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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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PSMD2 - Proteasome 26S Subunit Ubiquitin Receptor, Non-ATPase 2
Alias:
S2
P97
RPN1
TRAP2
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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,通过ATP/泛素依赖的过程切割肽。修饰过的蛋白酶体,即免疫蛋白酶体,在加工I类MHC肽中起基本作用。这个基因编码19S调节盖部的非ATP酶亚基之一。除了参与蛋白酶体功能外,这个亚基还可能参与TNF信号通路,因为它与肿瘤坏死因子1型受体相互作用。在染色体1上发现了一个假基因。可变剪接导致这个基因的多个转录变异。[RefSeq,2013年7月提供]
Related ID:
NCBI:5708
ENSEMBL:ENSG00000175166
HGNC:9559
UNIPROT:Q13200
OMIM:606223
Basic Information
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Length
MW (kDa)
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5708
3
21
9810 bp
100.20
25
--
4
24
PSMD2 Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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