PSMB1 (proteasome 20S subunit beta 1)
- symbol:
- PSMB1
- locus group:
- protein-coding gene
- location:
- 6q27
- gene_family:
- Proteasome (prosome, macropain) subunits
- alias symbol:
- PMSB1|HC5
- alias name:
- proteasome subunit β6
- entrez id:
- 5689
- ensembl gene id:
- ENSG00000008018
- ucsc gene id:
- uc011ehe.3
- refseq accession:
- NM_002793
- hgnc_id:
- HGNC:9537
- approved reserved:
- 1995-05-03
PSMB1（Proteasome 20S Subunit Beta 1）是20S蛋白酶体的一个核心组成部分，属于蛋白酶体β亚基家族。蛋白酶体是一种大型蛋白质复合物，主要负责细胞内蛋白质的降解，特别是通过泛素-蛋白酶体途径清除错误折叠或受损的蛋白质，以及调控细胞周期、信号传导和免疫反应等重要过程。PSMB1作为蛋白酶体的催化亚基之一，具有肽酶活性，能够切割蛋白质底物，帮助维持细胞内蛋白质稳态。PSMB1主要在细胞质和细胞核中表达，其功能依赖于与其他蛋白酶体亚基的组装形成完整的20S核心颗粒。PSMB1的突变可能影响蛋白酶体的组装或活性，导致蛋白质降解异常，进而引发神经退行性疾病（如阿尔茨海默病或帕金森病）、癌症或自身免疫性疾病。研究表明，PSMB1的过表达可能与某些肿瘤的进展相关，因为过度活跃的蛋白酶体活性可能促进癌细胞的增殖和存活。相反，PSMB1表达降低可能导致蛋白质毒性积累，引发细胞应激甚至凋亡。PSMB1属于蛋白酶体β亚基基因家族，该家族成员（如PSMB2-PSMB10）在结构上具有高度保守性，均参与蛋白酶体的催化核心形成，但各自具有不同的底物特异性和调控机制。这一家族的共性在于它们共同构成20S蛋白酶体的催化腔，负责蛋白质的切割，并在细胞稳态、免疫应答（如抗原呈递）和氧化应激反应中发挥关键作用。研究PSMB1及其家族成员有助于理解蛋白质降解机制的调控，并为相关疾病的治疗提供潜在靶点。
The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure 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. 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 a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. This gene is tightly linked to the TBP (TATA-binding protein) gene in human and in mouse, and is transcribed in the opposite orientation in both species. [provided by RefSeq, Jul 2008]
蛋白酶体是一个multicatalytic蛋白酶复杂与高度有序的环形20S核心结构。核心结构是由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。蛋白酶在整个真核细胞中分布以高浓度和裂开的肽在一个ATP /泛素依赖的过程在非溶酶体途径。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。该基因编码的蛋白酶B型家族的成员，也称为T1B家族，这是一个20S核心β亚基。这种基因是紧密相连的TBP（TATA结合蛋白）基因在人类和小鼠，并在这两个物种的相反方向转录。 [由RefSeq的，2008年7月提供]
基因本体信息
PSMB1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
PSMB1基因的本体（GO）信息：
| 名称 |
|---|
| 3050 Proteasome [PATH:hsa03050] |
| 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 |
| Peripheral Neuropathy | 0.120271442 | 1 | 0 | BeFree_CTD_human |
| Acute Coronary Syndrome | 0.12 | 1 | 0 | CTD_human |
| Degenerative polyarthritis | 0.12 | 1 | 0 | CTD_human |
| Diabetes Mellitus, Insulin-Dependent | 0.002367032 | 1 | 0 | GAD |
| Carcinoma of bladder | 0.000271442 | 1 | 0 | BeFree |
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