THE POLYCYSTIC KIDNEY-DISEASE-1 (PKD1) GENE ENCODES A NOVEL PROTEIN WITH MULTIPLE CELL RECOGNITION DOMAINS
THE POLYCYSTIC KIDNEY-DISEASE-1 (PKD1) GENE ENCODES A NOVEL PROTEIN WITH MULTIPLE CELL RECOGNITION DOMAINS
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DOI：
10.1038/ng0695-151
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发表时间：
1995-06-01
期刊：
影响因子：
30.8
通讯作者：
HARRIS, PC
中科院分区：
文献类型：
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作者：
HUGHES, J;WARD, CJ;HARRIS, PC
由于16号染色体上的基因组重排，多囊肾病1(PKD1)基因的特征变得复杂。我们使用外显子连接策略，从含有PKD1而不是重复基因座的细胞系中提取RNA，克隆整个转录本的cDNA重叠群。该转录本由14,148个碱基组成(包括对先前描述的C末端的校正)，分布在46个外显子中，跨度为52 kb。预测的PKD1蛋白为多囊蛋白，是一种具有多个跨膜结构域和细胞质C-尾的糖蛋白。超过2,500个氨基酸的N-末端胞外区含有富含亮氨酸的重复序列、一个C型凝集素、16个免疫球蛋白样重复序列和4个III型纤维连接蛋白相关结构域。我们的结果表明，多囊蛋白是参与细胞-细胞/基质相互作用的一种完整的膜蛋白。
Characterization of the polycystic kidney disease 1 (PKD1) gene has been complicated by genomic rearrangements on chromosome 16. We have used an exon linking strategy, taking RNA from a cell line containing PKD1 but not the duplicate loci, to clone a cDNA contig of the entire transcript. The transcript consists of 14,148 bp (including a correction to the previously described C terminus), distributed among 46 exons spanning 52 kb. The predicted PKD1 protein, polycystin, is a glycoprotein with multiple transmembrane domains and a cytoplasmic C-tail. The N-terminal extracellular region of over 2,500 aa contains leucine-rich repeats, a C-type lectin, 16 immunoglobulin-like repeats and four type III fibronectin-related domains. Our results indicate that polycystin is an integral membrane protein involved in cell-cell/matrix interactions.