Genes and proteins of urea transporters.
Genes and proteins of urea transporters.
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DOI：
10.1007/978-94-017-9343-8_4
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发表时间：
2014-01-01
影响因子：
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通讯作者：
Blount, Mitsi A
中科院分区：
文献类型：
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作者：
Sands, Jeff M;Blount, Mitsi A
1987年首次提出肾脏中的尿素转运蛋白。1993年克隆了第一个尿素转运蛋白cDNA。SLC 14 a尿素转运蛋白家族包含两个主要亚组：SLC 14 a1，最初从红细胞中分离的UT-B尿素转运蛋白; SLC 14 a2，最初从肾内髓质中分离的UT-A组。Slc 14 a1是人类UT-B基因，来自位于染色体18q12.1-q21.1上的单个位点，其位于Slc 14 a2附近。slc 14 a1基因包括11个外显子，编码区从外显子4延伸到外显子11，长度约为30 kb。Slc 14 a2基因是一个非常大的基因，具有24个外显子，长约300 kb，编码6种不同的亚型。Slc 14 a2包含两个启动子元件：启动子I位于外显子1上游的典型位置，驱动UT-A1、UT-A1 b、UT-A3、UT-A3 b和UT-A4的转录;而启动子II位于内含子12内，驱动UT-A2和UT-A2 b的转录。UT-A1和UT-A3位于内髓集合管中，UT-A2位于细降支和肝脏中，UT-A5位于睾丸中，UT-A6位于结肠中，UT-B1主要位于降直血管和红细胞中，UT-B2位于瘤胃中。
A urea transporter protein in the kidney was first proposed in 1987. The first urea transporter cDNA was cloned in 1993. The SLC14a urea transporter family contains two major subgroups: SLC14a1, the UT-B urea transporter originally isolated from erythrocytes; and SLC14a2, the UT-A group originally isolated from kidney inner medulla. Slc14a1, the human UT-B gene, arises from a single locus located on chromosome 18q12.1-q21.1, which is located close to Slc14a2. Slc14a1 includes 11 exons, with the coding region extending from exon 4 to exon 11, and is approximately 30kb in length. The Slc14a2 gene is a very large gene with 24 exons, is approximately 300kb in length, and encodes 6 different isoforms. Slc14a2 contains two promoter elements: promoter I is located in the typical position, upstream of exon 1, and drives the transcription of UT-A1, UT-A1b, UT-A3, UT-A3b, and UT-A4; while promoter II is located within intron 12 and drives the transcription of UT-A2 and UT-A2b. UT-A1 and UT-A3 are located in the inner medullary collecting duct, UT-A2 in the thin descending limb and liver, UT-A5 in testis, UT-A6 in colon, UT-B1 primarily in descending vasa recta and erythrocytes, and UT-B2 in rumen.