3V4Q

Structure of R335W mutant of human Lamin

3V4Q の概要

• エントリーDOI: 10.2210/pdb3v4q/pdb
• 関連するPDBエントリー: 3V1G
• 分子名称: Prelamin-A/C (1 entity in total)
• 機能のキーワード: structural protein
• 由来する生物種: Homo sapiens (human)
• タンパク質・核酸の鎖数: 1
• 化学式量合計: 8934.16

構造登録者

Bollati, M.,Bolognesi, M. (登録日: 2011-12-15, 公開日: 2012-02-29, 最終更新日: 2024-02-28)

主引用文献

Bollati, M.,Barbiroli, A.,Favalli, V.,Arbustini, E.,Charron, P.,Bolognesi, M.
Structures of the lamin A/C R335W and E347K mutants: Implications for dilated cardiolaminopathies.
Biochem.Biophys.Res.Commun., 418:217-221, 2012

PubMed Abstract: Dilated cardiomyopathy (DCM) is a condition whereby the normal muscular function of the myocardium is altered by specific or multiple aetiologies. About 25-35% of DCM patients show familial forms of the disease, with most mutations affecting genes encoding cytoskeletal proteins. Most of the DCM-related mutations fall in the Lamin AC gene, in particular in the Coil2B domain of the encoded protein. In this context, we focussed our studies on the crystal structures of two lamin Coil2B domain mutants (R335W and E347K). Both R335 and E347 are higly conserved residues whose substitution has little effects on the Coil2B domain three-dimensional structure; we can thus hypothesize that the mutations may interfere with the binding of components within the nuclear lamina, or of nuclear factors, that have been proposed to interact/associate with lamin A/C.

PubMed: 22266370
DOI: 10.1016/j.bbrc.2011.12.136

実験手法

X-RAY DIFFRACTION (3.06 Å)