小年
(2023-01-31 13:23):
#paper doi:10.1007/978-1-4939-1221-6_1. Evolutionary Conservation and Expression of Human RNA-Binding Proteins and Their Role in Human Genetic Disease. Adv Exp Med Biol.2014. RNA结合蛋白（RBP）是转录后基因调控（PTGR）的效应子和调节因子。RBP调节所有RNA的稳定性、成熟度和周转，通常在许多位点结合数千个靶标。RBP的重要性通过其失调或突变导致各种发育和神经系统疾病而得到强调。
此研究明确了RBP相关基因的列表，选择参与Pfam定义的RNA相关过程的RBD，并在人类基因组中搜索包含至少一个选定结构域的任何蛋白质编码基因，但总体上保持对基因及其RNA靶标的假定功能无偏倚。在获得2130个候选者的列表后，添加了来自文献检索的已知RBP，其中包含未分类的RBD，并额外筛选了通过GO和蛋白质组范围的质谱数据集基于文献的证据表明他们参与了PTGR。RBP基因列表根据以下主要标准最终确定：（1）蛋白质具有确定的RNA结合或RNA酶结构域，（2）实验证明蛋白质是RNP复合物的一部分，因此参与RNA代谢途径，或（3）它们对PTGR中涉及的同系物和副同源物具有高序列同一性。通过上述方法，最终得出了1542种蛋白质。
Advances in experimental medicine and biology,
2014.
DOI: 10.1007/978-1-4939-1221-6_1
PMID: 25201102
Evolutionary conservation and expression of human RNA-binding proteins and their role in human genetic disease
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Abstract:
RNA-binding proteins (RBPs) are effectors and regulators of posttranscriptional gene regulation (PTGR). RBPs regulate stability, maturation, and turnover of all RNAs, often binding thousands of targets at many sites. The importance of RBPs is underscored by their dysregulation or mutations causing a variety of developmental and neurological diseases. This chapter globally discusses human RBPs and provides a brief introduction to their identification and RNA targets. We review RBPs based on common structural RNA-binding domains, study their evolutionary conservation and expression, and summarize disease associations of different RBP classes.
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