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  • 發布時間:2022-08-08 16:29 原文鏈接: 與白血病相關的NUP98基因編碼功能描述

    核孔復合物(NPC)調節大分子在細胞核和細胞質之間的轉運,由許多多肽亞單位組成,其中許多屬于核孔蛋白家族。該基因屬于核孔蛋白基因家族,編碼一個186kDa前體蛋白,該前體蛋白經過自保護裂解產生一個98kDa的核孔蛋白和96kDa的核孔蛋白。98kDa核孔蛋白包含一個gly-leu-phe-gly(glgf)重復域,參與許多細胞過程,包括核輸入、核輸出、有絲分裂進程和基因表達調控。96kDa核蛋白是鼻咽癌的支架成分。蛋白水解酶對鼻咽癌的靶向研究具有重要意義。在不同的白血病患者中,觀察到該基因與許多其他伙伴基因之間的易位。重排通常導致與該基因的N末端glgf結構域的嵌合到伙伴基因的C末端。選擇性剪接導致編碼不同亞型的多個轉錄變體,其中至少兩個亞型被蛋白水解處理。有些變體缺少編碼96kDa核仁孔蛋白的區域。
    Nuclear pore complexes (NPCs) regulate the transport of macromolecules between the nucleus and cytoplasm, and are composed of many polypeptide subunits, many of which belong to the nucleoporin family. This gene belongs to the nucleoporin gene family and encodes a 186 kDa precursor protein that undergoes autoproteolytic cleavage to generate a 98 kDa nucleoporin and 96 kDa nucleoporin. The 98 kDa nucleoporin contains a Gly-Leu-Phe-Gly (GLGF) repeat domain and participates in many cellular processes, including nuclear import, nuclear export, mitotic progression, and regulation of gene expression. The 96 kDa nucleoporin is a scaffold component of the NPC. Proteolytic cleavage is important for targeting of the proteins to the NPC. Translocations between this gene and many other partner genes have been observed in different leukemias. Rearrangements typically result in chimeras with the N-terminal GLGF domain of this gene to the C-terminus of the partner gene. Alternative splicing results in multiple transcript variants encoding different isoforms, at least two of which are proteolytically processed. Some variants lack the region that encodes the 96 kDa nucleoporin.

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