1gjj
From Proteopedia
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{{STRUCTURE_1gjj| PDB=1gjj | SCENE= }} | {{STRUCTURE_1gjj| PDB=1gjj | SCENE= }} | ||
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===N-TERMINAL CONSTANT REGION OF THE NUCLEAR ENVELOPE PROTEIN LAP2=== | ===N-TERMINAL CONSTANT REGION OF THE NUCLEAR ENVELOPE PROTEIN LAP2=== | ||
| + | {{ABSTRACT_PUBMED_11500367}} | ||
| - | + | ==Disease== | |
| + | [[http://www.uniprot.org/uniprot/LAP2A_HUMAN LAP2A_HUMAN]] Defects in TMPO are the cause of cardiomyopathy dilated type 1T (CMD1T) [MIM:[http://omim.org/entry/613740 613740]]. A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.<ref>PMID:16247757</ref> | ||
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| + | ==Function== | ||
| + | [[http://www.uniprot.org/uniprot/LAP2A_HUMAN LAP2A_HUMAN]] May be involved in the structural organization of the nucleus and in the post-mitotic nuclear assembly. Plays an important role, together with LMNA, in the nuclear anchorage of RB1. TP and TP5 may play a role in T-cell development and function. TP5 is an immunomodulating pentapeptide. | ||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
| - | <ref group="xtra">PMID:011500367</ref><references group="xtra"/> | + | <ref group="xtra">PMID:011500367</ref><references group="xtra"/><references/> |
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Cai, M.]] | [[Category: Cai, M.]] | ||
Revision as of 17:53, 24 March 2013
Contents |
N-TERMINAL CONSTANT REGION OF THE NUCLEAR ENVELOPE PROTEIN LAP2
Template:ABSTRACT PUBMED 11500367
Disease
[LAP2A_HUMAN] Defects in TMPO are the cause of cardiomyopathy dilated type 1T (CMD1T) [MIM:613740]. A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.[1]
Function
[LAP2A_HUMAN] May be involved in the structural organization of the nucleus and in the post-mitotic nuclear assembly. Plays an important role, together with LMNA, in the nuclear anchorage of RB1. TP and TP5 may play a role in T-cell development and function. TP5 is an immunomodulating pentapeptide.
About this Structure
1gjj is a 1 chain structure with sequence from Homo sapiens. Full experimental information is available from OCA.
Reference
- Cai M, Huang Y, Ghirlando R, Wilson KL, Craigie R, Clore GM. Solution structure of the constant region of nuclear envelope protein LAP2 reveals two LEM-domain structures: one binds BAF and the other binds DNA. EMBO J. 2001 Aug 15;20(16):4399-407. PMID:11500367 doi:http://dx.doi.org/10.1093/emboj/20.16.4399
- ↑ Taylor MR, Slavov D, Gajewski A, Vlcek S, Ku L, Fain PR, Carniel E, Di Lenarda A, Sinagra G, Boucek MM, Cavanaugh J, Graw SL, Ruegg P, Feiger J, Zhu X, Ferguson DA, Bristow MR, Gotzmann J, Foisner R, Mestroni L. Thymopoietin (lamina-associated polypeptide 2) gene mutation associated with dilated cardiomyopathy. Hum Mutat. 2005 Dec;26(6):566-74. PMID:16247757 doi:10.1002/humu.20250
