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PMID:15767459
| Citation |
Goodchild, RE and Dauer, WT (2005) The AAA+ protein torsinA interacts with a conserved domain present in LAP1 and a novel ER protein. J. Cell Biol. 168:855-62 |
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| Abstract |
A glutamic acid deletion (DeltaE) in the AAA+ protein torsinA causes DYT1 dystonia. Although the majority of torsinA resides within the endoplasmic reticulum (ER), torsinA binds a substrate in the lumen of the nuclear envelope (NE), and the DeltaE mutation enhances this interaction. Using a novel cell-based screen, we identify lamina-associated polypeptide 1 (LAP1) as a torsinA-interacting protein. LAP1 may be a torsinA substrate, as expression of the isolated lumenal domain of LAP1 inhibits the NE localization of "substrate trap" EQ-torsinA and EQ-torsinA coimmunoprecipitates with LAP1 to a greater extent than wild-type torsinA. Furthermore, we identify a novel transmembrane protein, lumenal domain like LAP1 (LULL1), which also appears to interact with torsinA. Interestingly, LULL1 resides in the main ER. Consequently, torsinA interacts directly or indirectly with a novel class of transmembrane proteins that are localized in different subdomains of the ER system, either or both of which may play a role in the pathogenesis of DYT1 dystonia. |
| Links |
PubMed PMC2171781 Online version:10.1083/jcb.200411026 |
| Keywords |
Amino Acid Sequence; Animals; Carrier Proteins/metabolism; Cell Line; Conserved Sequence; Cricetinae; Endoplasmic Reticulum/chemistry; Endoplasmic Reticulum/metabolism; Fluorescence Recovery After Photobleaching; Green Fluorescent Proteins/metabolism; HSC70 Heat-Shock Proteins; HSP70 Heat-Shock Proteins/chemistry; HSP70 Heat-Shock Proteins/genetics; HSP70 Heat-Shock Proteins/metabolism; HeLa Cells; Humans; Kinetics; Membrane Proteins/metabolism; Mice; Microscopy, Confocal; Molecular Chaperones/metabolism; Molecular Sequence Data; Mutation; NIH 3T3 Cells; Nuclear Envelope/metabolism; Precipitin Tests; Protein Structure, Tertiary; Proteins/metabolism; Reverse Transcriptase Polymerase Chain Reaction; Sequence Deletion; Sequence Homology, Amino Acid; Transfection |
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Significance
Annotations
| Gene product | Qualifier | GO ID | GO term name | Evidence Code | with/from | Aspect | Notes | Status |
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