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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
NXF1 - Nuclear RNA Export Factor 1
Alias:
TAP
MEX67
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Description
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因是核RNA输出因子基因家族的一员。这个家族的共同特征是一个非规范RNP型RNA结合结构域(RBD),4个富含亮氨酸的重复序列(LRRs),一个允许与NTF2相关导出蛋白-1(NXT1)异二聚化的核运输因子2(NTF2)样结构域,以及一个介导与核孔蛋白相互作用的泛素相关结构域。LRR和NTF2样结构域是导出活性所必需的。可变剪接似乎是这种基因家族中的一种常见机制。这个基因编码的蛋白质在细胞核和细胞质之间穿梭,并在体内与poly(A)+ RNA结合。它是酵母蛋白Mex67p的脊椎动物同源物。这个编码的蛋白质克服了D型逆转录病毒的CTE(组成型运输元件)RNA存在时引起的mRNA导出阻断。可变剪接导致多个转录变异体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:10482
ENSEMBL:ENSG00000162231
HGNC:8071
UNIPROT:Q9UBU9
OMIM:602647
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
10482
5
21
13311 bp
70.18
11
--
4
45
NXF1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
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No data available
Transcripts & Proteins
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Transcript
Length(nt)
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* This data comes from NCBI.
Gene Expression
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Name
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References Literature
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