The 10 sea urchin receptor for egg jelly proteins (SpREJ) are members of the polycystic kidney disease-1 (PKD1) family.
The 10 sea urchin receptor for egg jelly proteins (SpREJ) are members of the polycystic kidney disease-1 (PKD1) family.
复制标题
卵果冻蛋白（SPREJ）的10个海胆受体是多囊肾脏病1（PKD1）家族的成员。
DOI：
10.1186/1471-2164-8-235
复制
发表时间：
2007-07-13
期刊：
影响因子：
4.4
通讯作者：
Vacquier, Victor D.
中科院分区：
文献类型：
--
作者：
Gunaratne, H. Jayantha;Moy, Gary W.;Kinukawa, Masashi;Miyata, Shinji;Mah, Silvia A.;Vacquier, Victor D.
人类多囊肾病-1(HPKD1)基因突变导致约85%的常染色体显性遗传性多囊肾病，这是最常见的人类单基因疾病。PKD1蛋白是一种大的多结构域蛋白，参与多种信号转导机制。获得更多关于PKD1家族成员的信息将有助于阐明它们的功能。人类有5个hPKD1蛋白，而海胆有10个。海胆的PKD1蛋白被称为蛋冻受体，或SpREJ蛋白。SpREJ蛋白是PKD1家族中的一个亚家族。它们通常含有C型凝集素结构域、PKD重复序列、Rej结构域、GPS结构域、Plat/LH2结构域、1-11个跨膜片段和一个C末端卷曲结构域。测定了10个SpREJ的全长cDNA序列。预测了它们的推导蛋白的二级结构，并与5个人hPKD1蛋白进行了比较。10个SpREJ的基因组结构显示出较低的相似性。所有10个SpREJ都是在胚胎或成人组织中转录的。SpREJ在胚胎发育过程中表现出不同的表达模式。成人组织表现出特定于组织的SpREJ表达模式。拥有大约600个残基的Rej结构域定义了这个家族。除SpREJ1和3被认为与精子顶体反应有关外，其他SpREJ蛋白的功能尚不清楚。海胆的基因组只有人类基因组的四分之一，但海胆有10个SpREJ蛋白，而人类只有5个。这些蛋白质中每一种的组织特异性功能的确定将对那些研究棘皮动物发育的人感兴趣。海胆是基本的后口动物，是通往脊椎动物的进化线。对单个PKD1蛋白的研究将增加我们对该基因家族重要性的认识。
Mutations in the human polycystic kidney disease-1 (hPKD1) gene result in ~85% of cases of autosomal dominant polycystic kidney disease, the most frequent human monogenic disease. PKD1 proteins are large multidomain proteins involved in a variety of signal transduction mechanisms. Obtaining more information about members of the PKD1 family will help to clarify their functions. Humans have five hPKD1 proteins, whereas sea urchins have 10. The PKD1 proteins of the sea urchin, Strongylocentrotus purpuratus, are referred to as the Receptor for Egg Jelly, or SpREJ proteins. The SpREJ proteins form a subfamily within the PKD1 family. They frequently contain C-type lectin domains, PKD repeats, a REJ domain, a GPS domain, a PLAT/LH2 domain, 1–11 transmembrane segments and a C-terminal coiled-coil domain. The 10 full-length SpREJ cDNA sequences were determined. The secondary structures of their deduced proteins were predicted and compared to the five human hPKD1 proteins. The genomic structures of the 10 SpREJs show low similarity to each other. All 10 SpREJs are transcribed in either embryos or adult tissues. SpREJs show distinct patterns of expression during embryogenesis. Adult tissues show tissue-specific patterns of SpREJ expression. Possession of a REJ domain of about 600 residues defines this family. Except for SpREJ1 and 3, that are thought to be associated with the sperm acrosome reaction, the functions of the other SpREJ proteins remain unknown. The sea urchin genome is one-fourth the size of the human genome, but sea urchins have 10 SpREJ proteins, whereas humans have five. Determination of the tissue specific function of each of these proteins will be of interest to those studying echinoderm development. Sea urchins are basal deuterostomes, the line of evolution leading to the vertebrates. The study of individual PKD1 proteins will increase our knowledge of the importance of this gene family.
登录
查看更多内容
影响因子：
2.5
作者：
Neill, AT;Moy, GW;Vacquier, VD
通讯作者：
Vacquier, VD
鸡蛋果冻的海胆精子受体是一种模块化蛋白，与人类多囊肾脏病蛋白PKD1具有广泛的同源性。
影响因子：
7.8
作者：
Moy, GW;Mendoza, LM;Schulz, JR;Swanson, WJ;Glabe, CG;Vacquier, VD
通讯作者：
Vacquier, VD
影响因子：
13.6
作者：
Barr, MM
通讯作者：
Barr, MM
影响因子：
4.4
作者：
Li, AR;Tian, X;Somlo, S
通讯作者：
Somlo, S
影响因子：
11.8
作者：
Low, SH;Vasanth, S;Weimbs, T
通讯作者：
Weimbs, T