| Emerin (Emery-Dreifuss muscular dystrophy)
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| PDB rendering based on 1jei.
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| Available structures: 1jei, 2odc, 2odg
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| Identifiers
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| Symbol(s)
| EMD; EDMD; STA
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| External IDs
| OMIM: 300384 MGI: 108117 Homologene: 91
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| Gene Ontology
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| Molecular Function:
| • protein binding
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| Cellular Component:
| • nucleus
• nuclear envelope
• membrane
• integral to membrane
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| Biological Process:
| • muscle contraction
• muscle development
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| RNA expression pattern
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Additional recommended knowledge
More reference expression data
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| Orthologs
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| Human
| Mouse
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| Entrez
| 2010
| 13726
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| Ensembl
| ENSG00000102119
| ENSMUSG00000001964
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| Uniprot
| P50402
| Q3TIH6
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| Refseq
| NM_000117 (mRNA)
NP_000108 (protein)
| NM_007927 (mRNA)
NP_031953 (protein)
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| Location
| Chr X: 153.26 - 153.26 Mb
| Chr X: 70.51 - 70.51 Mb
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| Pubmed search
| [1]
| [2]
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Emerin, together with MAN1, is a LEM domain-containing integral membrane protein of the nuclear envelope 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.
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.[1]
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[2].
References
- ^ Entrez Gene: EMD emerin (Emery-Dreifuss muscular dystrophy).
- ^ Jacque JM, Stevenson M.: "The inner-nuclear-envelope protein emerin regulates HIV-1 infectivity.", Nature., 2006 Jun 1;441(7093):581-2.
Further reading
- Gant TM, Wilson KL (1998). "Nuclear assembly.". Annu. Rev. Cell Dev. Biol. 13: 669-95. doi:10.1146/annurev.cellbio.13.1.669. PMID 9442884.
- Helbling-Leclerc A, Bonne G, Schwartz K (2002). "Emery-Dreifuss muscular dystrophy.". Eur. J. Hum. Genet. 10 (3): 157-61. doi:10.1038/sj.ejhg.5200744. PMID 11973618.
- Holaska JM, Wilson KL (2006). "Multiple roles for emerin: implications for Emery-Dreifuss muscular dystrophy.". The anatomical record. Part A, Discoveries in molecular, cellular, and evolutionary biology 288 (7): 676-80. doi:10.1002/ar.a.20334. PMID 16761279.
- Bione S, Maestrini E, Rivella S, et al. (1995). "Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy.". Nat. Genet. 8 (4): 323-7. doi:10.1038/ng1294-323. PMID 7894480.
- Bione S, Tamanini F, Maestrini E, et al. (1994). "Transcriptional organization of a 450-kb region of the human X chromosome in Xq28.". Proc. Natl. Acad. Sci. U.S.A. 90 (23): 10977-81. PMID 8248200.
- Nagano A, Koga R, Ogawa M, et al. (1996). "Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy.". Nat. Genet. 12 (3): 254-9. doi:10.1038/ng0396-254. PMID 8589715.
- Bione S, Small K, Aksmanovic VM, et al. (1996). "Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease.". Hum. Mol. Genet. 4 (10): 1859-63. PMID 8595407.
- Yamada T, Kobayashi T (1996). "A novel emerin mutation in a Japanese patient with Emery-Dreifuss muscular dystrophy.". Hum. Genet. 97 (5): 693-4. PMID 8655156.
- Chen EY, Zollo M, Mazzarella R, et al. (1997). "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.". Hum. Mol. Genet. 5 (5): 659-68. PMID 8733135.
- Cartegni L, di Barletta MR, Barresi R, et al. (1998). "Heart-specific localization of emerin: new insights into Emery-Dreifuss muscular dystrophy.". Hum. Mol. Genet. 6 (13): 2257-64. PMID 9361031.
- Ellis JA, Craxton M, Yates JR, Kendrick-Jones J (1998). "Aberrant intracellular targeting and cell cycle-dependent phosphorylation of emerin contribute to the Emery-Dreifuss muscular dystrophy phenotype.". J. Cell. Sci. 111 ( Pt 6): 781-92. PMID 9472006.
- Squarzoni S, Sabatelli P, Ognibene A, et al. (1998). "Immunocytochemical detection of emerin within the nuclear matrix.". Neuromuscul. Disord. 8 (5): 338-44. PMID 9673989.
- Ellis JA, Yates JR, Kendrick-Jones J, Brown CA (1999). "Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy.". Hum. Genet. 104 (3): 262-8. PMID 10323252.
- Clements L, Manilal S, Love DR, Morris GE (2000). "Direct interaction between emerin and lamin A.". Biochem. Biophys. Res. Commun. 267 (3): 709-14. doi:10.1006/bbrc.1999.2023. PMID 10673356.
- Squarzoni S, Sabatelli P, Capanni C, et al. (2001). "Emerin presence in platelets.". Acta Neuropathol. 100 (3): 291-8. PMID 10965799.
- Martins SB, Eide T, Steen RL, et al. (2001). "HA95 is a protein of the chromatin and nuclear matrix regulating nuclear envelope dynamics.". J. Cell. Sci. 113 Pt 21: 3703-13. PMID 11034899.
- Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination.". Genome Res. 10 (11): 1788-95. PMID 11076863.
- Sakaki M, Koike H, Takahashi N, et al. (2001). "Interaction between emerin and nuclear lamins.". J. Biochem. 129 (2): 321-7. PMID 11173535.
- Laguri C, Gilquin B, Wolff N, et al. (2001). "Structural characterization of the LEM motif common to three human inner nuclear membrane proteins.". Structure 9 (6): 503-11. PMID 11435115.
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