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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
RPA1 - Replication Protein A1
Alias:
HSSB
RF-A
RP-A
REPA1
RPA70
MST075
PFBMFT6
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码异源三聚体复制蛋白A(RPA)复合物的主要亚基,该复合物结合单链DNA(ssDNA),形成一个在DNA代谢中扮演重要角色的核蛋白复合物,参与DNA复制、修复、重组、端粒维持,并通过激活Ataxia Telangiectasia和Rad3相关蛋白(ATR)激酶协调细胞对DNA损伤的反应。该核蛋白复合物保护单链DNA免受核酸酶的降解,防止形成会干扰修复的二级结构,并协调不同基因组维护因子的招募和离去。这个亚基含有四个寡核苷酸/寡糖结合(OB)结构域,尽管大部分ssDNA结合发生在其中的两个结构域中。异源三聚体复合物具有两种不同的ssDNA结合模式,由所利用的ssDNA结合结构域决定的高亲和力和低亲和力模式。不同的结合模式在结合的DNA长度和与之相互作用的蛋白质方面有所不同,从而在调节不同的基因组维护途径中发挥作用。[由RefSeq,2017年9月提供]
Related ID:
NCBI:6117
ENSEMBL:ENSG00000132383
HGNC:10289
UNIPROT:P27694
OMIM:179835
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
6117
3
17
70078 bp
68.14
28
1
5
44
RPA1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
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