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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
GLE1 - GLE1 RNA Export Mediator
Alias:
LCCS
CAAHC
CAAHD
GLE1L
LCCS1
hGLE1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个预测的75千道尔顿多肽,具有高度的序列和结构与酵母Gle1p同源性,Gle1p是一种具有丰富亮氨酸的核输出序列的核蛋白,对poly(A)+RNA输出是必需的。在HeLa细胞中通过微注射抗GLE1L抗体抑制人GLE1L,从而抑制poly(A)+RNA的输出。免疫荧光研究表明,GLE1L定位在核孔复合体上。这个定位表明GLE1L可能作用于将成熟的信使RNA从核输出到细胞质的终端步骤。已经发现这个基因的两个可变剪接转录变异体,编码不同的异构体。[RefSeq,2008年7月提供]
Related ID:
NCBI:2733
ENSEMBL:ENSG00000119392
HGNC:4315
UNIPROT:Q53GS7
OMIM:603371
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
2733
10
16
37597 bp
79.84
423
3
3
12
GLE1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
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Interactions
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Acting
Regulation
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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