| http://purl.uniprot.org/citations/21498514 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/21498514 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/21498514 | http://www.w3.org/2000/01/rdf-schema#comment | "Mutations in the A-type lamin (LMNA) gene are associated with age-associated degenerative disorders of mesenchymal tissues, such as dilated cardiomyopathy, Emery-Dreifuss muscular dystrophy, and limb-girdle muscular dystrophy. The molecular mechanisms that connect mutations in LMNA with different human diseases are poorly understood. Here, we report the identification of a Muscle-enriched A-type Lamin-interacting Protein, MLIP (C6orf142 and 2310046A06rik), a unique single copy gene that is an innovation of amniotes (reptiles, birds, and mammals). MLIP encodes alternatively spliced variants (23-57 kDa) and possesses several novel structural motifs not found in other proteins. MLIP is expressed ubiquitously and most abundantly in heart, skeletal, and smooth muscle. MLIP interacts directly and co-localizes with lamin A and C in the nuclear envelope. MLIP also co-localizes with promyelocytic leukemia (PML) bodies within the nucleus. PML, like MLIP, is only found in amniotes, suggesting that a functional link between the nuclear envelope and PML bodies may exist through MLIP. Down-regulation of lamin A/C expression by shRNA results in the up-regulation and mislocalization of MLIP. Given that MLIP is expressed most highly in striated and smooth muscle, it is likely to contribute to the mesenchymal phenotypes of laminopathies."xsd:string |
| http://purl.uniprot.org/citations/21498514 | http://purl.org/dc/terms/identifier | "doi:10.1074/jbc.m110.165548"xsd:string |
| http://purl.uniprot.org/citations/21498514 | http://purl.org/dc/terms/identifier | "doi:10.1074/jbc.m110.165548"xsd:string |
| http://purl.uniprot.org/citations/21498514 | http://purl.uniprot.org/core/author | "Burgon P.G."xsd:string |
| http://purl.uniprot.org/citations/21498514 | http://purl.uniprot.org/core/author | "Burgon P.G."xsd:string |
| http://purl.uniprot.org/citations/21498514 | http://purl.uniprot.org/core/author | "Stewart A.F."xsd:string |
| http://purl.uniprot.org/citations/21498514 | http://purl.uniprot.org/core/author | "Stewart A.F."xsd:string |
| http://purl.uniprot.org/citations/21498514 | http://purl.uniprot.org/core/author | "Deeke S.A."xsd:string |
| http://purl.uniprot.org/citations/21498514 | http://purl.uniprot.org/core/author | "Deeke S.A."xsd:string |
| http://purl.uniprot.org/citations/21498514 | http://purl.uniprot.org/core/author | "Ahmady E."xsd:string |
| http://purl.uniprot.org/citations/21498514 | http://purl.uniprot.org/core/author | "Ahmady E."xsd:string |
| http://purl.uniprot.org/citations/21498514 | http://purl.uniprot.org/core/author | "Kenney L."xsd:string |
| http://purl.uniprot.org/citations/21498514 | http://purl.uniprot.org/core/author | "Kenney L."xsd:string |
| http://purl.uniprot.org/citations/21498514 | http://purl.uniprot.org/core/author | "Kouri L."xsd:string |
| http://purl.uniprot.org/citations/21498514 | http://purl.uniprot.org/core/author | "Kouri L."xsd:string |
| http://purl.uniprot.org/citations/21498514 | http://purl.uniprot.org/core/author | "Rabaa S."xsd:string |
| http://purl.uniprot.org/citations/21498514 | http://purl.uniprot.org/core/author | "Rabaa S."xsd:string |
| http://purl.uniprot.org/citations/21498514 | http://purl.uniprot.org/core/date | "2011"xsd:gYear |
| http://purl.uniprot.org/citations/21498514 | http://purl.uniprot.org/core/date | "2011"xsd:gYear |
| http://purl.uniprot.org/citations/21498514 | http://purl.uniprot.org/core/name | "J. Biol. Chem."xsd:string |
| http://purl.uniprot.org/citations/21498514 | http://purl.uniprot.org/core/name | "J. Biol. Chem."xsd:string |
| http://purl.uniprot.org/citations/21498514 | http://purl.uniprot.org/core/pages | "19702-19713"xsd:string |
| http://purl.uniprot.org/citations/21498514 | http://purl.uniprot.org/core/pages | "19702-19713"xsd:string |