Emerin


Emerin

Emerin, together with MAN1, is a LEM domain-containing integral membrane protein of the nuclear membrane in vertebrates. The function of MAN1 is not extensively known, but emerin is known to interact with nuclear lamins, barrier-to-autointegration factor (BAF), nesprin-1alpha , and a transcription repressor.

PBB_Summary
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summary_text = Emerin is a serine-rich nuclear membrane protein and a member of the nuclear lamina-associated protein family. It mediates membrane anchorage to the cytoskeleton. Dreifuss-Emery muscular dystrophy is an X-linked inherited degenerative myopathy resulting from mutation in the emerin gene.cite web | title = Entrez Gene: EMD emerin (Emery-Dreifuss muscular dystrophy)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2010| accessdate = ]

Clinical significance

Mutations in emerin cause X-linked recessive Emery-Dreifuss muscular dystrophy.

Moreover, recent research have found that the absence of functional emerin may decrease the infectivity of HIV-1. Thus, it is speculated that patients suffering from Emery-Dreifuss muscular dystrophy may have immunity to or show an irregular infection pattern to HIV-1 [Jacque JM, Stevenson M.: "The inner-nuclear-envelope protein emerin regulates HIV-1 infectivity.", "Nature.", 2006 Jun 1;441(7093):581-2.] .

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Gant TM, Wilson KL |title=Nuclear assembly. |journal=Annu. Rev. Cell Dev. Biol. |volume=13 |issue= |pages= 669–95 |year= 1998 |pmid= 9442884 |doi= 10.1146/annurev.cellbio.13.1.669
*cite journal | author=Helbling-Leclerc A, Bonne G, Schwartz K |title=Emery-Dreifuss muscular dystrophy. |journal=Eur. J. Hum. Genet. |volume=10 |issue= 3 |pages= 157–61 |year= 2002 |pmid= 11973618 |doi= 10.1038/sj.ejhg.5200744
*cite journal | author=Holaska JM, Wilson KL |title=Multiple roles for emerin: implications for Emery-Dreifuss muscular dystrophy. |journal=The anatomical record. Part A, Discoveries in molecular, cellular, and evolutionary biology |volume=288 |issue= 7 |pages= 676–80 |year= 2006 |pmid= 16761279 |doi= 10.1002/ar.a.20334
*cite journal | author=Bione S, Maestrini E, Rivella S, "et al." |title=Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. |journal=Nat. Genet. |volume=8 |issue= 4 |pages= 323–7 |year= 1995 |pmid= 7894480 |doi= 10.1038/ng1294-323
*cite journal | author=Bione S, Tamanini F, Maestrini E, "et al." |title=Transcriptional organization of a 450-kb region of the human X chromosome in Xq28. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=90 |issue= 23 |pages= 10977–81 |year= 1994 |pmid= 8248200 |doi=
*cite journal | author=Nagano A, Koga R, Ogawa M, "et al." |title=Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy. |journal=Nat. Genet. |volume=12 |issue= 3 |pages= 254–9 |year= 1996 |pmid= 8589715 |doi= 10.1038/ng0396-254
*cite journal | author=Bione S, Small K, Aksmanovic VM, "et al." |title=Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease. |journal=Hum. Mol. Genet. |volume=4 |issue= 10 |pages= 1859–63 |year= 1996 |pmid= 8595407 |doi=
*cite journal | author=Yamada T, Kobayashi T |title=A novel emerin mutation in a Japanese patient with Emery-Dreifuss muscular dystrophy. |journal=Hum. Genet. |volume=97 |issue= 5 |pages= 693–4 |year= 1996 |pmid= 8655156 |doi=
*cite journal | author=Chen EY, Zollo M, Mazzarella R, "et al." |title=Long-range sequence analysis in Xq28: thirteen known and six candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and G6PD loci. |journal=Hum. Mol. Genet. |volume=5 |issue= 5 |pages= 659–68 |year= 1997 |pmid= 8733135 |doi=
*cite journal | author=Cartegni L, di Barletta MR, Barresi R, "et al." |title=Heart-specific localization of emerin: new insights into Emery-Dreifuss muscular dystrophy. |journal=Hum. Mol. Genet. |volume=6 |issue= 13 |pages= 2257–64 |year= 1998 |pmid= 9361031 |doi=
*cite journal | author=Ellis JA, Craxton M, Yates JR, Kendrick-Jones J |title=Aberrant intracellular targeting and cell cycle-dependent phosphorylation of emerin contribute to the Emery-Dreifuss muscular dystrophy phenotype. |journal=J. Cell. Sci. |volume=111 ( Pt 6) |issue= |pages= 781–92 |year= 1998 |pmid= 9472006 |doi=
*cite journal | author=Squarzoni S, Sabatelli P, Ognibene A, "et al." |title=Immunocytochemical detection of emerin within the nuclear matrix. |journal=Neuromuscul. Disord. |volume=8 |issue= 5 |pages= 338–44 |year= 1998 |pmid= 9673989 |doi=
*cite journal | author=Ellis JA, Yates JR, Kendrick-Jones J, Brown CA |title=Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy. |journal=Hum. Genet. |volume=104 |issue= 3 |pages= 262–8 |year= 1999 |pmid= 10323252 |doi=
*cite journal | author=Clements L, Manilal S, Love DR, Morris GE |title=Direct interaction between emerin and lamin A. |journal=Biochem. Biophys. Res. Commun. |volume=267 |issue= 3 |pages= 709–14 |year= 2000 |pmid= 10673356 |doi= 10.1006/bbrc.1999.2023
*cite journal | author=Squarzoni S, Sabatelli P, Capanni C, "et al." |title=Emerin presence in platelets. |journal=Acta Neuropathol. |volume=100 |issue= 3 |pages= 291–8 |year= 2001 |pmid= 10965799 |doi=
*cite journal | author=Martins SB, Eide T, Steen RL, "et al." |title=HA95 is a protein of the chromatin and nuclear matrix regulating nuclear envelope dynamics. |journal=J. Cell. Sci. |volume=113 Pt 21 |issue= |pages= 3703–13 |year= 2001 |pmid= 11034899 |doi=
*cite journal | author=Hartley JL, Temple GF, Brasch MA |title=DNA cloning using in vitro site-specific recombination. |journal=Genome Res. |volume=10 |issue= 11 |pages= 1788–95 |year= 2001 |pmid= 11076863 |doi=
*cite journal | author=Sakaki M, Koike H, Takahashi N, "et al." |title=Interaction between emerin and nuclear lamins. |journal=J. Biochem. |volume=129 |issue= 2 |pages= 321–7 |year= 2001 |pmid= 11173535 |doi=
*cite journal | author=Laguri C, Gilquin B, Wolff N, "et al." |title=Structural characterization of the LEM motif common to three human inner nuclear membrane proteins. |journal=Structure |volume=9 |issue= 6 |pages= 503–11 |year= 2001 |pmid= 11435115 |doi=

External links

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