Cloning, mapping, and characterization of the human Rab3C gene

Cloning, mapping, and characterization of the human Rab3C gene
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DOI:
10.1023/a:1019834901190
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发表时间:
2002-08-01
影响因子:
2.4
通讯作者:
Mao, YM
Mao, YM
中科院分区:
生物学4区
文献类型:
--
作者:
Cheng, HP;Ma, YS;Mao, YM

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Rab蛋白是控制真核细胞中囊泡交通的小分子量gtp酶。Rab3蛋白是rabb蛋白的一个子集,被认为在调节囊泡胞吐中起重要作用。在对人胎儿脑cDNA文库进行大规模测序分析的过程中,我们分离到了一个编码Rab蛋白的cDNA克隆,该克隆在氨基酸水平上与先前分离的牛Rab3C蛋白具有99%的同源性。它包含Rab3家族的四个保守基序。RT-PCR分析表明,Rab3C在人脑、胎盘和肺中均有表达。通过定位,我们将Rab3C基因定位在人类染色体5q13上。Rab3C基因由6个外显子组成,跨越超过310 kb的人类基因组DNA。Rab3A、Rab3B和Rab3D被定位到三条不同的染色体上,表明它们不是同一基因的转录本。
Rab proteins are small molecular weight GTPases that control vesicular traffic in eukaryotic cells. A subset of Rab proteins, the Rab3 proteins are thought to play an important role in regulated exocytosis of vesicles. During the large-scale sequencing analysis of a human fetal brain cDNA library, we isolated a cDNA clone encoding a novel Rab protein, which showed 99% identity with previously isolated bovine Rab3C at the amino acid level. It contained four conserved motifs characteristic of the Rab3 family. RT-PCR analysis indicated that human Rab3C was expressed in the human brain, placenta, and lung. By mapping, we localized the Rab3C gene to human chromosome 5q13. The Rab3C gene consisted of 6 exons spanning more than 310 kb of human genomic DNA. Rab3A, Rab3B, and Rab3D have been mapped to three different chromosomes, suggesting that they are not transcripts of the same gene.