4CAI

Structure of inner DysF domain of human dysferlin

4CAI の概要

• エントリーDOI: 10.2210/pdb4cai/pdb
• 関連するPDBエントリー: 4CAH
• 分子名称: DYSFERLIN, PHOSPHATE ION (3 entities in total)
• 機能のキーワード: membrane protein, membrane repair, limb-girdle muscular dystrophy, dysf domain
• 由来する生物種: HOMO SAPIENS (HUMAN)
• 細胞内の位置: Cell membrane, sarcolemma; Single-pass type II membrane protein: O75923
• タンパク質・核酸の鎖数: 3
• 化学式量合計: 41094.35

構造登録者

Sula, A.,Cole, A.R.,Yeats, C.,Orengo, C.,Keep, N.H. (登録日: 2013-10-08, 公開日: 2014-01-29, 最終更新日: 2023-12-20)

主引用文献

Sula, A.,Cole, A.R.,Yeats, C.,Orengo, C.,Keep, N.H.
Crystal Structures of the Human Dysferlin Inner Dysf Domain
Bmc Struct.Biol., 14:3-, 2014

PubMed Abstract: Mutations in dysferlin, the first protein linked with the cell membrane repair mechanism, causes a group of muscular dystrophies called dysferlinopathies. Dysferlin is a type two-anchored membrane protein, with a single C terminal trans-membrane helix, and most of the protein lying in cytoplasm. Dysferlin contains several C2 domains and two DysF domains which are nested one inside the other. Many pathogenic point mutations fall in the DysF domain region.

PubMed: 24438169
DOI: 10.1186/1472-6807-14-3

実験手法

X-RAY DIFFRACTION (2.2 Å)