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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
RNF7 - Ring Finger Protein 7
Alias:
SAG
ROC2
rbx2
CKBBP1
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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是一种高度保守的环指蛋白。它是SKP1-cullin/CDC53-F盒蛋白泛素连接酶的重要组成部分,这些连接酶是蛋白质降解机制的一部分,对于细胞周期进展和信号传导非常重要。这个蛋白质与酪蛋白激酶II(CSNK2A1/CKII)相互作用,并作为其底物。已经表明,CSNK2A1对这个蛋白质的磷酸化可以促进IkappaBalpha(CHUK/IKK-alpha/IKBKA)和p27Kip1(CDKN1B)的降解。已经报道了一种替代剪接转录变异体,编码不同的异构体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:9616
ENSEMBL:ENSG00000114125
HGNC:10070
UNIPROT:Q9UBF6
OMIM:603863
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
9616
3
3
9263 bp
12.68
2
--
6
12
RNF7 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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