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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
NUP98 - Nucleoporin 98 And 96 Precursor
Alias:
ADIR2
NUP96
NUP196
Nup98-96
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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(NPCs)在细胞核与细胞质之间调控大分子物质的运输,由许多多肽亚基组成,其中许多属于核孔蛋白家族。该基因属于核孔蛋白基因家族,编码一个186kDa的前体蛋白,该蛋白经过自体蛋白酶切裂解生成一个98kDa的核孔蛋白和一个96kDa的核孔蛋白。98kDa的核孔蛋白包含一个Gly-Leu-Phe-Gly(GLGF)重复结构域,并参与许多细胞过程,包括核输入、核输出、有丝分裂进程和基因表达的调控。96kDa的核孔蛋白是NPC的支架成分。蛋白酶切裂对蛋白质定位到NPC是重要的。在不同类型的白血病中,已经观察到了该基因与其他许多伴侣基因之间的易位。重排通常导致嵌合蛋白,其N端GLGF结构域来自该基因,C端来自伴侣基因。可选的剪接导致编码不同异构体的多种转录变异体,至少其中两种是经过蛋白酶处理的。一些变异体缺乏编码96kDa核孔蛋白的区域。[RefSeq,2016年2月提供]
Related ID:
NCBI:4928
ENSEMBL:ENSG00000110713
HGNC:8068
UNIPROT:P52948
OMIM:601021
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
4928
9
33
122545 bp
197.58
71
1
4
52
NUP98 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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