菜单 基因医生

该基因编码一个蛋白家族成员,其特征是约有40个氨基酸基序,即二聚体。f-box蛋白是泛素蛋白连接酶复合物scfs(skp1-cullin-f-box)的四个亚基之一,在磷酸化依赖性泛素化中发挥作用。f-box蛋白分为3类:含wd-40结构域的fbws、含富含亮氨酸重复序列的fbls和含不同蛋白相互作用模块或无可识别基序的fbxs。该基因编码的蛋白质属于fbls类;除了一个f盒外,该蛋白质还含有10个富含亮氨酸的串联重复序列。该蛋白是细胞周期蛋白a-cdk2 s相激酶的一个重要成分。它特别识别磷酸化的细胞周期蛋白依赖性激酶抑制剂1b(cdkn1b,也称为p27或kip1),主要在s期,并与s期激酶相关蛋白1(skp1或p19)相互作用。此外,该基因是一种原癌基因,与淋巴瘤的发病机制密切相关。这个基因的选择性剪接产生三个编码不同亚型的转录变体。[由RefSeq提供,2011年7月]
This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class; in addition to an F-box, this protein contains 10 tandem leucine-rich repeats. This protein is an essential element of the cyclin A-CDK2 S-phase kinase. It specifically recognizes phosphorylated cyclin-dependent kinase inhibitor 1B (CDKN1B, also referred to as p27 or KIP1) predominantly in S phase and interacts with S-phase kinase-associated protein 1 (SKP1 or p19). In addition, this gene is established as a protooncogene causally involved in the pathogenesis of lymphomas. Alternative splicing of this gene generates three transcript variants encoding different isoforms. [provided by RefSeq, Jul 2011]

基因名:SKP2
别名:p45,FBL1,FLB1,FBXL1
基因ID:6502
Chromosome:
(GRCh37)
5 Start: 36152091 End: 36184143 Strand: 
信号通路:  
SKP2 基因突变与药物