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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
NOP10 - NOP10 Ribonucleoprotein
Alias:
DKCB1
NOLA3
NOP10P
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因是H/ACA小核仁核糖核蛋白(snoRNPs)基因家族的成员。snoRNPs参与rRNA加工和修饰的各个方面,并被分为两个家族:C/D和H/ACA。H/ACA snoRNPs还包括DKC1、NOLA1和NOLA2蛋白。这四个H/ACA snoRNP蛋白定位在核仁的密集原纤维成分和核中的Cajal体。如果任何一个蛋白被耗尽,18S rRNA的生成和rRNA的伪尿苷酸化都会受到损害。这四个H/ACA snoRNP蛋白也是端粒酶复合物的成分。这个基因编码一个与酿酒酵母Nop10p相关的蛋白。[由RefSeq,2008年7月提供]
Related ID:
NCBI:55505
ENSEMBL:ENSG00000182117
HGNC:14378
UNIPROT:Q9NPE3
OMIM:606471
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
55505
1
2
1418 bp
7.71
69
4
5
10
NOP10 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
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No data available
Transcripts & Proteins
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Transcript
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Protein
Length(aa)
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Name
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Status
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Link
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References Literature
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