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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
RAD17 - RAD17 Checkpoint Clamp Loader Component
Alias:
CCYC
R24L
RAD24
HRAD17
RAD17SP
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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与Schizosaccharomyces pombe rad17基因产物高度相似,后者是一个细胞周期检查点基因,在响应DNA损伤时,需要细胞周期停滞和DNA损伤修复。这个蛋白质与DNA复制因子C(RFC)具有强烈的相似性,并且可以与RFCs形成复合物。在DNA损伤之前,这个蛋白质与染色质结合,并在损伤后被检查点激酶ATR磷酸化。这个蛋白质在DNA损伤后招募RAD1-RAD9-HUS1检查点蛋白复合物到染色质上,这可能对其磷酸化是必需的。这个蛋白质的磷酸化对于DNA损伤诱导的细胞周期G2期停滞是必需的,被认为是在DNA受损细胞中的检查点信号传递过程中的关键早期事件。已经报道了这个基因的多个可变剪接转录变异体,它们编码四种不同的蛋白质异构体。已经发现了位于染色体7和13上的两个假基因。[RefSeq,2013年7月提供]
Related ID:
NCBI:5884
ENSEMBL:ENSG00000152942
HGNC:9807
UNIPROT:O75943
OMIM:603139
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5884
17
19
45509 bp
77.06
23
--
2
31
RAD17 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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