5q35 copy number variation (WP5380)

Homo sapiens

Authors

Ewoud , Egon Willighagen , Friederike Ehrhart , Alex Pico , Kristina Hanspers , and Eric Weitz

Activity

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Cited In

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Organisms

Homo sapiens

Communities

Rare Diseases

Annotations

Disease Ontology

disease of mental health Sotos syndrome

Pathway Ontology

disease pathway

References

1. Characterization of the human blood coagulation factor XII gene. Intron/exon gene organization and analysis of the 5’-flanking region. Cool DE, MacGillivray RT. J Biol Chem. 1987 Oct 5;262(28):13662–73. PubMed Europe PMC Scholia
2. Signal transduction by fibroblast growth factor receptor-4 (FGFR-4). Comparison with FGFR-1. Vainikka S, Joukov V, Wennström S, Bergman M, Pelicci PG, Alitalo K. J Biol Chem. 1994 Jul 15;269(28):18320–6. PubMed Europe PMC Scholia
3. Expression cloning of human and rat renal cortex Na/Pi cotransport. Magagnin S, Werner A, Markovich D, Sorribas V, Stange G, Biber J, et al. Proc Natl Acad Sci U S A. 1993 Jul 1;90(13):5979–83. PubMed Europe PMC Scholia
4. Mad3 and Mad4: novel Max-interacting transcriptional repressors that suppress c-myc dependent transformation and are expressed during neural and epidermal differentiation. Hurlin PJ, Quéva C, Koskinen PJ, Steingrímsson E, Ayer DE, Copeland NG, et al. EMBO J. 1995 Nov 15;14(22):5646–59. PubMed Europe PMC Scholia
5. Purification and characterization of the carboxyl-domain of human hexokinase type III expressed as fusion protein. Palma F, Agostini D, Mason P, Dachà M, Piccoli G, Biagiarelli B, et al. Mol Cell Biochem. 1996 Feb 9;155(1):23–9. PubMed Europe PMC Scholia
6. The PDZ domain of the LIM protein enigma binds to beta-tropomyosin. Guy PM, Kenny DA, Gill GN. Mol Biol Cell. 1999 Jun;10(6):1973–84. PubMed Europe PMC Scholia
7. Production and characterization of the extracellular domain of recombinant human fibroblast growth factor receptor 4. Loo BB, Darwish KK, Vainikka SS, Saarikettu JJ, Vihko PP, Hermonen JJ, et al. Int J Biochem Cell Biol. 2000 May;32(5):489–97. PubMed Europe PMC Scholia
8. beta-Synuclein inhibits alpha-synuclein aggregation: a possible role as an anti-parkinsonian factor. Hashimoto M, Rockenstein E, Mante M, Mallory M, Masliah E. Neuron. 2001 Oct 25;32(2):213–23. PubMed Europe PMC Scholia
9. Protocadherin LKC, a new candidate for a tumor suppressor of colon and liver cancers, its association with contact inhibition of cell proliferation. Okazaki N, Takahashi N, Kojima SI, Masuho Y, Koga H. Carcinogenesis. 2002 Jul;23(7):1139–48. PubMed Europe PMC Scholia
10. Nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium-phosphate cotransporter. Prié D, Huart V, Bakouh N, Planelles G, Dellis O, Gérard B, et al. N Engl J Med. 2002 Sep 26;347(13):983–91. PubMed Europe PMC Scholia
11. UNC5H1 induces apoptosis via its juxtamembrane region through an interaction with NRAGE. Williams ME, Strickland P, Watanabe K, Hinck L. J Biol Chem. 2003 May 9;278(19):17483–90. PubMed Europe PMC Scholia
12. Profile-based data base scanning for animal L-type lectins and characterization of VIPL, a novel VIP36-like endoplasmic reticulum protein. Nufer O, Mitrovic S, Hauri HP. J Biol Chem. 2003 May 2;278(18):15886–96. PubMed Europe PMC Scholia
13. Dopaminergic supersensitivity in G protein-coupled receptor kinase 6-deficient mice. Gainetdinov RR, Bohn LM, Sotnikova TD, Cyr M, Laakso A, Macrae AD, et al. Neuron. 2003 Apr 24;38(2):291–303. PubMed Europe PMC Scholia
14. Beta-synuclein displays an antiapoptotic p53-dependent phenotype and protects neurons from 6-hydroxydopamine-induced caspase 3 activation: cross-talk with alpha-synuclein and implication for Parkinson’s disease. da Costa CA, Masliah E, Checler F. J Biol Chem. 2003 Sep 26;278(39):37330–5. PubMed Europe PMC Scholia
15. Huntingtin-interacting protein 1 (Hip1) and Hip1-related protein (Hip1R) bind the conserved sequence of clathrin light chains and thereby influence clathrin assembly in vitro and actin distribution in vivo. Chen CY, Brodsky FM. J Biol Chem. 2005 Feb 18;280(7):6109–17. PubMed Europe PMC Scholia
16. Abraxas and RAP80 form a BRCA1 protein complex required for the DNA damage response. Wang B, Matsuoka S, Ballif BA, Zhang D, Smogorzewska A, Gygi SP, et al. Science. 2007 May 25;316(5828):1194–8. PubMed Europe PMC Scholia
17. Tissue-specific expression of betaKlotho and fibroblast growth factor (FGF) receptor isoforms determines metabolic activity of FGF19 and FGF21. Kurosu H, Choi M, Ogawa Y, Dickson AS, Goetz R, Eliseenkova AV, et al. J Biol Chem. 2007 Sep 14;282(37):26687–95. PubMed Europe PMC Scholia
18. Localization of Gi alpha proteins in the centrosomes and at the midbody: implication for their role in cell division. Cho H, Kehrl JH. J Cell Biol. 2007 Jul 16;178(2):245–55. PubMed Europe PMC Scholia
19. SEL1L nucleates a protein complex required for dislocation of misfolded glycoproteins. Mueller B, Klemm EJ, Spooner E, Claessen JH, Ploegh HL. Proc Natl Acad Sci U S A. 2008 Aug 26;105(34):12325–30. PubMed Europe PMC Scholia
20. Arf GAP2 is positively regulated by coatomer and cargo. Luo R, Ha VL, Hayashi R, Randazzo PA. Cell Signal. 2009 Jul;21(7):1169–79. PubMed Europe PMC Scholia
21. Testis-expressed profilins 3 and 4 show distinct functional characteristics and localize in the acroplaxome-manchette complex in spermatids. Behnen M, Murk K, Kursula P, Cappallo-Obermann H, Rothkegel M, Kierszenbaum AL, et al. BMC Cell Biol. 2009 May 6;10:34. PubMed Europe PMC Scholia
22. F-actin-binding protein drebrin regulates CXCR4 recruitment to the immune synapse. Pérez-Martínez M, Gordón-Alonso M, Cabrero JR, Barrero-Villar M, Rey M, Mittelbrunn M, et al. J Cell Sci. 2010 Apr 1;123(Pt 7):1160–70. PubMed Europe PMC Scholia
23. A loss-of-function mutation in NaPi-IIa and renal Fanconi’s syndrome. Magen D, Berger L, Coady MJ, Ilivitzki A, Militianu D, Tieder M, et al. N Engl J Med. 2010 Mar 25;362(12):1102–9. PubMed Europe PMC Scholia
24. Characterizing the novel protein p33MONOX. Mishra M, Inoue N, Heese K. Mol Cell Biochem. 2011 Apr;350(1–2):127–34. PubMed Europe PMC Scholia
25. The structure of NSD1 reveals an autoregulatory mechanism underlying histone H3K36 methylation. Qiao Q, Li Y, Chen Z, Wang M, Reinberg D, Xu RM. J Biol Chem. 2011 Mar 11;286(10):8361–8. PubMed Europe PMC Scholia
26. PRR7 is a transmembrane adaptor protein expressed in activated T cells involved in regulation of T cell receptor signaling and apoptosis. Hrdinka M, Dráber P, Stepánek O, Ormsby T, Otáhal P, Angelisová P, et al. J Biol Chem. 2011 Jun 3;286(22):19617–29. PubMed Europe PMC Scholia
27. Rcf1 mediates cytochrome oxidase assembly and respirasome formation, revealing heterogeneity of the enzyme complex. Vukotic M, Oeljeklaus S, Wiese S, Vögtle FN, Meisinger C, Meyer HE, et al. Cell Metab. 2012 Mar 7;15(3):336–47. PubMed Europe PMC Scholia
28. Spatial regulation of UBXD8 and p97/VCP controls ATGL-mediated lipid droplet turnover. Olzmann JA, Richter CM, Kopito RR. Proc Natl Acad Sci U S A. 2013 Jan 22;110(4):1345–50. PubMed Europe PMC Scholia
29. PLEIAD/SIMC1/C5orf25, a novel autolysis regulator for a skeletal-muscle-specific calpain, CAPN3, scaffolds a CAPN3 substrate, CTBP1. Ono Y, Iemura SI, Novak SM, Doi N, Kitamura F, Natsume T, et al. J Mol Biol. 2013 Aug 23;425(16):2955–72. PubMed Europe PMC Scholia
30. TRIAP1/PRELI complexes prevent apoptosis by mediating intramitochondrial transport of phosphatidic acid. Potting C, Tatsuta T, König T, Haag M, Wai T, Aaltonen MJ, et al. Cell Metab. 2013 Aug 6;18(2):287–95. PubMed Europe PMC Scholia
31. Crystal structures of β-1,4-galactosyltransferase 7 enzyme reveal conformational changes and substrate binding. Tsutsui Y, Ramakrishnan B, Qasba PK. J Biol Chem. 2013 Nov 1;288(44):31963–70. PubMed Europe PMC Scholia
32. Pathogenic mutation of UBQLN2 impairs its interaction with UBXD8 and disrupts endoplasmic reticulum-associated protein degradation. Xia Y, Yan LH, Huang B, Liu M, Liu X, Huang C. J Neurochem. 2014 Apr;129(1):99–106. PubMed Europe PMC Scholia
33. Structural characterization of interactions between the double-stranded RNA-binding zinc finger protein JAZ and nucleic acids. Burge RG, Martinez-Yamout MA, Dyson HJ, Wright PE. Biochemistry. 2014 Mar 11;53(9):1495–510. PubMed Europe PMC Scholia
34. Intestinal brush border assembly driven by protocadherin-based intermicrovillar adhesion. Crawley SW, Shifrin DA Jr, Grega-Larson NE, McConnell RE, Benesh AE, Mao S, et al. Cell. 2014 Apr 10;157(2):433–46. PubMed Europe PMC Scholia
35. Distinct features of cap binding by eIF4E1b proteins. Kubacka D, Miguel RN, Minshall N, Darzynkiewicz E, Standart N, Zuberek J. J Mol Biol. 2015 Jan 30;427(2):387–405. PubMed Europe PMC Scholia
36. Inherited and Somatic Defects in DDX41 in Myeloid Neoplasms. Polprasert C, Schulze I, Sekeres MA, Makishima H, Przychodzen B, Hosono N, et al. Cancer Cell. 2015 May 11;27(5):658–70. PubMed Europe PMC Scholia
37. Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia. Schlingmann KP, Ruminska J, Kaufmann M, Dursun I, Patti M, Kranz B, et al. J Am Soc Nephrol. 2016 Feb;27(2):604–14. PubMed Europe PMC Scholia
38. Loss of the proteostasis factor AIRAPL causes myeloid transformation by deregulating IGF-1 signaling. Osorio FG, Soria-Valles C, Santiago-Fernández O, Bernal T, Mittelbrunn M, Colado E, et al. Nat Med. 2016 Jan;22(1):91–6. PubMed Europe PMC Scholia
39. Synaptonuclear messenger PRR7 inhibits c-Jun ubiquitination and regulates NMDA-mediated excitotoxicity. Kravchick DO, Karpova A, Hrdinka M, Lopez-Rojas J, Iacobas S, Carbonell AU, et al. EMBO J. 2016 Sep 1;35(17):1923–34. PubMed Europe PMC Scholia
40. A Compendium of RNA-Binding Proteins that Regulate MicroRNA Biogenesis. Treiber T, Treiber N, Plessmann U, Harlander S, Daiß JL, Eichner N, et al. Mol Cell. 2017 Apr 20;66(2):270-284.e13. PubMed Europe PMC Scholia
41. Roles for RAB24 in autophagy and disease. Ylä-Anttila P, Eskelinen EL. Small GTPases. 2018 Mar 4;9(1–2):57–65. PubMed Europe PMC Scholia
42. ADAM10-Interacting Tetraspanins Tspan5 and Tspan17 Regulate VE-Cadherin Expression and Promote T Lymphocyte Transmigration. Reyat JS, Chimen M, Noy PJ, Szyroka J, Rainger GE, Tomlinson MG. J Immunol. 2017 Jul 15;199(2):666–76. PubMed Europe PMC Scholia
43. miR-654-5p promotes gastric cancer progression via the GPRIN1/NF-κB pathway. Zhou W, Li P, Jin P. Open Med (Wars). 2021 Nov 9;16(1):1683–95. PubMed Europe PMC Scholia
44. ULK1 Suppresses Osteoclast Differentiation and Bone Resorption via Inhibiting Syk-JNK through DOK3. Zhang Y, Zhang S, Wang Y, Yang Z, Chen Z, Wen N, et al. Oxid Med Cell Longev. 2021 Nov 15;2021:2896674. PubMed Europe PMC Scholia
45. Hypermethylation of HIC2 is a potential prognostic biomarker and tumor suppressor of glioma based on bioinformatics analysis and experiments. Luo F, Liao Y, Cao E, Yang Y, Tang K, Zhou D, et al. CNS Neurosci Ther. 2023 Apr;29(4):1154–67. PubMed Europe PMC Scholia
46. NOP16 is a histone mimetic that regulates Histone H3K27 methylation and gene repression. Takashima K, Lee DJ, Trovero MF, Rothi MH, Mistry M, Zhang Y, et al. bioRxiv. 2023 Jun 13;2023.06.13.544862. PubMed Europe PMC Scholia