4YD8

Bardet-Biedl Syndrome 9 Protein (aa1-407), Homo sapiens

4YD8 の概要

• エントリーDOI: 10.2210/pdb4yd8/pdb
• 分子名称: Protein PTHB1 (2 entities in total)
• 機能のキーワード: beta propeller, structural protein, bbsome, coat complex, protein transport
• 由来する生物種: Homo sapiens (Human)
• タンパク質・核酸の鎖数: 2
• 化学式量合計: 93035.67

構造登録者

Knockenhauer, K.E.,Schwartz, T.U. (登録日: 2015-02-21, 公開日: 2015-06-24, 最終更新日: 2024-11-06)

主引用文献

Knockenhauer, K.E.,Schwartz, T.U.
Structural Characterization of Bardet-Biedl Syndrome 9 Protein (BBS9).
J.Biol.Chem., 290:19569-19583, 2015

PubMed Abstract: The Bardet-Biedl syndrome protein complex (BBSome) is an octameric complex that transports membrane proteins into the primary cilium signaling organelle in eukaryotes and is implicated in human disease. Here we have analyzed the 99-kDa human BBS9 protein, one of the eight BBSome components. The protein is composed of four structured domains, including a β-stranded N-terminal domain. The 1.8 Å crystal structure of the 46-kDa N-terminal domain reveals a seven-bladed β-propeller. A structure-based homology search suggests that it functions in protein-protein interactions. We show that the Bardet-Biedl syndrome-causing G141R mutation in BBS9 likely results in misfolding of the β-propeller. Although the C-terminal half of BBS9 dimerizes in solution, the N-terminal domain only does so in the crystal lattice. This C-terminal dimerization interface might be important for the assembly of the BBSome.

PubMed: 26085087
DOI: 10.1074/jbc.M115.649202

実験手法

X-RAY DIFFRACTION (1.8 Å)