CDKN1B基因编码的蛋白是细胞周期蛋白依赖性激酶抑制剂1B(也称为p27或Kip1),属于CIP/KIP家族(CDK抑制蛋白家族)。这个基因家族包括CDKN1A(p21)、CDKN1B(p27)和CDKN1C(p57),它们共同的特点是能够结合并抑制细胞周期蛋白依赖性激酶(CDKs),从而调控细胞周期进程,特别是在G1期到S期的过渡中起关键作用。CDKN1B的主要功能是通过抑制CDK2/cyclin E和CDK2/cyclin A复合物的活性来阻止细胞周期进程,从而控制细胞增殖。它在多种组织中广泛表达,尤其在静止或分化细胞中表达较高。CDKN1B的突变或表达异常与多种疾病相关,特别是癌症。例如,CDKN1B的功能丧失性突变或表达降低会导致细胞周期失控,促进肿瘤发生,已在乳腺癌、前列腺癌、结肠癌等多种癌症中观察到CDKN1B的表达下调或缺失。此外,CDKN1B的过表达通常与细胞周期停滞和细胞衰老相关,可能在某些情况下抑制肿瘤发展。CDKN1B的表达受多种信号通路调控,包括TGF-β、PI3K/AKT和FOXO等。AKT可通过磷酸化CDKN1B促进其降解,从而解除其对细胞周期的抑制。CDKN1B还与细胞分化、凋亡和迁移等过程有关。在免疫系统中,CDKN1B对T细胞的稳态和功能有重要影响,其缺失可能导致自身免疫性疾病。CDKN1B基因的遗传变异也与一些内分泌疾病相关,如多发性内分泌腺瘤综合征(MEN)。总的来说,CDKN1B是一个关键的细胞周期调控因子,其表达水平的异常会显著影响细胞增殖和机体稳态,与多种疾病特别是癌症的发生发展密切相关。
This gene encodes a cyclin-dependent kinase inhibitor, which shares a limited similarity with CDK inhibitor CDKN1A/p21. The encoded protein binds to and prevents the activation of cyclin E-CDK2 or cyclin D-CDK4 complexes, and thus controls the cell cycle progression at G1. The degradation of this protein, which is triggered by its CDK dependent phosphorylation and subsequent ubiquitination by SCF complexes, is required for the cellular transition from quiescence to the proliferative state. Mutations in this gene are associated with multiple endocrine neoplasia type IV (MEN4). [provided by RefSeq, Apr 2014]
此基因编码细胞周期蛋白依赖性激酶抑制剂,这股用CDK抑制剂CDKN1A / p21的一个有限的相似性。所编码的蛋白质结合并阻止细胞周期蛋白E-CDK2或细胞周期蛋白D-CDK4复合物的活化,从而控制在G1中的细胞周期进展。该蛋白质,其通过它的CDK依赖性磷酸化并通过SCF复合物随后泛素化引发的劣化,需要用于从静止到增殖状态的细胞迁移。在这种基因突变与多发性内分泌腺瘤IV型(MEN4)相关联。 [由RefSeq的,2014年4月提供]
CDKN1B基因(以及对应的蛋白质)的细胞分布位置:
CDKN1B基因的本体(GO)信息:
| 名称 |
|---|
| 4012 ErbB signaling pathway [PATH:hsa04012] |
| 4066 HIF-1 signaling pathway [PATH:hsa04066] |
| 4068 FoxO signaling pathway [PATH:hsa04068] |
| 4151 PI3K-Akt signaling pathway [PATH:hsa04151] |
| 4110 Cell cycle [PATH:hsa04110] |
| 5200 Pathways in cancer [PATH:hsa05200] |
| 5202 Transcriptional misregulation in cancers [PATH:hsa05202] |
| 5206 MicroRNAs in cancer [PATH:hsa05206] |
| 5203 Viral carcinogenesis [PATH:hsa05203] |
| 5220 Chronic myeloid leukemia [PATH:hsa05220] |
| 5215 Prostate cancer [PATH:hsa05215] |
| 5222 Small cell lung cancer [PATH:hsa05222] |
| 5162 Measles [PATH:hsa05162] |
| 5161 Hepatitis B [PATH:hsa05161] |
| 5169 Epstein-Barr virus infection [PATH:hsa05169] |
| 名称 |
|---|
| Adaptive Immune System |
| AKT phosphorylates targets in the cytosol |
| Cell Cycle |
| Cell Cycle Checkpoints |
| Cell Cycle, Mitotic |
| Cellular responses to stress |
| Cellular Senescence |
| Constitutive Signaling by AKT1 E17K in Cancer |
| Cyclin A:Cdk2-associated events at S phase entry |
| Cyclin D associated events in G1 |
| Cyclin E associated events during G1/S transition |
| DAP12 interactions |
| DAP12 signaling |
| Disease |
| Diseases of signal transduction |
| DNA Damage/Telomere Stress Induced Senescence |
| DNA Replication |
| Downstream signal transduction |
| Downstream signaling events of B Cell Receptor (BCR) |
| Downstream signaling of activated FGFR1 |
| Downstream signaling of activated FGFR2 |
| Downstream signaling of activated FGFR3 |
| Downstream signaling of activated FGFR4 |
| Fc epsilon receptor (FCERI) signaling |
| G1 Phase |
| G1/S DNA Damage Checkpoints |
| G1/S Transition |
| GAB1 signalosome |
| Immune System |
| Innate Immune System |
| Mitotic G1-G1/S phases |
| NGF signalling via TRKA from the plasma membrane |
| Orc1 removal from chromatin |
| p53-Dependent G1 DNA Damage Response |
| p53-Dependent G1/S DNA damage checkpoint |
| PI-3K cascade:FGFR1 |
| PI-3K cascade:FGFR2 |
| PI-3K cascade:FGFR3 |
| PI-3K cascade:FGFR4 |
| PI3K events in ERBB2 signaling |
| PI3K events in ERBB4 signaling |
| PI3K/AKT activation |
| PI3K/AKT Signaling in Cancer |
| PIP3 activates AKT signaling |
| Regulation of DNA replication |
| Removal of licensing factors from origins |
| RHO GTPase Effectors |
| RHO GTPases activate CIT |
| Role of LAT2/NTAL/LAB on calcium mobilization |
| S Phase |
| SCF(Skp2)-mediated degradation of p27/p21 |
| Senescence-Associated Secretory Phenotype (SASP) |
| Signal Transduction |
| Signaling by EGFR |
| Signaling by ERBB2 |
| Signaling by ERBB4 |
| Signaling by FGFR |
| Signaling by FGFR1 |
| Signaling by FGFR2 |
| Signaling by FGFR3 |
| Signaling by FGFR4 |
| Signaling by PDGF |
| Signaling by Rho GTPases |
| Signaling by SCF-KIT |
| Signaling by the B Cell Receptor (BCR) |
| Signalling by NGF |
| Switching of origins to a post-replicative state |
| Synthesis of DNA |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Multiple Endocrine Neoplasia, Type IV | 0.36 | 0 | 6 | CLINVAR_CTD_human_ORPHANET |
| Neuroendocrine Tumors | 0.243267234 | 3 | 3 | BeFree_CLINVAR_CTD_human_LHGDN |
| Mammary Neoplasms | 0.158955229 | 18 | 0 | BeFree_CTD_human_LHGDN |
| Prostatic Neoplasms | 0.153692094 | 18 | 0 | BeFree_CTD_human_GAD_LHGDN |
| Liver carcinoma | 0.145770622 | 34 | 0 | BeFree_CTD_human_GAD_LHGDN |
| Multiple Endocrine Neoplasia Type 1 | 0.133268314 | 17 | 0 | BeFree_GAD_ORPHANET |
| Pituitary Neoplasms | 0.128620127 | 16 | 0 | BeFree_CTD_human_GAD_LHGDN |
| Prostatic Intraepithelial Neoplasias | 0.123267234 | 3 | 0 | BeFree_CTD_human_LHGDN |
| ovarian neoplasm | 0.123267234 | 4 | 0 | BeFree_CTD_human_LHGDN |
| Lung Neoplasms | 0.122995792 | 5 | 0 | BeFree_CTD_human_LHGDN |
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