So AG. Proc Natl Acad Sci U S A. 2001 Oct 9;98(21):11979–84. PubMed Europe PMC Scholia
13. PTEN associates with the vault particles in HeLa cells. Yu Z, Fotouhi-Ardakani N, Wu L, Maoui M, Wang S, Banville D, et al. J Biol Chem. 2002 Oct 25;277(43):40247–52. PubMed Europe PMC Scholia
14. Two mammalian longevity assurance gene (LAG1) family members, trh1 and trh4, regulate dihydroceramide synthesis using different fatty acyl-CoA donors. Riebeling C, Allegood JC, Wang E, Merrill AH Jr, Futerman AH. J Biol Chem. 2003 Oct 31;278(44):43452–9. PubMed Europe PMC Scholia
15. Identification and characterization of a novel gene family YPEL in a wide spectrum of eukaryotic species. Hosono K, Sasaki T, Minoshima S, Shimizu N. Gene. 2004 Sep 29;340(1):31–43. PubMed Europe PMC Scholia
16. Histone deacetylase 3 (HDAC3) activity is regulated by interaction with protein serine/threonine phosphatase 4. Zhang X, Ozawa Y, Lee H, Wen YD, Tan TH, Wadzinski BE, et al. Genes Dev. 2005 Apr 1;19(7):827–39. PubMed Europe PMC Scholia
17. Disturbance of cerebellar synaptic maturation in mutant mice lacking BSRPs, a novel brain-specific receptor-like protein family. Miyazaki T, Hashimoto K, Uda A, Sakagami H, Nakamura Y, Saito S ya, et al. FEBS Lett. 2006 Jul 24;580(17):4057–64. PubMed Europe PMC Scholia
18. hZG16, a novel human secreted protein expressed in liver, was down-regulated in hepatocellular carcinoma. Zhou YB, Cao JB, Yang HM, Zhu H, Xu ZG, Wang KS, et al. Biochem Biophys Res Commun. 2007 Apr 13;355(3):679–86. PubMed Europe PMC Scholia
19. Structural and kinetic characterization of quinolinate phosphoribosyltransferase (hQPRTase) from homo sapiens. Liu H, Woznica K, Catton G, Crawford A, Botting N, Naismith JH. J Mol Biol. 2007 Oct 26;373(3):755–63. PubMed Europe PMC Scholia
20. Protein phosphatase 4 negatively regulates LPS cascade by inhibiting ubiquitination of TRAF6. Chen L, Dong W, Zou T, Ouyang L, He G, Liu Y, et al. FEBS Lett. 2008 Aug 20;582(19):2843–9. PubMed Europe PMC Scholia
21. PP4R4/KIAA1622 forms a novel stable cytosolic complex with phosphoprotein phosphatase 4. Chen GI, Tisayakorn S, Jorgensen C, D’Ambrosio LM, Goudreault M, Gingras AC. J Biol Chem. 2008 Oct 24;283(43):29273–84. PubMed Europe PMC Scholia
22. Accumulation of Pax2 transactivation domain interaction protein (PTIP) at sites of DNA breaks via RNF8-dependent pathway is required for cell survival after DNA damage. Gong Z, Cho YW, Kim JE, Ge K, Chen J. J Biol Chem. 2009 Mar 13;284(11):7284–93. PubMed Europe PMC Scholia
23. Alterations in gene expression and sensitivity to genotoxic stress following HdmX or Hdm2 knockdown in human tumor cells harboring wild-type p53. Heminger K, Markey M, Mpagi M, Berberich SJ. Aging (Albany NY). 2009 Jan;1(1):89–108. PubMed Europe PMC Scholia
24. Identification of a novel cell death receptor mediating IGFBP-3-induced anti-tumor effects in breast and prostate cancer. Ingermann AR, Yang YF, Han J, Mikami A, Garza AE, Mohanraj L, et al. J Biol Chem. 2010 Sep 24;285(39):30233–46. PubMed Europe PMC Scholia
25. PA1 protein, a new competitive decelerator acting at more than one step to impede glucocorticoid receptor-mediated transactivation. Zhang Z, Sun Y, Cho YW, Chow CC, Simons SS Jr. J Biol Chem. 2013 Jan 4;288(1):42–58. PubMed Europe PMC Scholia
26. Fss/Tbx6 is required for central dermomyotome cell fate in zebrafish. Windner SE, Bird NC, Patterson SE, Doris RA, Devoto SH. Biol Open. 2012 Aug 15;1(8):806–14. PubMed Europe PMC Scholia
27. Fam57b (family with sequence similarity 57, member B), a novel peroxisome proliferator-activated receptor γ target gene that regulates adipogenesis through ceramide synthesis. Yamashita-Sugahara Y, Tokuzawa Y, Nakachi Y, Kanesaki-Yatsuka Y, Matsumoto M, Mizuno Y, et al. J Biol Chem. 2013 Feb 15;288(7):4522–37. PubMed Europe PMC Scholia
28. The crystal structure of human quinolinic acid phosphoribosyltransferase in complex with its inhibitor phthalic acid. Malik SS, Patterson DN, Ncube Z, Toth EA. Proteins. 2014 Mar;82(3):405–14. PubMed Europe PMC Scholia
29. The PP4R1 subunit of protein phosphatase PP4 targets TRAF2 and TRAF6 to mediate inhibition of NF-κB activation. Hadweh P, Habelhah H, Kieff E, Mosialos G, Hatzivassiliou E. Cell Signal. 2014 Dec;26(12):2730–7. PubMed Europe PMC Scholia
30. Tbx6, Mesp-b and Ripply1 regulate the onset of skeletal myogenesis in zebrafish. Windner SE, Doris RA, Ferguson CM, Nelson AC, Valentin G, Tan H, et al. Development. 2015 Mar 15;142(6):1159–68. PubMed Europe PMC Scholia
31. The evolving spectrum of PRRT2-associated paroxysmal diseases. Ebrahimi-Fakhari D, Saffari A, Westenberger A, Klein C. Brain. 2015 Dec;138(Pt 12):3476–95. PubMed Europe PMC Scholia
32. Active zone scaffolds differentially accumulate Unc13 isoforms to tune Ca(2+) channel-vesicle coupling. Böhme MA, Beis C, Reddy-Alla S, Reynolds E, Mampell MM, Grasskamp AT, et al. Nat Neurosci. 2016 Oct;19(10):1311–20. PubMed Europe PMC Scholia
33. Calcium-dependent generation of N-acylethanolamines and lysophosphatidic acids by glycerophosphodiesterase GDE7. Rahman IAS, Tsuboi K, Hussain Z, Yamashita R, Okamoto Y, Uyama T, et al. Biochim Biophys Acta. 2016 Dec;1861(12 Pt A):1881–92. PubMed Europe PMC Scholia
34. The INO80 remodeller in transcription, replication and repair. Poli J, Gasser SM, Papamichos-Chronakis M. Philos Trans R Soc Lond B Biol Sci. 2017 Oct 5;372(1731):20160290. PubMed Europe PMC Scholia
35. Kctd13-deficient mice display short-term memory impairment and sex-dependent genetic interactions. Arbogast T, Razaz P, Ellegood J, McKinstry SU, Erdin S, Currall B, et al. Hum Mol Genet. 2019 May 1;28(9):1474–86. PubMed Europe PMC Scholia
36. The expanding spectrum of movement disorders in genetic epilepsies. Papandreou A, Danti FR, Spaull R, Leuzzi V, Mctague A, Kurian MA. Dev Med Child Neurol. 2020 Feb;62(2):178–91. PubMed Europe PMC Scholia
37. Biosynthesis of the anti-lipid-microdomain sphingoid base 4,14-sphingadiene by the ceramide desaturase FADS3. Jojima K, Edagawa M, Sawai M, Ohno Y, Kihara A. FASEB J. 2020 Feb;34(2):3318–35. PubMed Europe PMC Scholia
38. Spermatozoa lacking Fertilization Influencing Membrane Protein (FIMP) fail to fuse with oocytes in mice. Fujihara Y, Lu Y, Noda T, Oji A, Larasati T, Kojima-Kita K, et al. Proc Natl Acad Sci U S A. 2020 Apr 28;117(17):9393–400. PubMed Europe PMC Scholia