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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
CDKN1A - Cyclin Dependent Kinase Inhibitor 1A
Alias:
P21
CIP1
SDI1
WAF1
CAP20
CDKN1
MDA-6
p21CIP1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
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这个基因编码一个有效的细胞周期依赖的激酶抑制剂。编码的蛋白质结合并抑制细胞周期-细胞周期依赖的激酶2或细胞周期-细胞周期依赖的激酶4复合物的活性,从而作为G1期细胞周期进程的调节因子。这个基因的表达受到肿瘤抑制蛋白p53的严格控制,通过这个蛋白质,这个蛋白质可以调节p53依赖的细胞周期G1期在响应各种应激刺激下的停滞。这个蛋白质可以与增殖细胞核抗原相互作用,后者是一个DNA聚合酶辅助因子,在S期DNA复制和DNA损伤修复中起到调节作用。据报道,这个蛋白质可以被CASP3样caspase特异地切割,从而导致细胞周期依赖的激酶2的显著激活,可能是在caspase激活后细胞凋亡的执行中起作用的。缺乏这个基因的小鼠具有修复受损或缺失组织的能力。已经发现这个基因的多个可变剪接变异体。[由RefSeq,2015年9月提供]
Related ID:
NCBI:1026
ENSEMBL:ENSG00000124762
HGNC:1784
UNIPROT:P38936
OMIM:116899
Basic Information
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Exons
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MW (kDa)
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1026
10
3
10870 bp
18.12
17
2
17
32
CDKN1A Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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