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  • 發布時間:2022-07-27 10:54 原文鏈接: INPP5D基因突變與藥物因子介紹

    該基因是肌醇多磷酸-5-磷酸酶(inpp5)家族的一員,編碼一個具有n末端sh2結構域、肌醇磷酸酶結構域和兩個c末端蛋白質相互作用結構域的蛋白質。這種蛋白的表達僅限于造血細胞,其從胞漿到質膜的運動是由酪氨酸磷酸化介導的在質膜上,蛋白質從磷脂酰肌醇(3,4,5)-三磷酸和肌醇-1,3,4,5-四磷酸水解5'磷酸,從而影響多種信號通路。該蛋白也部分定位于細胞核,可能參與核磷酸肌醇信號傳導過程。總的來說,該蛋白是骨髓細胞增殖和存活的負調控因子。這種基因的突變與免疫系統的缺陷和癌癥有關。該基因的選擇性剪接導致多個轉錄變體。[由RefSeq提供,2014年2月]
    This gene is a member of the inositol polyphosphate-5-phosphatase (INPP5) family and encodes a protein with an N-terminal SH2 domain, an inositol phosphatase domain, and two C-terminal protein interaction domains. Expression of this protein is restricted to hematopoietic cells where its movement from the cytosol to the plasma membrane is mediated by tyrosine phosphorylation. At the plasma membrane, the protein hydrolyzes the 5' phosphate from phosphatidylinositol (3,4,5)-trisphosphate and inositol-1,3,4,5-tetrakisphosphate, thereby affecting multiple signaling pathways. The protein is also partly localized to the nucleus, where it may be involved in nuclear inositol phosphate signaling processes. Overall, the protein functions as a negative regulator of myeloid cell proliferation and survival. Mutations in this gene are associated with defects and cancers of the immune system. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2014]

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