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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
RPRD1A - Regulation Of Nuclear Pre-mRNA Domain Containing 1A
Alias:
P15RS
HsT3101
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个细胞周期和转录调控蛋白。编码的蛋白质与细胞周期抑制剂细胞周期依赖性蛋白激酶4抑制剂B相互作用,可能作为G(1)/S期进展的负调控因子。这个蛋白质还可以与调控核前mRNA结构域含有蛋白1B形成同源和异源二聚体,形成一个与RNA聚合酶II亚基B1的C端结构域相互作用的支架,并调控转录的几个方面。交替剪接导致多个转录变异体。这个基因的假基因位于染色体16上。[由RefSeq提供,2014年12月]
Related ID:
NCBI:55197
ENSEMBL:ENSG00000141425
HGNC:25560
UNIPROT:Q96P16
OMIM:610347
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
55197
4
7
77736 bp
35.72
2
--
2
12
RPRD1A 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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References Literature
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