4QVZ

FMRP N-terminal domain

4QVZ の概要

• エントリーDOI: 10.2210/pdb4qvz/pdb
• 関連するPDBエントリー: 4QW2
• 分子名称: Fragile X mental retardation protein 1, 1,2-ETHANEDIOL (3 entities in total)
• 機能のキーワード: fmrp, fmr1, tandem agenet, kh, histone binding, rna binding, nuclear, translation
• 由来する生物種: Homo sapiens (human)
• 細胞内の位置: Cytoplasm: Q06787
• タンパク質・核酸の鎖数: 2
• 化学式量合計: 49946.80

構造登録者

Myrick, L.K.,Hashimoto, H.,Cheng, X.,Warren, S.T. (登録日: 2014-07-16, 公開日: 2014-12-03, 最終更新日: 2023-09-20)

主引用文献

Myrick, L.K.,Hashimoto, H.,Cheng, X.,Warren, S.T.
Human FMRP contains an integral tandem Agenet (Tudor) and KH motif in the amino terminal domain.
Hum.Mol.Genet., 24:1733-1740, 2015

PubMed Abstract: Fragile X syndrome, a common cause of intellectual disability and autism, is due to mutational silencing of the FMR1 gene leading to the absence of its gene product, fragile X mental retardation protein (FMRP). FMRP is a selective RNA binding protein owing to two central K-homology domains and a C-terminal arginine-glycine-glycine (RGG) box. However, several properties of the FMRP amino terminus are unresolved. It has been documented for over a decade that the amino terminus has the ability to bind RNA despite having no recognizable functional motifs. Moreover, the amino terminus has recently been shown to bind chromatin and influence the DNA damage response as well as function in the presynaptic space, modulating action potential duration. We report here the amino terminal crystal structures of wild-type FMRP, and a mutant (R138Q) that disrupts the amino terminus function, containing an integral tandem Agenet and discover a novel KH motif.

PubMed: 25416280
DOI: 10.1093/hmg/ddu586

実験手法

X-RAY DIFFRACTION (3.195 Å)