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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
RFC5 - Replication Factor C Subunit 5
Alias:
RFC36
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码复制因子C复合物中最小的亚基,该复合物由五个不同的亚基(140、40、38、37和36千道尔顿)组成,并且是DNA复制所必需的。这个亚基与增殖细胞核抗原的C端区域相互作用,并在S期期间打开并将增殖细胞核抗原加载到DNA上。它是AAA+(与各种细胞活动相关的ATP酶)ATP酶家族的成员,并与38和40千道尔顿亚基形成核心复合物,该复合物具有依赖于DNA的ATP酶活性。在染色体9上已经发现了相关的假基因。选择性剪接导致多个转录变异体。[由RefSeq,2016年11月提供]
Related ID:
NCBI:5985
ENSEMBL:ENSG00000111445
HGNC:9973
UNIPROT:P40937
OMIM:600407
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5985
6
11
24746 bp
38.50
16
--
3
9
RFC5 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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Transcript
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Length(aa)
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* This data comes from NCBI.
Gene Expression
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Status
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Link
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References Literature
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