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首页> 外文期刊>Genomics >A novel human amino acid transporter, hNAT3: cDNA cloning, chromosomal mapping, genomic structure, expression, and functional characterization.
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A novel human amino acid transporter, hNAT3: cDNA cloning, chromosomal mapping, genomic structure, expression, and functional characterization.

机译：一种新型的人类氨基酸转运蛋白hNAT3：cDNA克隆，染色体作图，基因组结构，表达和功能表征。

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摘要

Amino acid transporters are proteins that transport amino acids across the membrane. We report here the isolation and characterization of a novel human cDNA clone encoding a protein of 547 amino acids. This protein shares approximately 50% amino acid sequence homology with the amino acid transporters mouse mNAT and its orthologs, rat SN1 and human g17, and mouse GlnT/ATA1 and ATA2. Expression of this cRNA in Xenopus oocytes revealed that the strongest transport activities were specific for l-alanine. In addition, hNAT3 is a Na(+)- and pH-dependent, low-affinity transporter and partially tolerates substitution of Na(+) by Li(+). Since this protein has sequence and functional similarities to the previously identified system N amino acid transporters, we named this protein hNAT3. The genomic DNA sequence encoding the transcript of hNAT3 spans over 14 kb with 16 exons and 15 introns. Using fluorescence in situ hybridization, we mapped the hNAT3 gene to human chromosome 12q12-q13. By RT-PCR of embryonic and adult human tissues, hNAT3 was detected to be predominantly expressed in the liver and to a much lesser extent in the muscle, kidney, and pancreas. The data obtained in this study are likely to offer critical clues for identification of amino acid transporter-associated diseases. Copyright 2001 Academic Press.
机译：氨基酸转运蛋白是在整个膜上转运氨基酸的蛋白质。我们在这里报告编码547个氨基酸的蛋白质的新型人类cDNA克隆的分离和表征。该蛋白与小鼠mNAT及其直系同源物，大鼠SN1和人g17以及小鼠GlnT / ATA1和ATA2的氨基酸转运蛋白具有大约50％的氨基酸序列同源性。这种cRNA在非洲爪蟾卵母细胞中的表达表明，最强的转运活性对1-丙氨酸具有特异性。此外，hNAT3是Na（+）和pH依赖的低亲和力转运蛋白，部分耐受Na（+）被Li（+）取代。由于该蛋白与先前鉴定的系统N个氨基酸转运蛋白具有序列和功能相似性，因此我们将此蛋白命名为hNAT3。编码hNAT3转录本的基因组DNA序列跨度超过14 kb，带有16个外显子和15个内含子。使用荧光原位杂交，我们将hNAT3基因映射到人类染色体12q12-q13。通过胚胎和成人组织的RT-PCR，检测到hNAT3主要在肝脏中表达，而在肌肉，肾脏和胰腺中的表达程度要低得多。这项研究中获得的数据可能为鉴定氨基酸转运蛋白相关疾病提供关键线索。版权所有2001，学术出版社。

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