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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
PSMD12 - Proteasome 26S Subunit, Non-ATPase 12
Alias:
p55
Rpn5
STISS
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
26S蛋白酶体是一种多催化蛋白酶复合物,具有高度有序的结构,由2个复合物组成:一个20S核心和一个19S调节器。20S核心由4个环组成,每个环由28个非相同亚基组成;其中2个环由7个α亚基组成,另外2个环由7个β亚基组成。19S调节器由一个基部和一个盖部组成,基部含有6个ATP酶亚基和2个非ATP酶亚基,盖部含有多达10个非ATP酶亚基。蛋白酶体在真核细胞的各个部位以高浓度分布,并在非溶酶途径中,在ATP/泛素依赖的过程中切割肽。修饰过的蛋白酶体,即免疫蛋白酶体,在处理I类MHC肽方面具有基本功能。这个基因编码19S调节器的非ATP酶亚基。在这个基因上已经发现了一个假基因,位于染色体3上。已经发现这个基因有不同的剪接转录变异体,编码不同的异构体。[RefSeq,2015年10月提供]
Related ID:
NCBI:5718
ENSEMBL:ENSG00000197170
HGNC:9557
UNIPROT:O00232
OMIM:604450
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
5718
4
11
28662 bp
52.90
66
3
3
22
PSMD12 Genetics information (-)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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