+データを開く
-基本情報
登録情報 | データベース: SASBDB / ID: SASDET6 |
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試料 | Polyglutamine-binding protein 1 p.Lys192Serfs*7 (PQBP-1 XLID mutant K192Sfs*7)
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機能・相同性 | 機能・相同性情報 neuronal ribonucleoprotein granule / alternative mRNA splicing, via spliceosome / regulation of dendrite morphogenesis / cellular response to exogenous dsRNA / regulation of RNA splicing / positive regulation of type I interferon production / ribonucleoprotein complex binding / positive regulation of defense response to virus by host / activation of innate immune response / mRNA Splicing - Major Pathway ...neuronal ribonucleoprotein granule / alternative mRNA splicing, via spliceosome / regulation of dendrite morphogenesis / cellular response to exogenous dsRNA / regulation of RNA splicing / positive regulation of type I interferon production / ribonucleoprotein complex binding / positive regulation of defense response to virus by host / activation of innate immune response / mRNA Splicing - Major Pathway / cytoplasmic stress granule / neuron projection development / double-stranded DNA binding / defense response to virus / transcription coactivator activity / nuclear body / nuclear speck / innate immune response / regulation of DNA-templated transcription / DNA binding / nucleoplasm / nucleus / cytoplasm 類似検索 - 分子機能 |
生物種 | Homo sapiens (ヒト) |
引用 | ジャーナル: J Struct Biol / 年: 2019 タイトル: Frameshift PQBP-1 mutants K192S and R153S implicated in X-linked intellectual disability form stable dimers. 著者: Shah Kamranur Rahman / Hitoshi Okazawa / Yu Wai Chen / 要旨: Polyglutamine tract-binding protein-1 (PQBP-1) is a nuclear intrinsically disordered protein playing important roles in transcriptional regulation and RNA splicing during embryonic and postembryonic ...Polyglutamine tract-binding protein-1 (PQBP-1) is a nuclear intrinsically disordered protein playing important roles in transcriptional regulation and RNA splicing during embryonic and postembryonic development. In human, its mutations lead to severe cognitive impairment known as the Renpenning syndrome, a form of X-linked intellectual disability (XLID). Here, we report a combined biophysical study of two PQBP-1 frameshift mutants, K192S and R153S. Both mutants are dimeric in solution, in contrast to the monomeric wild-type protein. These mutants contain more folded contents and have increased thermal stabilities. Using small-angle X-ray scattering data, we generated three-dimensional envelopes which revealed their overall flat shapes. We also described each mutant using an ensemble model based on a native-like initial pool with a dimeric structural core. PQBP-1 is known to repress transcription by way of interacting with the C-terminal domain of RNA polymerase II, which consists of 52 repeats of a consensus heptapeptide sequence YSPTSPS. We studied the binding of PQBP-1 variants to the labelled peptide which is phosphorylated at positions 2 and 5 (YpSPTpSPS) and found that this interaction is significantly weakened in the two mutants. |
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-構造の表示
構造ビューア | 分子: MolmilJmol/JSmol |
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-ダウンロードとリンク
-モデル
モデル #2556 | タイプ: dummy / ダミー原子の半径: 3.00 A / カイ2乗値: 1.063 / P-value: 0.728804 Omokage検索でこの集合体の類似形状データを探す (詳細) |
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-試料
試料 | 名称: Polyglutamine-binding protein 1 p.Lys192Serfs*7 (PQBP-1 XLID mutant K192Sfs*7) 試料濃度: 0.73-9.20 |
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バッファ | 名称: Phosphate-buffered saline / pH: 7.4 |
要素 #1182 | 名称: PQBP1 K192Sfs*7 / タイプ: protein / 記述: Polyglutamine-binding protein 1 p.Lys192Serfs*7 / 分子量: 23.254 / 分子数: 2 / 由来: Homo sapiens / 参照: UniProt: O60828 配列: GPMPLPVALQ TRLAKRGILK HLEPEPEEEI IAEDYDDDPV DYEATRLEGL PPSWYKVFDP SCGLPYYWNA DTDLVSWLSP HDPNSVVTKS AKKLRSSNAD AEEKLDRSHD KSDRGHDKSD RSHEKLDRGH DKSDRGHDKS DRDRERGYDK VDRERERDRE RDRDRGYDKA ...配列: GPMPLPVALQ TRLAKRGILK HLEPEPEEEI IAEDYDDDPV DYEATRLEGL PPSWYKVFDP SCGLPYYWNA DTDLVSWLSP HDPNSVVTKS AKKLRSSNAD AEEKLDRSHD KSDRGHDKSD RSHEKLDRGH DKSDRGHDKS DRDRERGYDK VDRERERDRE RDRDRGYDKA DREEGKERRH HRREELAPYP KSKSSKPKG |
-実験情報
ビーム | 設備名称: DORIS III EMBL X33 / 地域: Hamburg / 国: Germany / 線源: X-ray synchrotron / 波長: 0.124 Å / スペクトロメータ・検出器間距離: 3 mm | |||||||||||||||||||||||||||||||||||||||
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検出器 | 名称: Pilatus 2M | |||||||||||||||||||||||||||||||||||||||
スキャン | タイトル: Polyglutamine-binding protein 1 p.Lys192Serfs*7 (PQBP-1 XLID mutant K192Sfs*7) 測定日: 2013年2月15日 / セル温度: 10 °C / 照射時間: 0.045 sec. / 単位: 1/nm /
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距離分布関数 P(R) | ソフトウェア P(R): GNOM 5.0 / ポイント数: 1502 /
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結果 | カーブのタイプ: merged コメント: The entry displays the EOM ensemble Rg distributions and the fit to the data of the refined ensemble. The full EOM ensemble and log file describing the associated volume fractions is ...コメント: The entry displays the EOM ensemble Rg distributions and the fit to the data of the refined ensemble. The full EOM ensemble and log file describing the associated volume fractions is available for download in the full entry zip-archive.
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