Cloning and characterization of 4.1G (EPB41L2), a new member of the skeletal protein 4.1 (EPB41) gene family

Cloning and characterization of 4.1G (EPB41L2), a new member of the skeletal protein 4.1 (EPB41) gene family
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DOI:
10.1006/geno.1998.5265
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发表时间:
1998-04-15
期刊:
影响因子:
4.4
通讯作者:
Conboy, JG
Conboy, JG
中科院分区:
生物学3区
文献类型:
--
作者:
Parra, M;Gascard, P;Conboy, JG

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原型红细胞膜骨架蛋白4.1(HGMW批准的符号EPB 41),这里指定为4.1R,由位于人类染色体1 p32-p33上的大的复杂剪接基因编码。在本文中,我们报告了第二个4.1基因4.1G(HGMW批准的符号EPB 41 L2)的证据,该基因定位于人类染色体6 q23,并在人类组织中广泛表达。4.1G cDNA的完整核苷酸序列预测了一个113 kDa的蛋白质,该蛋白质与4.1R具有高度同源性的三个区域,包括膜结合结构域、血影蛋白-肌动蛋白结合结构域和C-末端结构域。散布在共享结构域之间的是独特的序列,其可以定义4.1R和4.1G之间的功能差异。4.1R和4.1G的特异性亚型表现出不同的亚细胞定位。这些结果扩展了4.1基因超家族,并证明4.1同种型的不同细胞补体是由不同基因的选择性剪接和表达引起的。(C)北京:科学出版社.
The prototypical erythrocyte membrane skeletal protein 4.1 (HGMW-approved symbol EPB41), here designated 4.1R, is encoded by a large, complexly spliced gene located on human chromosome 1p32-p33. In this paper we report evidence for a second 4.1 gene, 4.1G (HGMW-approved symbol EPB41L2), which maps to human chromosome 6q23 and is widely expressed among human tissues. The complete nucleotide sequence of 4.1G cDNA predicts a 113-kDa protein that exhibits three regions of high homology to 4.1R, including the membrane binding domain, the spectrin-actin binding domain, and the C-terminal domain. Interspersed among the shared domains are unique sequences that may define functional differences between 4.1R and 4.1G. Specific isoforms of 4.1R and 4.1G exhibit differential subcellular localizations. These results expand the 4.1 gene superfamily and demonstrate that the diverse cellular complement of 4.1 isoforms results from both alternative splicing and expression Of distinct genes. (C) 1998 Academic Press.