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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
CCNDBP1 - Cyclin D1 Binding Protein 1
Alias:
HHM
DIP1
GCIP
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因通过其基因产物与Grap2相互作用而被鉴定,Grap2是白细胞特异性的适配器蛋白,对免疫细胞信号传导非常重要。这个基因编码的蛋白质被证明与细胞周期蛋白D相互作用。据报道,将此基因转染到细胞中可以减少Rb基因产物被细胞周期蛋白D依赖性蛋白激酶磷酸化,并抑制E2F1介导的转录活性。该蛋白质还被发现与螺旋-环-螺旋蛋白E12相互作用,被认为是一种肝脏特异性基因表达的负调控因子。已经为这个基因发现了几种可变剪接的变异体。[由RefSeq,2009年4月提供]
Related ID:
NCBI:23582
ENSEMBL:ENSG00000166946
HGNC:1587
UNIPROT:O95273
OMIM:607089
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
23582
2
11
11775 bp
40.26
10
--
5
12
CCNDBP1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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