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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
SKP2 - S-phase Kinase Associated Protein 2
Alias:
p45
FBL1
FLB1
FBXL1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
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这个基因编码F-box蛋白家族的一员,其特征是一个大约40个氨基酸的基序,即F-box。F-box蛋白构成了泛蛋白酶体复合物的四个亚基之一,称为SCFs(SKP1-cullin-F-box),其功能在于磷酸化依赖性的泛蛋白酶化。F-box蛋白分为三类:包含WD-40结构的Fbws,包含富亮氨酸重复序列的Fbls,以及包含不同蛋白质-蛋白质相互作用模块或无明显识别基序的Fbxs。这个基因编码的蛋白质属于Fbls类;除了一个F-box外,这个蛋白质还包含10个串联的富亮氨酸重复序列。这个蛋白质是细胞周期蛋白A-CDK2 S期激酶的基本成分。它可以特异性地识别主要在S期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),并与S期激酶相关蛋白1(SKP1或p19)相互作用。此外,这个基因被确立为一个原癌基因,与淋巴瘤的发病机制有因果关系。这个基因的替代剪接产生了三种编码不同异质体的转录变异体。[由RefSeq,2011年7月提供]
Related ID:
NCBI:6502
ENSEMBL:ENSG00000145604
HGNC:10901
UNIPROT:Q13309
OMIM:601436
Basic Information
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6502
4
10
41420 bp
47.76
9
--
5
33
SKP2 Genetics information (+)
GRCh38
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* This data comes from NCBI.
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