人类和小鼠的丝氨酸蛋白酶抑制剂基因超家族

The Human and Mouse SERPIN Gene Superfamily

丝氨酸蛋白酶抑制剂(Serine protease inhibitor,Serpin)家族是由结构相似,功能多样的蛋白质组成。最初的serpin是根据他们的功能而命名的,其中许多成员不是抑制剂而是伴侣,它们参与储存,运输及其他作用。在所有领域的基因组中,serpin含有36个编码人蛋白质基因和5个假基因。小鼠则有60个serpin的功能基因,其中有许多是直系同源人的serpin基因,一些基因已扩展到多个旁系同源基因。丝氨酸蛋白酶抑制因子(serpins)分布于全身组织;其中大多数在细胞外,也有一些在细胞内。经研究显示,serpins可能对炎症,免疫功能,肿瘤发生,血液凝固,痴呆和肿瘤转移都有作用。根据这些蛋白的特性,可能将会进一步发现疾病的潜在生物标志物和治疗靶点。

The serpin family was composed of a structurally similar and functionally diverse proteins. Named originally for their function as serine proteinase inhibitors, many of its members are not inhibitors, but rather chaperones, involved in storage, transport, and other roles. Serpins are found in genomes of all kingdoms, with 36 human protein-coding genes and 5 pseudogenes. The mouse has 60 Serpin functional genes, many of which are orthologous to human SERPIN genes and some of which have expanded into multiple paralogous genes. Serpins are found in tissues throughout the body; whereas most are extracellular, there is a class of intracellular serpins. Serpins appear to play roles in inflammation, immune function, tumorigenesis, blood clotting, dementia, and cancer metastasis. Further characterization of these proteins will likely reveal potential biomarkers and therapeutic targets for disease.