RBX1(Ring-Box 1)是一个关键的泛素连接酶复合物组分,属于Cullin-RING泛素连接酶(CRL)家族的核心成员。它编码的蛋白质含有RING结构域,能够与Cullin蛋白结合形成CRL复合物的催化核心,参与蛋白质的泛素化修饰,进而调控靶蛋白的降解。RBX1在细胞周期调控、DNA损伤修复、信号转导等过程中发挥重要作用,尤其在维持基因组稳定性方面至关重要。RBX1通过促进细胞周期蛋白(如Cyclin D1、p27等)的泛素化降解,影响细胞增殖与分化。若RBX1发生功能丧失性突变,可能导致CRL复合物活性下降,造成靶蛋白异常积累,引发细胞周期紊乱、DNA修复缺陷,甚至与肿瘤发生相关(如乳腺癌、肺癌等)。相反,RBX1过表达可能增强CRL介导的蛋白降解,导致抑癌蛋白(如p53、p21)过度降解,促进肿瘤进展。此外,RBX1还参与HIF-1α的氧依赖性降解,影响缺氧应答通路。RBX1属于RING蛋白家族,该家族成员均含有保守的RING结构域,具有E3泛素连接酶活性,通过招募E2泛素结合酶催化底物泛素化。家族共性包括参与蛋白质稳态调控、应激响应及细胞命运决定等。研究表明,RBX1表达异常与神经退行性疾病、心血管疾病也存在潜在关联,其抑制剂(如MLN4924)正在作为抗肿瘤药物研发靶点。
This locus encodes a RING finger-like domain-containing protein. The encoded protein interacts with cullin proteins and likely plays a role in ubiquitination processes necessary for cell cycle progression. This protein may also affect protein turnover. Related pseudogenes exist on chromosomes 2 and 5.[provided by RefSeq, Sep 2010]
这座编码RING指状结构域的蛋白。所编码的蛋白质与滞蛋白相互作用并可能起着必要为细胞周期进程的泛素化过程中发挥作用。这种蛋白也可能会影响蛋白质周转。相关假的[由RefSeq的,2010年9月提供]染色体2和5存在
RBX1基因(以及对应的蛋白质)的细胞分布位置:
RBX1基因的本体(GO)信息:
名称 |
---|
4141 Protein processing in endoplasmic reticulum [PATH:hsa04141] |
4120 Ubiquitin mediated proteolysis [PATH:hsa04120] |
3420 Nucleotide excision repair [PATH:hsa03420] |
4310 Wnt signaling pathway [PATH:hsa04310] |
4350 TGF-beta signaling pathway [PATH:hsa04350] |
4066 HIF-1 signaling pathway [PATH:hsa04066] |
4110 Cell cycle [PATH:hsa04110] |
4114 Oocyte meiosis [PATH:hsa04114] |
4710 Circadian rhythm [PATH:hsa04710] |
5200 Pathways in cancer [PATH:hsa05200] |
5211 Renal cell carcinoma [PATH:hsa05211] |
名称 |
---|
Adaptive Immune System |
Antigen processing: Ubiquitination & Proteasome degradation |
Cellular response to hypoxia |
Cellular responses to stress |
Class I MHC mediated antigen processing & presentation |
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants |
Constitutive Signaling by NOTCH1 PEST Domain Mutants |
Cytokine Signaling in Immune system |
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 Damage Bypass |
DNA Repair |
FBXW7 Mutants and NOTCH1 in Cancer |
GLI3 is processed to GLI3R by the proteasome |
Hedgehog 'off' state |
Hedgehog 'on' state |
HIV Infection |
Host Interactions of HIV factors |
Immune System |
Infectious disease |
Interleukin-1 signaling |
Loss of Function of FBXW7 in Cancer and NOTCH1 Signaling |
NOTCH1 Intracellular Domain Regulates Transcription |
Nuclear signaling by ERBB4 |
Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha |
Prolactin receptor signaling |
Recognition of DNA damage by PCNA-containing replication complex |
Regulation of Hypoxia-inducible Factor (HIF) by oxygen |
Signaling by ERBB4 |
Signaling by Hedgehog |
Signaling by Interleukins |
Signaling by NOTCH |
Signaling by NOTCH1 |
Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer |
Signaling by NOTCH1 in Cancer |
Signaling by NOTCH1 PEST Domain Mutants in Cancer |
Signaling by Wnt |
TCF dependent signaling in response to WNT |
Vif-mediated degradation of APOBEC3G |
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Stevens-Johnson Syndrome | 0.12 | 1 | 0 | CTD_human |
Stomach Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Neoplasm Metastasis | 0.000542884 | 2 | 0 | BeFree |
Renal Cell Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of stomach | 0.000542884 | 2 | 0 | BeFree |
Ovarian Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of liver | 0.000271442 | 1 | 0 | BeFree |
Vascular Diseases | 0.000271442 | 1 | 0 | BeFree |
Squamous cell carcinoma of the head and neck | 0.000271442 | 1 | 0 | BeFree |
Stomach Neoplasms | 0.000271442 | 1 | 0 | BeFree |
山东省济南市章丘区文博路2号 齐鲁师范学院 genelibs生信实验室
山东省济南市高新区舜华路750号大学科技园北区F座4单元2楼
电话: 0531-88819269
E-mail: product@genelibs.com
关注微信订阅号,实时查看信息,关注医学生物学动态。