The human renal sodium sulfate cotransporter (SLC13A1; hNaSi-1) cDNA and gene: Organization, chromosomal localization, and functional characterization
The human renal sodium sulfate cotransporter (SLC13A1; hNaSi-1) cDNA and gene: Organization, chromosomal localization, and functional characterization
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DOI：
10.1006/geno.2000.6404
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发表时间：
2000-12-15
期刊：
影响因子：
4.4
通讯作者：
Markovich, D
中科院分区：
文献类型：
--
作者：
Lee, A;Beck, L;Markovich, D
硫酸盐在生长、发育、骨/软骨形成和细胞代谢过程中发挥着重要作用。在本研究中，我们确定了人类Na+硫酸盐协同转运蛋白（hNaSi-1）cDNA（人类基因组命名委员会批准的符号SLC13A1）和基因（NAS1）的结构，hNaSi-1编码595个氨基酸的蛋白质，具有13个假定的跨膜结构域。 hNaSi-1 mRNA 表达仅限于人肾。非洲爪蟾卵母细胞中 hNaSi-1 蛋白的表达表现出高亲和力的 Na+-硫酸盐协同转运蛋白，可被硒酸盐、硫代硫酸盐、钼酸盐、钨酸盐、柠檬酸盐和琥珀酸盐抑制。反义抑制实验表明 hNaSi-1 代表人肾中主要的 Na+-硫酸盐协同转运蛋白。 NAS1 位于人类 7 号染色体上，定位于 7q31-q32，靠近硫酸盐转运蛋白基因 DRA 和 SUT-1。 NAS1 基因包含 15 个外显子，长度超过 83 kb。了解 hNaSi-1 的结构、功能和染色体定位将有助于筛选患有肾硫酸盐重吸收和稳态紊乱的人类的 NAS1 突变。 (C) 2000 年学术出版社。
Sulfate plays an essential role during growth, development, bone/cartilage formation, and cellular metabolism. In this study, we have determined the structure of the human Na+-sulfate cotransporter (hNaSi-1) cDNA (Human Genome Nomenclature Committee-approved symbol SLC13A1) and gene (NAS1), hNaSi-1 encodes a protein of 595 amino acids with 13 putative transmembrane domains. hNaSi-1 mRNA expression was exclusive to the human kidney. Expression of hNaSi-1 protein in Xenopus oocytes demonstrated a high-affinity Na+-sulfate cotransporter that was inhibited by selenate, thiosulfate, molybdate, tungstate, citrate, and succinate. Antisense inhibition experiments suggest hNaSi-1 to represent the major Na+-sulfate cotransporter in the human kidney. NAS1 was localized on human chromosome 7, mapped to 7q31-q32, near the sulfate transporter genes, DRA and SUT-1. The NAS1 gene contains 15 exons, spanning over 83 kb in length. Knowledge of the structure, function, and chromosomal localization of hNaSi-1 will permit the screening of NAS1 mutations in humans with disorders in renal sulfate reabsorption and homeostasis. (C) 2000 Academic Press.