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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
WRAP53 - WD Repeat Containing Antisense To TP53
Alias:
DKCB3
TCAB1
WDR79
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码端粒酶全酶复合物的一个基本成分,这是一个在端粒合成中必需的核糖核蛋白复合物。这个蛋白质在Cajal体中丰富,Cajal体是RNP加工的重要核位点,对于端粒酶功能至关重要。它与其他活性端粒酶组件,如dyskerin、TERT和TERC相互作用,还与参与修饰剪接RNA的小Cajal体RNA(scaRNA)相互作用。这个mRNA也作为p53反义转录本发挥作用,通过靶向p53 mRNA的5'非翻译区来调节内源p53 mRNA水平和进一步诱导p53蛋白。已经发现这个基因的替代剪接转录变异体,它们只在5'UTR中不同。[RefSeq,2011年3月提供]
Related ID:
NCBI:55135
ENSEMBL:ENSG00000141499
HGNC:25522
UNIPROT:Q9BUR4
OMIM:612661
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
55135
4
11
17432 bp
59.31
417
3
3
31
WRAP53 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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