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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
CCNE1 - Cyclin E1
Alias:
CCNE
pCCNE1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质属于高度保守的细胞周期蛋白家族,其成员的特点是蛋白质在细胞周期中的丰度具有明显的周期性。细胞周期蛋白作为CDK激酶的调节因子发挥作用。不同的细胞周期蛋白表现出不同的表达和降解模式,这有助于有丝分裂事件的时序协调。这个细胞周期蛋白与CDK2形成复合物并作为其调节亚基发挥作用,CDK2的活性是细胞周期G1/S过渡所必需的。这个蛋白质在G1-S期边界积累,随着细胞通过S期进展而被降解。在许多肿瘤中观察到这个基因的过度表达,导致染色体不稳定,从而可能参与肿瘤发生。这个蛋白质被发现与NPAT蛋白(定位在ATM基因座的核蛋白)的磷酸化相关并涉及其中,NPAT参与细胞周期调节的组蛋白基因表达,并在缺乏pRB的情况下在促进细胞周期进展中起到关键作用。[由RefSeq,2016年4月提供]
Related ID:
NCBI:898
ENSEMBL:ENSG00000105173
HGNC:1589
UNIPROT:P24864
OMIM:123837
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
898
6
12
12322 bp
47.08
12
--
8
21
CCNE1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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