LEMin nuclear membrane-associated proteins |
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| SMART accession number: | SM00540
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| Description: |
LEM, domain in nuclear membrane-associated proteins, including lamino-associated polypeptide 2 and emerin. |
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| Interpro abstract (IPR003887): |
The LEM domain is found in nuclear membrane-associated proteins, including lamino-associated polypeptide 2 and emerin [(PUBMED:11792821)]. Defects in the emerin gene are a cause of Emery-Dreifuss muscular dystrophy, an X-linked disorder characterised by early contractures, muscle wasting, weakness and cardiomyopathy.
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| GO component: | nuclear envelope (GO:0005635) |
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| Family alignment: |
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There are 149
LEM domains in 144 proteins in SMART's nrdb database.
Click on the following links for more information.
- Evolution (species in which this domain is found)
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- Literature (relevant references for this domain)
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Primary literature is listed below; Automatically-derived, secondary literature is also avaliable.
- Lin F et al.
- MAN1, an inner nuclear membrane protein that shares the LEM domain with lamina-associated polypeptide 2 and emerin.
- J Biol Chem. 2000; 275: 4840-7
- Display abstract
The "MAN antigens" are polypeptides recognized by autoantibodies from a patient with a collagen vascular disease and localized to the nuclear envelope. We now show that one of the human MAN antigens termed MAN1 is a 82.3-kDa protein with an amino-terminal domain followed by two hydrophobic segments and a carboxyl-terminal tail. The MAN1 gene contains seven protein-coding exons and is assigned to human chromosome 12q14. Its mRNA is approximately 5.5 kilobases and is detected in several different cell types that were examined. Cell extraction experiments show that MAN1 is an integral membrane protein. When expressed in transfected cells, MAN1 is exclusively targeted to the nuclear envelope, consistent with an inner nuclear membrane localization. Protein sequence analysis reveals that MAN1 shares a conserved globular domain of approximately 40 amino acids, which we term the LEM module, with inner nuclear membrane proteins lamina-associated polypeptide 2 and emerin. The LEM module is also present in two proteins of Caenorhabditis elegans. These results show that MAN1 is an integral protein of the inner nuclear membrane that shares the LEM module with other proteins of this subcellular localization.
- Bione S et al.
- Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy.
- Nat Genet. 1994; 8: 323-7
- Display abstract
Emery-Dreifuss muscular dystrophy (EDMD) is an X-linked recessive disorder characterized by slowly progressing contractures, wasting of skeletal muscle and cardiomyopathy. Heart block is a frequent cause of death. The disease gene has been mapped to distal Xq28. Among many genes in this region, we selected eight transcripts expressed at high levels in skeletal muscle, heart and/or brain as the best candidates for the disease. We now report, in all five patients studied, unique mutations in one of the genes, STA: these mutations result in the loss of all or part of the protein. The EDMD gene encodes a novel serine-rich protein termed emerin, which contains a 20 amino acid hydrophobic domain at the C terminus, similar to that described for many membrane proteins of the secretory pathway involved in vesicular transport.
- Structure (3D structures containing this domain)
3D Structures of LEM domains in PDB
| PDB code | Main view | Title | | 1gjj |  | N-terminal constant region of the nuclear envelope protein lap2 |
| 1h9f |  | Lem domain of human inner nuclear membrane protein lap2 |
| 1jei |  | Lem domain of human inner nuclear membrane protein emerin |
| 2odc |  | Lem-domain of the nuclear envelope protein emerin |
| 2odg |  | Complex of barrier-to-autointegration factor and lem-domain of emerin |
- Links (links to other resources describing this domain)
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