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==Relevance to Disease==
==Relevance to Disease==
Mutations in VCP have been linked to inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia (IBMPFD). They may also be linked to familial [[amyotrophic lateral sclerosis]].
Mutations in VCP have been linked to inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia (IBMPFD).<ref name="pmid16199218">{{cite journal | author = Lucas GJ, Mehta SG, Hocking LJ, Stewart TL, Cundy T, Nicholson GC, Walsh JP, Fraser WD, Watts GD, Ralston SH, Kimonis VE | title = Evaluation of the role of Valosin-containing protein in the pathogenesis of familial and sporadic Paget's disease of bone. | journal = Bone | volume = 38 | issue = 2 | pages = 280-5 | year = 2006 | month = Feb | pmid = 16199218 | pmc = | doi = 10.1016/j.bone.2005.07.014}}</ref> They may also be linked to familial [[amyotrophic lateral sclerosis]].


==References==
==References==

Revision as of 21:30, 8 December 2010

Template:PBB Transitional endoplasmic reticulum ATPase is an enzyme that in humans is encoded by the VCP gene.[1][2][3]

Template:PBB Summary

Interactions

Valosin-containing protein has been shown to interact with AMFR,[4][5] SELS,[6][7] BRCA1,[8] NSFL1C,[9] IκBα[10] and Ataxin 3.[11][7]

Relevance to Disease

Mutations in VCP have been linked to inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia (IBMPFD).[12] They may also be linked to familial amyotrophic lateral sclerosis.

References

  1. ^ Druck T, Gu Y, Prabhala G, Cannizzaro LA, Park SH, Huebner K, Keen JH (1996). "Chromosome localization of human genes for clathrin adaptor polypeptides AP2 beta and AP50 and the clathrin-binding protein, VCP". Genomics. 30 (1): 94–7. doi:10.1006/geno.1995.0016. PMID 8595912. {{cite journal}}: Unknown parameter |month= ignored (help)CS1 maint: multiple names: authors list (link)
  2. ^ Rabouille C, Levine TP, Peters JM, Warren G (1995). "An NSF-like ATPase, p97, and NSF mediate cisternal regrowth from mitotic Golgi fragments". Cell. 82 (6): 905–14. doi:10.1016/0092-8674(95)90270-8. PMID 7553851. {{cite journal}}: Unknown parameter |month= ignored (help)CS1 maint: multiple names: authors list (link)
  3. ^ "Entrez Gene: VCP valosin-containing protein".
  4. ^ Zhong, Xiaoyan (2004). "AAA ATPase p97/valosin-containing protein interacts with gp78, a ubiquitin ligase for endoplasmic reticulum-associated degradation". J. Biol. Chem. 279 (44). United States: 45676–84. doi:10.1074/jbc.M409034200. ISSN 0021-9258. PMID 15331598. {{cite journal}}: Check date values in: |year= (help); Cite has empty unknown parameters: |laydate=, |laysummary=, and |laysource= (help); Unknown parameter |coauthors= ignored (|author= suggested) (help); Unknown parameter |month= ignored (help)CS1 maint: unflagged free DOI (link)
  5. ^ Lee, Joon No (2008). "Unsaturated fatty acids inhibit proteasomal degradation of Insig-1 at a postubiquitination step". J. Biol. Chem. 283 (48). United States: 33772–83. doi:10.1074/jbc.M806108200. ISSN 0021-9258. PMC 2586246. PMID 18835813. {{cite journal}}: Check date values in: |year= (help); Cite has empty unknown parameters: |laydate=, |laysummary=, and |laysource= (help); Unknown parameter |coauthors= ignored (|author= suggested) (help); Unknown parameter |month= ignored (help)CS1 maint: unflagged free DOI (link)
  6. ^ Ye, Yihong (2004). "A membrane protein complex mediates retro-translocation from the ER lumen into the cytosol". Nature. 429 (6994). England: 841–7. doi:10.1038/nature02656. PMID 15215856. {{cite journal}}: Check date values in: |year= (help); Cite has empty unknown parameters: |laydate=, |laysummary=, and |laysource= (help); Unknown parameter |coauthors= ignored (|author= suggested) (help); Unknown parameter |month= ignored (help); Unknown parameter |unused_data= ignored (help)
  7. ^ a b Wang, Qiuyan (2008). "Inhibition of p97-dependent protein degradation by Eeyarestatin I". J. Biol. Chem. 283 (12). United States: 7445–54. doi:10.1074/jbc.M708347200. ISSN 0021-9258. PMC 2276333. PMID 18199748. {{cite journal}}: Check date values in: |year= (help); Cite has empty unknown parameters: |laydate=, |laysummary=, and |laysource= (help); Unknown parameter |coauthors= ignored (|author= suggested) (help); Unknown parameter |month= ignored (help)CS1 maint: unflagged free DOI (link)
  8. ^ Zhang, H (2000). "VCP, a weak ATPase involved in multiple cellular events, interacts physically with BRCA1 in the nucleus of living cells". DNA Cell Biol. 19 (5). UNITED STATES: 253–63. doi:10.1089/10445490050021168. ISSN 1044-5498. PMID 10855792. {{cite journal}}: Check date values in: |year= (help); Cite has empty unknown parameters: |laydate=, |laysummary=, and |laysource= (help); Unknown parameter |coauthors= ignored (|author= suggested) (help); Unknown parameter |month= ignored (help)
  9. ^ Uchiyama, Keiji (2003). "The localization and phosphorylation of p47 are important for Golgi disassembly-assembly during the cell cycle". J. Cell Biol. 161 (6). United States: 1067–79. doi:10.1083/jcb.200303048. ISSN 0021-9525. PMC 2173005. PMID 12810701. {{cite journal}}: Check date values in: |year= (help); Cite has empty unknown parameters: |laydate=, |laysummary=, and |laysource= (help); Unknown parameter |coauthors= ignored (|author= suggested) (help); Unknown parameter |month= ignored (help)
  10. ^ Dai, R M (1998). "Involvement of valosin-containing protein, an ATPase Co-purified with IkappaBalpha and 26 S proteasome, in ubiquitin-proteasome-mediated degradation of IkappaBalpha". J. Biol. Chem. 273 (6). UNITED STATES: 3562–73. doi:10.1074/jbc.273.6.3562. ISSN 0021-9258. PMID 9452483. {{cite journal}}: Check date values in: |year= (help); Cite has empty unknown parameters: |laydate=, |laysummary=, and |laysource= (help); Unknown parameter |coauthors= ignored (|author= suggested) (help); Unknown parameter |month= ignored (help)CS1 maint: unflagged free DOI (link)
  11. ^ Doss-Pepe, Ellen W (2003). "Ataxin-3 interactions with rad23 and valosin-containing protein and its associations with ubiquitin chains and the proteasome are consistent with a role in ubiquitin-mediated proteolysis". Mol. Cell. Biol. 23 (18). United States: 6469–83. doi:10.1128/MCB.23.18.6469-6483.2003. ISSN 0270-7306. PMC 193705. PMID 12944474. {{cite journal}}: Check date values in: |year= (help); Cite has empty unknown parameters: |laydate=, |laysummary=, and |laysource= (help); Unknown parameter |coauthors= ignored (|author= suggested) (help); Unknown parameter |month= ignored (help)
  12. ^ Lucas GJ, Mehta SG, Hocking LJ, Stewart TL, Cundy T, Nicholson GC, Walsh JP, Fraser WD, Watts GD, Ralston SH, Kimonis VE (2006). "Evaluation of the role of Valosin-containing protein in the pathogenesis of familial and sporadic Paget's disease of bone". Bone. 38 (2): 280–5. doi:10.1016/j.bone.2005.07.014. PMID 16199218. {{cite journal}}: Unknown parameter |month= ignored (help)CS1 maint: multiple names: authors list (link)

External links

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