The BLOS1-interacting protein KXD1 is involved in the biogenesis of lysosome-related organelles.
The BLOS1-interacting protein KXD1 is involved in the biogenesis of lysosome-related organelles.
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DOI：
10.1111/j.1600-0854.2012.01375.x
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发表时间：
2012-08
期刊：
影响因子：
--
通讯作者：
Li W
中科院分区：
文献类型：
--
作者：
Yang Q;He X;Yang L;Zhou Z;Cullinane AR;Wei A;Zhang Z;Hao Z;Zhang A;He M;Feng Y;Gao X;Gahl WA;Huizing M;Li W
溶酶体相关细胞器复合体的生物发生-1(BLOC-1)是一个参与溶酶体转运的八亚单位复合体。这些亚基相互作用的蛋白质扩大了对其生物学功能的理解。随着朴素贝叶斯分析的实施，我们发现一个人类未鉴定的20 kDa螺旋卷曲KxDL蛋白KXD1是一个与BLOS1相互作用的蛋白。体外结合实验证实了BLOS1与KXD1的相互作用。小鼠KXD1同源基因在Kxd1基因敲除(KO)小鼠中广泛表达，但缺失。Kxd1-KO小鼠BLOS1明显减少。在Kxd1-KO小鼠的视网膜色素上皮黑素小体和血小板致密颗粒中观察到轻微的缺陷，类似于影响溶酶体相关细胞器生物发生的轻度Hermansky-Pudlak综合征小鼠模型。
Biogenesis of lysosome-related organelles complex-1 (BLOC-1) is an eight-subunit complex involved in lysosomal trafficking. Interacting proteins of these subunits expand the understanding of its biological functions. With the implementation of the naïve Bayesian analysis, we found that a human uncharacterized 20 kDa coiled-coil KxDL protein, KXD1, is a BLOS1-interacting protein. In vitro binding assays confirmed the interaction between BLOS1 and KXD1. Mouse KXD1 homolog was widely expressed and absent in Kxd1 knockout (KO) mice. BLOS1 was apparently reduced in Kxd1-KO mice. Mild defects in the melanosomes of the retinal pigment epithelia and in the platelet dense granules of the Kxd1-KO mouse were observed, mimicking a mouse model of mild Hermansky-Pudlak syndrome that affects the biogenesis of lysosome-related organelles.
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DOI：
10.1523/jneurosci.5640-11.2012
发表时间：
2012-03-14
期刊：
The Journal of neuroscience : the official journal of the Society for Neuroscience
影响因子：
--
作者：
Gokhale A;Larimore J;Werner E;So L;Moreno-De-Luca A;Lese-Martin C;Lupashin VV;Smith Y;Faundez V
通讯作者：
Faundez V
影响因子：
3.3
作者：
Hermann, GJ;Schroeder, LK;Priess, JR
通讯作者：
Priess, JR
影响因子：
20.3
作者：
Gwynn, B;Martina, JA;Peters, LL
通讯作者：
Peters, LL
影响因子：
4.5
作者：
Falcon-Perez, Juan M.;Romero-Calderon, Rafael;Dell'Angelica, Esteban C.
通讯作者：
Dell'Angelica, Esteban C.
影响因子：
30.8
作者：
Huang, LP;Kuo, YM;Gitschier, J
通讯作者：
Gitschier, J