Chopra V S, Metzler M, Rasper D M, Engqvist-Goldstein A E, Singaraja R, Gan L, Fichter K M, McCutcheon K, Drubin D, Nicholson D W, Hayden M R
Department of Medical Genetics, and Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, Canada.
Mamm Genome. 2000 Nov;11(11):1006-15. doi: 10.1007/s003350010195.
Huntingtin-interacting protein I (HIP1) is a membrane-associated protein that interacts with huntingtin, the protein altered in Huntington disease. HIP1 shows homology to Sla2p, a protein essential for the assembly and function of the cytoskeleton and endocytosis in Saccharomyces cerevisiae. We have determined that the HIP1 gene comprises 32 exons spanning approximately 215 kb of genomic DNA and gives rise to two alternate splice forms termed HIP1-1 and HIP1-2. Additionally, we have identified a novel protein termed HIP12 with significant sequence and biochemical similarities to HIP1 and high sequence similarity to Sla2p. HIP12 differs from HIP1 in its pattern of expression both at the mRNA and protein level. However, HIP1 and HIP12 are both found within the brain and show a similar subcellular distribution pattern. In contrast to HIP1, which is toxic in cell culture, HIP12 does not confer toxicity in the same assay systems. Interestingly, HIP12 does not interact with huntingtin but can interact with HIP1. suggesting a potential interaction in vivo that may influence the function of each respective protein.
亨廷顿相互作用蛋白1（HIP1）是一种与膜相关的蛋白，它与亨廷顿蛋白相互作用，而亨廷顿蛋白在亨廷顿病中发生改变。HIP1与Sla2p具有同源性，Sla2p是酿酒酵母细胞骨架组装和内吞作用所必需的一种蛋白。我们已经确定，HIP1基因由32个外显子组成，跨越约215 kb的基因组DNA，并产生两种交替剪接形式，称为HIP1-1和HIP1-2。此外，我们还鉴定出一种名为HIP12的新蛋白，它与HIP1在序列和生化特性上具有显著相似性，与Sla2p具有高度序列相似性。HIP12在mRNA和蛋白质水平的表达模式与HIP1不同。然而，HIP1和HIP12都存在于大脑中，并显示出相似的亚细胞分布模式。与在细胞培养中具有毒性的HIP1不同，HIP12在相同的检测系统中不具有毒性。有趣的是，HIP12不与亨廷顿蛋白相互作用，但可以与HIP1相互作用。这表明在体内可能存在一种潜在的相互作用，可以影响各自蛋白质的功能。
