Ni Xiaohua, Ma Yushu, Cheng Haipeng, Jiang Min, Guo Lingchen, Ji Chaoneng, Gu Shaohua, Cao Yueqong, Xie Yi, Mao Yumin
State Key Laboratory of Genetic Engineering, Institute of Genetics, School of Life Sciences, Fudan University, Shanghai 200433, PR China.
J Hum Genet. 2002;47(10):548-51. doi: 10.1007/s100380200083.
Rab proteins are small-molecular-weight guanosine triphosphatases (GTPases) that control vesicular traffic in eukaryotic cells. The small GTPase Rab2 is a resident of pre-Golgi intermediates and is required for protein transport from the endoplasmic reticulum to the Golgi complex. We identified a novel human Rab (Rab2B) gene that was 2312 bp in length and encoded a protein of 216 amino acid residues. The protein shared high homology with mouse Rab2 (identity 83%, similarity 91%). The expression pattern of the human Rab2B gene showed that there is a transcript in kidney, prostate, lung, liver, thymus, colon, pancreas, and skeletal muscle, and low levels in placenta, whereas specific bands of the transcript could not be detected in heart, brain, spleen, testis, ovary, small intestine, and leukocyte. Overexpression has been observed in colon adenocarcinoma CX-1. The Rab2B gene consists of nine exons and eight introns and is mapped to chromosome 14q11.1-14q11.2 by bioinformatics analysis.
Rab蛋白是小分子质量的鸟苷三磷酸酶（GTP酶），可控制真核细胞中的囊泡运输。小GTP酶Rab2是高尔基体前体中间体的驻留蛋白，是蛋白质从内质网运输到高尔基体复合体所必需的。我们鉴定出一个新的人类Rab（Rab2B）基因，其长度为2312 bp，编码一个由216个氨基酸残基组成的蛋白质。该蛋白质与小鼠Rab2具有高度同源性（同一性83%，相似性91%）。人类Rab2B基因的表达模式表明，在肾脏、前列腺、肺、肝脏、胸腺、结肠、胰腺和骨骼肌中有转录本，在胎盘中水平较低，而在心脏、大脑、脾脏、睾丸、卵巢、小肠和白细胞中未检测到转录本的特异性条带。在结肠腺癌CX-1中观察到过表达。Rab2B基因由9个外显子和8个内含子组成，通过生物信息学分析定位到14号染色体q11.1 - 14q11.2。
