PSMC1 (proteasome 26S subunit, ATPase 1)
- symbol:
- PSMC1
- locus group:
- protein-coding gene
- location:
- 14q32.11
- gene_family:
- AAA ATPases (ATPases associated with diverse cellular activities)|Proteasome (prosome, macropain) subunits
- alias symbol:
- S4|p56|RPT2
- alias name:
- None
- entrez id:
- 5700
- ensembl gene id:
- ENSG00000100764
- ucsc gene id:
- uc001xyf.4
- refseq accession:
- NM_002802
- hgnc_id:
- HGNC:9547
- approved reserved:
- 1995-11-27
PSMC1（Proteasome 26S Subunit, ATPase 1）是26S蛋白酶体的一个重要组成部分，属于AAA（ATPases Associated with diverse cellular Activities）ATP酶家族。该基因编码的蛋白质是19S调节颗粒的组成部分，负责识别、去折叠并将泛素化的蛋白质递送到20S核心颗粒中进行降解。PSMC1在维持细胞内蛋白质稳态（proteostasis）中起关键作用，通过调控错误折叠或受损蛋白质的清除来确保细胞正常功能。PSMC1主要作用位点在细胞质和细胞核中，参与多种细胞过程，包括细胞周期调控、DNA修复、信号转导和免疫应答。突变或功能异常可能导致蛋白质降解受阻，引发蛋白质毒性应激，与神经退行性疾病（如帕金森病和阿尔茨海默病）及某些癌症的发生有关。PSMC1过表达可能加速特定蛋白质的降解，影响细胞周期调控蛋白的稳定性，导致细胞增殖异常；而表达降低则可能导致错误蛋白质积累，引发细胞应激反应甚至凋亡。PSMC1属于PSMC基因家族，该家族成员（如PSMC1-6）均编码19S调节颗粒的ATP酶亚基，具有保守的AAA结构域，负责通过ATP水解提供能量以支持蛋白酶体的功能。这些基因在蛋白质质量控制系统中协同工作，确保细胞内蛋白质代谢的动态平衡。研究PSMC1的功能和调控机制有助于理解蛋白质降解途径在疾病中的作用，并为相关治疗策略的开发提供潜在靶点。
The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the ATPase subunits, a member of the triple-A family of ATPases which have a chaperone-like activity. This subunit and a 20S core alpha subunit interact specifically with the hepatitis B virus X protein, a protein critical to viral replication. This subunit also interacts with the adenovirus E1A protein and this interaction alters the activity of the proteasome. Finally, this subunit interacts with ataxin-7, suggesting a role for the proteasome in the development of spinocerebellar ataxia type 7, a progressive neurodegenerative disorder. [provided by RefSeq, Jul 2008]
的26S蛋白酶体是一个multicatalytic蛋白酶复合带的2复合物构成的高度有序的结构，20S芯和19S调节器。 20S的核心是由4个环，28个非相同亚基组成; 2环由7个α亚和2环由7个β亚基。的19S调节器是由一个基地，它包含6 ATP酶亚基和2个非ATP酶亚基，和一个盖，其中含有多达10个非ATP酶亚基的。蛋白酶在整个以高浓度在真核细胞和裂开的肽分布ATP /在非溶酶体途径泛素依赖的过程。修饰的蛋白酶，免疫蛋白酶，的一个重要功能是MHC I类肽的处理。该基因编码的ATP酶亚基之一，三A家族，其具有分子伴侣活性ATP酶的成员。此亚基和20S核心α亚基与乙型肝炎病毒X蛋白，病毒复制关键的蛋白质特异性地发生相互作用。这种亚单位也与腺病毒E1A蛋白相互作用和该相互作用改变了蛋白酶体的活性。最后，本亚基共济失调蛋白7相互作用，暗示在脊髓小脑性共济失调7型，进行性神经变性疾病发展的蛋白酶的作用。 [由RefSeq的，2008年7月提供]
基因本体信息
PSMC1基因（以及对应的蛋白质）的细胞分布位置：
- 质膜
- 细胞质
- 细胞外
- 高尔基体
- 囊泡
- 细胞骨架
- 内质网
- 细胞核
- 内体
- 溶酶体
- 线粒体
PSMC1基因的本体（GO）信息：
| 名称 |
|---|
| 3050 Proteasome [PATH:hsa03050] |
| 5203 Viral carcinogenesis [PATH:hsa05203] |
| 5169 Epstein-Barr virus infection [PATH:hsa05169] |
| 名称 |
|---|
| Activation of APC/C and APC/C:Cdc20 mediated degradation of mitotic proteins |
| Activation of NF-kappaB in B cells |
| Adaptive Immune System |
| Antigen processing-Cross presentation |
| Antigen processing: Ubiquitination & Proteasome degradation |
| APC:Cdc20 mediated degradation of cell cycle proteins prior to satisfation of the cell cycle checkpoint |
| APC/C-mediated degradation of cell cycle proteins |
| APC/C:Cdc20 mediated degradation of mitotic proteins |
| APC/C:Cdc20 mediated degradation of Securin |
| APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1 |
| Apoptosis |
| Assembly of the pre-replicative complex |
| Asymmetric localization of PCP proteins |
| AUF1 (hnRNP D0) destabilizes mRNA |
| Autodegradation of Cdh1 by Cdh1:APC/C |
| Autodegradation of the E3 ubiquitin ligase COP1 |
| beta-catenin independent WNT signaling |
| C-type lectin receptors (CLRs) |
| Cdc20:Phospho-APC/C mediated degradation of Cyclin A |
| CDK-mediated phosphorylation and removal of Cdc6 |
| CDT1 association with the CDC6:ORC:origin complex |
| Cell Cycle |
| Cell Cycle Checkpoints |
| Cell Cycle, Mitotic |
| Class I MHC mediated antigen processing & presentation |
| CLEC7A (Dectin-1) signaling |
| Cross-presentation of soluble exogenous antigens (endosomes) |
| Cyclin A:Cdk2-associated events at S phase entry |
| Cyclin E associated events during G1/S transition |
| Dectin-1 mediated noncanonical NF-kB signaling |
| degradation of AXIN |
| Degradation of beta-catenin by the destruction complex |
| degradation of DVL |
| Degradation of GLI1 by the proteasome |
| Degradation of GLI2 by the proteasome |
| Disease |
| Diseases of signal transduction |
| DNA Replication |
| DNA Replication Pre-Initiation |
| Downstream signaling events of B Cell Receptor (BCR) |
| ER-Phagosome pathway |
| G1/S DNA Damage Checkpoints |
| G1/S Transition |
| Gene Expression |
| GLI3 is processed to GLI3R by the proteasome |
| Hedgehog 'off' state |
| Hedgehog 'on' state |
| Hedgehog ligand biogenesis |
| Hh mutants abrogate ligand secretion |
| Hh mutants that don't undergo autocatalytic processing are degraded by ERAD |
| HIV Infection |
| Host Interactions of HIV factors |
| Immune System |
| Infectious disease |
| Innate Immune System |
| M Phase |
| M/G1 Transition |
| Metabolism of amino acids and derivatives |
| Mitotic Anaphase |
| Mitotic G1-G1/S phases |
| Mitotic Metaphase and Anaphase |
| Orc1 removal from chromatin |
| p53-Dependent G1 DNA Damage Response |
| p53-Dependent G1/S DNA damage checkpoint |
| p53-Independent DNA Damage Response |
| p53-Independent G1/S DNA damage checkpoint |
| PCP/CE pathway |
| Programmed Cell Death |
| Regulation of activated PAK-2p34 by proteasome mediated degradation |
| Regulation of APC/C activators between G1/S and early anaphase |
| Regulation of Apoptosis |
| Regulation of DNA replication |
| Regulation of mitotic cell cycle |
| Regulation of mRNA stability by proteins that bind AU-rich elements |
| Regulation of ornithine decarboxylase (ODC) |
| Removal of licensing factors from origins |
| S Phase |
| SCF-beta-TrCP mediated degradation of Emi1 |
| SCF(Skp2)-mediated degradation of p27/p21 |
| Separation of Sister Chromatids |
| Signaling by Hedgehog |
| Signaling by the B Cell Receptor (BCR) |
| Signaling by Wnt |
| Stabilization of p53 |
| Switching of origins to a post-replicative state |
| Synthesis of DNA |
| TCF dependent signaling in response to WNT |
| Ubiquitin Mediated Degradation of Phosphorylated Cdc25A |
| Ubiquitin-dependent degradation of Cyclin D |
| Ubiquitin-dependent degradation of Cyclin D1 |
| Vif-mediated degradation of APOBEC3G |
| Vpu mediated degradation of CD4 |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Neurodegenerative Disorders | 0.00272435 | 1 | 0 | LHGDN |
| Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
| Myopia | 0.000271442 | 1 | 0 | BeFree |
| Ataxia Telangiectasia | 0.000271442 | 1 | 0 | BeFree |
| Angiomyolipoma | 0.000271442 | 1 | 0 | BeFree |
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