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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
NUP188 - Nucleoporin 188
Alias:
hNup188
KIAA0169
SANDSTEF
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
核孔复合体(NPC)位于核膜上,形成一个调控蛋白质和RNA在细胞质和核质之间流动的大门。NPC由大约30种不同的蛋白质组成,统称为核孔蛋白。核孔蛋白是孔复合物特异性的糖蛋白,通常具有面向细胞质的O-连接的N-乙酰葡萄糖残基和多个五肽序列XFXFG的重复。然而,这个基因编码的核孔蛋白不含大多数脊椎动物核孔蛋白中常见的FG重复序列。这个核孔蛋白被认为形成了核孔中央通道的支架的一部分。[RefSeq,2013年1月提供]
Related ID:
NCBI:23511
ENSEMBL:ENSG00000095319
HGNC:17859
UNIPROT:Q5SRE5
OMIM:615587
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
23511
1
44
59398 bp
196.04
178
1
1
21
NUP188 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
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Transcripts & Proteins
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Transcript
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CDS(bp)
Protein
Length(aa)
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Name
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References Literature
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