Molecular cloning and characterization of a novel form of the human vacuolar H+-ATPase e-subunit:: An essential proton pump component

被引：24

作者：

Blake-Palmer, Katherine G. ^{[1
]}

Su, Ya ^{[1
]}

Smith, Annabel N. ^{[1
]}

Karet, Fiona E. ^{[1
]}

机构：

[1] Univ Cambridge, Cambridge Inst Med Res, Dept Med Genet, Cambridge CB2 0XY, England

来源：

GENE | 2007年 / 393卷 / 1-2期

基金：

英国惠康基金;

关键词：

H+-ATPase; proton pump; kidney; brain; subunit;

D O I：

10.1016/j.gene.2007.01.020

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Several of the 13 subunits comprising mammalian H+-ATPases have multiple alternative forms, encoded by separate genes and with differing tissue expression patterns. These may play an important role in the intracellular localization and activity of H+-ATPases. Here we report the cloning of a previously uncharacterized human gene, ATP6V0E2, encoding a novel H+-ATPase e-subunit designated e2. We demonstrate that in contrast to the ubiquitously expressed gene encoding the el subunit (previously called e), this novel gene is expressed in a more restricted tissue distribution, particularly kidney and brain. We show by complementation studies in a yeast strain deficient for the ortholog of this subunit, that either form of the e-subunit is essential for proper proton pump function. The identification of this novel form of the e-subunit lends further support to the hypothesis that subunit differences may play a key role in the structure, site and function of H+-ATPases within the cell. (C) 2007 Elsevier B.V. All rights reserved.

引用

页码：94 / 100

页数：7

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