A unique IBMPFD-related P97/VCP mutation with differential binding pattern and subcellular localization

International Journal of Biochemistry and Cell Biology

Volumn 45, Issue 4, 2013, Pages 773-782

  Erzurumlu, Yalcin ^a   Aydin Kose, Fadime ^a   Gozen, Oguz ^a   Gozuacik, Devrim ^b   Toth, Eric A ^c   Ballar, Petek ^a  

^a EGE UNIVERSITY   (Turkey)

^b SABANCI UNIVERSITY   (Turkey)

^c UNIVERSITY OF MARYLAND SCHOOL OF MEDICINE   (United States)

Author keywords

ERAD; IBMPFD; p97 VCP; Proteasome; Protein degradation

Indexed keywords

ADENOSINE TRIPHOSPHATASE; GLYCOPROTEIN; GLYCOPROTEIN GP 78; MUTANT PROTEIN; NPL4 PROTEIN; PROTEIN P47; PROTEIN P97; RECOMBINANT PROTEIN; UFD1 PROTEIN; UNCLASSIFIED DRUG; VALOSIN CONTAINING PROTEIN;

AMINO ACID SEQUENCE; ANIMAL CELL; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CELL VIABILITY; CELLULAR DISTRIBUTION; CONTROLLED STUDY; EMBRYO; ENDOPLASMIC RETICULUM ASSOCIATED DEGRADATION; GENE MUTATION; HUMAN; HUMAN CELL; IN VITRO STUDY; INCLUSION BODY MYOPATHY ASSOCIATED WITH PAGET DISEASE OF THE BONE AND FRONTOTEMPORAL DEMENTIA; MISSENSE MUTATION; MOLECULAR PATHOLOGY; MOUSE; MUTANT; MYOBLAST; NONHUMAN; PROTEIN ANALYSIS; PROTEIN BINDING; PROTEIN FUNCTION; PROTEIN MOTIF; PROTEIN PROTEIN INTERACTION;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADENOSINE TRIPHOSPHATASES; AMINO ACID SEQUENCE; ANIMALS; CELL LINE; COENZYMES; CONSERVED SEQUENCE; ENDOPLASMIC RETICULUM-ASSOCIATED DEGRADATION; FRONTOTEMPORAL DEMENTIA; HUMANS; INTRACELLULAR SPACE; MICE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION; MYOSITIS, INCLUSION BODY; NUCLEAR PROTEINS; OSTEITIS DEFORMANS; OXIDATIVE STRESS; PROTEIN BINDING; PROTEIN CONFORMATION; PROTEIN TRANSPORT; PROTEINS; RATS; UBIQUITIN;

EID: 84873699402     PISSN: 13572725     EISSN: 18785875     Source Type: Journal    
DOI: 10.1016/j.biocel.2013.01.006     Document Type: Article

References (55)

1. P. Ballar, A.U. Ors, H. Yang, and S. Fang Differential regulation of CFTRDeltaF508 degradation by ubiquitin ligases gp78 and Hrd1 International Journal of Biochemistry and Cell Biology 42 2010 167 173
2. P. Ballar, A. Pabuccuoglu, and F.A. Kose Different p97/VCP complexes function in retrotranslocation step of mammalian ER-associated degradation (ERAD) International Journal of Biochemistry and Cell Biology 43 2011 613 621
3. P. Ballar, Y. Shen, H. Yang, and S. Fang The role of a novel p97/valosin-containing protein-interacting motif of gp78 in endoplasmic reticulum-associated degradation Journal of Biological Chemistry 281 2006 35359 35368
4. N.W. Bays, and R.Y. Hampton Cdc48-Ufd1-Npl4: stuck in the middle with Ub Current Biology 12 2002 R366 R371
5. A. Bersano, R. Del Bo, C. Lamperti, S. Ghezzi, G. Fagiolari, and F. Fortunato Inclusion body myopathy and frontotemporal dementia caused by a novel VCP mutation Neurobiology of Aging 30 2009 752 758
6. S. Braun, K. Matuschewski, M. Rape, S. Thoms, and S. Jentsch Role of the ubiquitin-selective CDC48(UFD1/NPL4)chaperone (segregase) in ERAD of OLE1 and other substrates EMBO Journal 21 2002 615 621
7. J. Cao, J. Wang, W. Qi, H.H. Miao, J. Wang, and L. Ge Ufd1 is a cofactor of gp78 and plays a key role in cholesterol metabolism by regulating the stability of HMG-CoA reductase Cell Metabolism 6 2007 115 128
8. K. Cao, R. Nakajima, H.H. Meyer, and Y. Zheng The AAA-ATPase Cdc48/p97 regulates spindle disassembly at the end of mitosis Cell 115 2003 355 367
9. E. Chapman, A.N. Fry, and M. Kang The complexities of p97 function in health and disease Molecular Biosystems 7 2011 700 710
10. B. DeLaBarre, J.C. Christianson, R.R. Kopito, and A.T. Brunger Central pore residues mediate the p97/VCP activity required for ERAD Molecular Cell 22 2006 451 462
11. A. Djamshidian, J. Schaefer, D. Haubenberger, E. Stogmann, F. Zimprich, and E. Auff A novel mutation in the VCP gene (G157R) in a German family with inclusion-body myopathy with Paget disease of bone and frontotemporal dementia Muscle and Nerve 39 2009 389 391
12. S. Fang, M. Ferrone, C. Yang, J.P. Jensen, S. Tiwari, and A.M. Weissman The tumor autocrine motility factor receptor, gp78, is a ubiquitin protein ligase implicated in degradation from the endoplasmic reticulum Proceedings of the National Academy of Sciences of the United States of America 98 2001 14422 14427
13. V. Fernández-Sáiz, and A. Buchberger Imbalances in p97 co-factor interactions in human proteinopathy EMBO Reports 11 2010 479 485
14. M.S. Forman, I.R. Mackenzie, N.J. Cairns, E. Swanson, P.J. Boyer, and D.A. Drachman Novel ubiquitin neuropathology in frontotemporal dementia with valosin-containing protein gene mutations Journal of Neuropathology and Experimental Neurology 65 2006 571 581
15. M.A. Gitcho, J. Strider, D. Carter, L. Taylor-Reinwald, M.S. Forman, and A.M. Goate VCP mutations causing frontotemporal lobar degeneration disrupt localization of TDP-43 and induce cell death Journal of Biological Chemistry 284 2009 12384 12398
16. L. Guyant-Marechal, A. Laquerriere, C. Duyckaerts, C. Dumanchin, J. Bou, and F. Dugny Valosin-containing protein gene mutations: clinical and neuropathologic features Neurology 67 2006 644 651
17. D.S. Haines p97-containing complexes in proliferation control and cancer: emerging culprits or guilt by association? Genes Cancer 1 2010 753 763
18. P. Hänzelmann, and H. Schindelin The structural and functional basis of the p97/valosin-containing protein (VCP)-interacting motif (VIM): mutually exclusive binding of cofactors to the N-terminal domain of p97 Journal of Biological Chemistry 286 2011 38679 38690
19. D. Haubenberger, R.E. Bittner, S. Rauch-Shorny, F. Zimprich, C. Mannhalter, and L. Wagner Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene Neurology 65 2005 1304 1305
20. M. Hetzer, H.H. Meyer, T.C. Walther, D. Bilbao-Cortes, G. Warren, and I.W. Mattaj Distinct AAA-ATPase p97 complexes function in discrete steps of nuclear assembly Nature Cell Biology 3 2001 1086 1091
21. M. Hirabayashi, K. Inoue, K. Tanaka, K. Nakadate, Y. Ohsawa, and Y. Kamei VCP/p97 in abnormal protein aggregates, cytoplasmic vacuoles, and cell death, phenotypes relevant to neurodegeneration Cell Death and Differentiation 8 2001 977 984
22. C.U. Hubbers, C.S. Clemen, K. Kesper, A. Boddrich, A. Hofmann, and O. Kamarainen Pathological consequences of VCP mutations on human striated muscle Brain 130 2007 381 393
23. S. Ishigaki, N. Hishikawa, J. Niwa, S. Iemura, T. Natsume, and S. Hori Physical and functional interaction between Dorfin and Valosin-containing protein that are colocalized in ubiquitylated inclusions in neurodegenerative disorders Journal of Biological Chemistry 279 2004 51376 51385
24. E. Jarosch, C. Taxis, C. Volkwein, J. Bordallo, D. Finley, and D.H. Wolf Protein dislocation from the ER requires polyubiquitination and the AAA-ATPase Cdc48 Nature Cell Biology 4 2002 134 139
25. J.S. Ju, and C.C. Weihl Inclusion body myopathy, Paget's disease of the bone and fronto-temporal dementia: a disorder of autophagy Human Molecular Genetics 19 2010 R38 R45
26. V.E. Kimonis, E. Fulchiero, J. Vesa, and G. Watts VCP disease associated with myopathy, Paget disease of bone and frontotemporal dementia: review of a unique disorder Biochimica et Biophysica Acta 1782 2008 744 748
27. V.E. Kimonis, and G.D. Watts Autosomal dominant inclusion body myopathy, Paget disease of bone, and frontotemporal dementia Alzheimer Disease and Associated Disorders 19 Suppl. 1 2005 S44 S47
28. M.I. Kitami, T. Kitami, M. Nagahama, M. Tagaya, S. Hori, and A. Kakizuka Dominant-negative effect of mutant valosin-containing protein in aggresome formation FEBS Letters 580 2006 474 478
29. M.J. Kovach, B. Waggoner, S.M. Leal, D. Gelber, R. Khardori, and M.A. Levenstien Clinical delineation and localization to chromosome 9p13.3-p12 of a unique dominant disorder in four families: hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia Molecular Genetics and Metabolism 74 2001 458 475
30. K.R. Kumar, M. Needham, K. Mina, M. Davis, J. Brewer, and C. Staples Two Australian families with inclusion-body myopathy, Paget's disease of bone and frontotemporal dementia: novel clinical and genetic findings Neuromuscular Disorders 20 2010 330 334
31. H. Meyer, M. Bug, and S. Bremer Emerging functions of the VCP/p97 AAA-ATPase in the ubiquitin system Nature Cell Biology 14 2012 117 123
32. H.H. Meyer, J.G. Shorter, J. Seemann, D. Pappin, and G. Warren A complex of mammalian ufd1 and npl4 links the AAA-ATPase, p97, to ubiquitin and nuclear transport pathways EMBO Journal 19 2000 2181 2192
33. Y. Mizuno, S. Hori, A. Kakizuka, and K. Okamoto Vacuole-creating protein in neurodegenerative diseases in humans Neuroscience Letters 343 2003 77 80
34. M. Nagahama, M. Suzuki, Y. Hamada, K. Hatsuzawa, K. Tani, and A. Yamamoto SVIP is a novel VCP/p97-interacting protein whose expression causes cell vacuolation Molecular Biology of the Cell 14 2003 262 273
35. J. Palmio, S. Sandell, T. Suominen, S. Penttila, O. Raheem, and P. Hackman Distinct distal myopathy phenotype caused by VCP gene mutation in a Finnish family Neuromuscular Disorders 21 2011 551 555
36. S. Park, R. Isaacson, H.T. Kim, P.A. Silver, and G. Wagner Ufd1 exhibits the AAA-ATPase fold with two distinct ubiquitin interaction sites Structure 13 2005 995 1005
37. D. Pednekar, A. Tendulkar, and S. Durani Electrostatics-defying interaction between arginine termini as a thermodynamic driving force in protein-protein interaction Proteins 74 2009 155 163
38. R. Piccirillo, and A. Goldberg The p97/VCP ATPase is critical in muscle atrophy and the accelerated degradation of muscle proteins EMBO Journal 31 2012 3334 3350
39. V.E. Pye, F. Beuron, C.A. Keetch, C. McKeown, C.V. Robinson, and H.H. Meyer Structural insights into the p97-Ufd1-Npl4 complex Proceedings of the National Academy of Sciences of the United States of America 104 2007 467 472
40. E. Rabinovich, A. Kerem, K.U. Frohlich, N. Diamant, and S. Bar-Nun AAA-ATPase p97/Cdc48p, a cytosolic chaperone required for endoplasmic reticulum-associated protein degradation Molecular and Cellular Biology 22 2002 626 634
41. I. Rouiller, B. DeLaBarre, A.P. May, W.I. Weis, A.T. Brunger, and R.A. Milligan Conformational changes of the multifunction p97 AAA ATPase during its ATPase cycle Natural Structural Biology 9 2002 950 957
42. T. Stojkovic, H. Hammouda el, P. Richard, A.L. de Munain, J. Ruiz-Martinez, and P.C. Gonzalez Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget's disease of bone and frontotemporal dementia Neuromuscular Disorders 19 2009 316 323
43. K. Uchiyama, E. Jokitalo, F. Kano, M. Murata, X. Zhang, and B. Canas VCIP135 a novel essential factor for p97/p47-mediated membrane fusion, is required for Golgi and ER assembly in vivo Journal of Cell Biology 159 2002 855 866
44. K. Uchiyama, E. Jokitalo, M. Lindman, M. Jackman, F. Kano, and M. Murata The localization and phosphorylation of p47 are important for Golgi disassembly-assembly during the cell cycle Journal of Cell Biology 161 2003 1067 1079
45. J. Vondrásek, P.E. Mason, J. Heyda, K.D. Collins, and P. Jungwirth The molecular origin of like-charge arginine-arginine pairing in water Journal of Physical Chemistry B 113 2009 9041 9045
46. Q. Wang, C. Song, and C.C. Li Hexamerization of p97-VCP is promoted by ATP binding to the D1 domain and required for ATPase and biological activities Biochemical and Biophysical Research Communications 300 2003 253 260
47. Q. Wang, C. Song, and C.C. Li Molecular perspectives on p97-VCP: progress in understanding its structure and diverse biological functions Journal of Structural Biology 146 2004 44 57
48. G.D. Watts, D. Thomasova, S.K. Ramdeen, E.C. Fulchiero, S.G. Mehta, and D.A. Drachman Novel VCP mutations in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia Clinical Genetics 72 2007 420 426
49. G.D. Watts, J. Wymer, M.J. Kovach, S.G. Mehta, S. Mumm, and D. Darvish Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein Nature Genetics 36 2004 377 381
50. C.C. Weihl, S. Dalal, A. Pestronk, and P.I. Hanson Inclusion body myopathy-associated mutations in p97/VCP impair endoplasmic reticulum-associated degradation Human Molecular Genetics 15 2006 189 199
51. P.G. Woodman p97, a protein coping with multiple identities Journal of Cell Science 116 2003 4283 4290
52. Y. Ye, H.H. Meyer, and T.A. Rapoport The AAA ATPase Cdc48/p97 and its partners transport proteins from the ER into the cytosol Nature 414 2001 652 656
53. Y. Ye, H.H. Meyer, and T.A. Rapoport Function of the p97-Ufd1-Npl4 complex in retrotranslocation from the ER to the cytosol: dual recognition of nonubiquitinated polypeptide segments and polyubiquitin chains Journal of Cell Biology 162 2003 71 84
54. H.O. Yeung, P. Kloppsteck, H. Niwa, R.L. Isaacson, S. Matthews, and X. Zhang Insights into adaptor binding to the AAA protein p97 Biochemical Society Transactions 36 2008 62 67
55. X. Zhong, Y. Shen, P. Ballar, A. Apostolou, R. Agami, and S. Fang AAA ATPase p97/valosin-containing protein interacts with gp78, a ubiquitin ligase for endoplasmic reticulum-associated degradation Journal of Biological Chemistry 279 2004 45676 45684