UBQLN1

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Ubiquilin 1
Identifiers
Symbol(s) UBQLN1; DA41; DSK2; FLJ90054; PLIC-1; XDRP1
External IDs OMIM: 605046 MGI: 1860276 HomoloGene: 40881
Orthologs
Human Mouse
Entrez 29979 56085
Ensembl ENSG00000135018 ENSMUSG00000005312
Uniprot Q9UMX0 Q66K07
Refseq NM_013438 (mRNA)
NP_038466 (protein)		 NM_026842 (mRNA)
NP_081118 (protein)
Location Chr 9: 85.46 - 85.51 Mb Chr 13: 58.19 - 58.23 Mb
Pubmed search [1] [2]

Ubiquilin 1, also known as UBQLN1, is a human gene.[1]

This gene encodes an ubiquitin-like protein (ubiquilin) that shares high degree of similarity with related products in yeast, rat and frog. Ubiquilins contain a N-terminal ubiquitin-like domain and a C-terminal ubiquitin-associated domain. They physically associate with both proteasomes and ubiquitin ligases, and thus are thought to functionally link the ubiquitination machinery to the proteasome to affect in vivo protein degradation. This ubiquilin has also been shown to modulate accumulation of presenilin proteins, and is found in lesions associated with Alzheimer's and Parkinson's disease. Two transcript variants encoding different isoforms have been found for this gene.[1]

[edit] References

  1. ^ a b Entrez Gene: UBQLN1 ubiquilin 1.

[edit] Further reading

  • Ozaki T, Kondo K, Nakamura Y, et al. (1997). "Interaction of DA41, a DAN-binding protein, with the epidermal growth factor-like protein, S(1-5).". Biochem. Biophys. Res. Commun. 237 (2): 245–50. doi:10.1006/bbrc.1997.7122. PMID 9268694. 
  • Ozaki T, Hishiki T, Toyama Y, et al. (1997). "Identification of a new cellular protein that can interact specifically with DAN.". DNA Cell Biol. 16 (8): 985–91. PMID 9303440. 
  • Ozaki T, Hanaoka E, Naka M, et al. (1999). "Cloning and characterization of rat BAT3 cDNA.". DNA Cell Biol. 18 (6): 503–12. doi:10.1089/104454999315222. PMID 10390159. 
  • Wu AL, Wang J, Zheleznyak A, Brown EJ (1999). "Ubiquitin-related proteins regulate interaction of vimentin intermediate filaments with the plasma membrane.". Mol. Cell 4 (4): 619–25. PMID 10549293. 
  • Hanaoka E, Ozaki T, Ohira M, et al. (2000). "Molecular cloning and expression analysis of the human DA41 gene and its mapping to chromosome 9q21.2-q21.3.". J. Hum. Genet. 45 (3): 188–91. PMID 10807547. 
  • Kleijnen MF, Shih AH, Zhou P, et al. (2000). "The hPLIC proteins may provide a link between the ubiquitination machinery and the proteasome.". Mol. Cell 6 (2): 409–19. PMID 10983987. 
  • Mah AL, Perry G, Smith MA, Monteiro MJ (2000). "Identification of ubiquilin, a novel presenilin interactor that increases presenilin protein accumulation.". J. Cell Biol. 151 (4): 847–62. PMID 11076969. 
  • Wiemann S, Weil B, Wellenreuther R, et al. (2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.". Genome Res. 11 (3): 422–35. doi:10.1101/gr.154701. PMID 11230166. 
  • Simpson JC, Wellenreuther R, Poustka A, et al. (2001). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing.". EMBO Rep. 1 (3): 287–92. doi:10.1093/embo-reports/kvd058. PMID 11256614. 
  • Bedford FK, Kittler JT, Muller E, et al. (2001). "GABA(A) receptor cell surface number and subunit stability are regulated by the ubiquitin-like protein Plic-1.". Nat. Neurosci. 4 (9): 908–16. doi:10.1038/nn0901-908. PMID 11528422. 
  • Wu S, Mikhailov A, Kallo-Hosein H, et al. (2002). "Characterization of ubiquilin 1, an mTOR-interacting protein.". Biochim. Biophys. Acta 1542 (1-3): 41–56. PMID 11853878. 
  • Ko HS, Uehara T, Nomura Y (2002). "Role of ubiquilin associated with protein-disulfide isomerase in the endoplasmic reticulum in stress-induced apoptotic cell death.". J. Biol. Chem. 277 (38): 35386–92. doi:10.1074/jbc.M203412200. PMID 12095988. 
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932. 
  • Gao L, Tu H, Shi ST, et al. (2003). "Interaction with a ubiquitin-like protein enhances the ubiquitination and degradation of hepatitis C virus RNA-dependent RNA polymerase.". J. Virol. 77 (7): 4149–59. PMID 12634373. 
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039. 
  • Massey LK, Mah AL, Ford DL, et al. (2004). "Overexpression of ubiquilin decreases ubiquitination and degradation of presenilin proteins.". J. Alzheimers Dis. 6 (1): 79–92. PMID 15004330. 
  • Colland F, Jacq X, Trouplin V, et al. (2004). "Functional proteomics mapping of a human signaling pathway.". Genome Res. 14 (7): 1324–32. doi:10.1101/gr.2334104. PMID 15231748. 
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334. 
  • Persson P, Stockhausen MT, Påhlman S, Axelson H (2005). "Ubiquilin-1 is a novel HASH-1-complexing protein that regulates levels of neuronal bHLH transcription factors in human neuroblastoma cells.". Int. J. Oncol. 25 (5): 1213–21. PMID 15492808. 
  • Bertram L, Hiltunen M, Parkinson M, et al. (2005). "Family-based association between Alzheimer's disease and variants in UBQLN1.". N. Engl. J. Med. 352 (9): 884–94. doi:10.1056/NEJMoa042765. PMID 15745979. 
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