PPP2R1A是蛋白磷酸酶2A(PP2A)的一个调节亚基,属于PPP2R1基因家族。PP2A是一种重要的丝氨酸/苏氨酸蛋白磷酸酶,参与多种细胞过程,包括细胞周期调控、信号转导、代谢和凋亡。PPP2R1A编码的Aα亚基是PP2A全酶的核心支架结构,负责连接催化亚基(C亚基)和调节亚基(B亚基),从而形成具有不同底物特异性和功能的PP2A全酶复合物。PPP2R1A在维持细胞稳态中起关键作用,其突变或表达异常与多种疾病相关,尤其是癌症。例如,PPP2R1A的某些突变(如E64D、R183W)会导致PP2A功能丧失,进而促进细胞增殖和肿瘤发生,这些突变在子宫内膜癌、卵巢癌和肺癌中较为常见。PPP2R1A的过表达可能增强PP2A的抑癌功能,抑制肿瘤生长,而降低表达则可能导致PP2A活性下降,增加细胞异常增殖的风险。此外,PPP2R1A还参与调控Wnt、MAPK和PI3K/AKT等信号通路,影响细胞分化、迁移和存活。PPP2R1基因家族包括PPP2R1A和PPP2R1B,两者编码的Aα和Aβ亚基结构相似,但在组织和发育阶段的表达模式不同。PPP2R1A突变还与神经发育障碍和心血管疾病有关,突显其在多种生理和病理过程中的重要性。
This gene encodes a constant regulatory subunit of protein phosphatase 2. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The constant regulatory subunit A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit. This gene encodes an alpha isoform of the constant regulatory subunit A. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010]
该基因编码的蛋白磷酸酶的恒定调节亚基2.蛋白质磷酸酶2是四大丝氨酸/苏氨酸磷酸酶的之一,它是在细胞生长和分裂的阴性对照牵连。它由一个共同的异核心酶,它是由一个催化亚基和一个常数调节亚基,即相关联的各种调节亚基组成。常数调节亚基一个用作脚手架分子坐标催化亚基和可变调节B亚单位的组装。该基因编码的常数调节亚基A.备选剪接转录变体已经描述的α-同种型。 [由RefSeq的,2010年4月提供]
PPP2R1A基因(以及对应的蛋白质)的细胞分布位置:
PPP2R1A基因的本体(GO)信息:
| 名称 |
|---|
| 3015 mRNA surveillance pathway [PATH:hsa03015] |
| 4350 TGF-beta signaling pathway [PATH:hsa04350] |
| 4390 Hippo signaling pathway [PATH:hsa04390] |
| 4071 Sphingolipid signaling pathway [PATH:hsa04071] |
| 4151 PI3K-Akt signaling pathway [PATH:hsa04151] |
| 4152 AMPK signaling pathway [PATH:hsa04152] |
| 4114 Oocyte meiosis [PATH:hsa04114] |
| 4530 Tight junction [PATH:hsa04530] |
| 4261 Adrenergic signaling in cardiomyocytes [PATH:hsa04261] |
| 4728 Dopaminergic synapse [PATH:hsa04728] |
| 4730 Long-term depression [PATH:hsa04730] |
| 5160 Hepatitis C [PATH:hsa05160] |
| 5142 Chagas disease (American trypanosomiasis) [PATH:hsa05142] |
| 名称 |
|---|
| Activated TLR4 signalling |
| Adaptive Immune System |
| AMER1 mutants destabilize the destruction complex |
| Anchoring of the basal body to the plasma membrane |
| APC truncation mutants have impaired AXIN binding |
| Assembly of the primary cilium |
| AXIN missense mutants destabilize the destruction complex |
| AXIN mutants destabilize the destruction complex, activating WNT signaling |
| Beta-catenin phosphorylation cascade |
| Cell Cycle |
| Cell Cycle, Mitotic |
| Centrosome maturation |
| Costimulation by the CD28 family |
| CTLA4 inhibitory signaling |
| Cyclin A/B1 associated events during G2/M transition |
| Cyclin D associated events in G1 |
| DARPP-32 events |
| Degradation of beta-catenin by the destruction complex |
| disassembly of the destruction complex and recruitment of AXIN to the membrane |
| Disease |
| Diseases of signal transduction |
| E2F mediated regulation of DNA replication |
| ERK/MAPK targets |
| ERKs are inactivated |
| G1 Phase |
| G1/S Transition |
| G2/M Transition |
| Gene Expression |
| Glucose metabolism |
| Glycolysis |
| Hemostasis |
| Immune System |
| Inhibition of replication initiation of damaged DNA by RB1/E2F1 |
| Initiation of Nuclear Envelope Reformation |
| Innate Immune System |
| Integration of energy metabolism |
| Loss of Nlp from mitotic centrosomes |
| Loss of proteins required for interphase microtubule organization from the centrosome |
| M Phase |
| MAP kinase activation in TLR cascade |
| MAPK targets/ Nuclear events mediated by MAP kinases |
| MASTL Facilitates Mitotic Progression |
| Metabolism of carbohydrates |
| misspliced GSK3beta mutants stabilize beta-catenin |
| Mitotic Anaphase |
| Mitotic G1-G1/S phases |
| Mitotic G2-G2/M phases |
| Mitotic Metaphase and Anaphase |
| Mitotic Prometaphase |
| Mitotic Prophase |
| MyD88 cascade initiated on plasma membrane |
| MyD88 dependent cascade initiated on endosome |
| MyD88-independent TLR3/TLR4 cascade |
| MyD88:Mal cascade initiated on plasma membrane |
| Negative regulation of FGFR1 signaling |
| Negative regulation of FGFR2 signaling |
| Negative regulation of FGFR3 signaling |
| Negative regulation of FGFR4 signaling |
| NGF signalling via TRKA from the plasma membrane |
| Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) |
| Nonsense-Mediated Decay (NMD) |
| Nuclear Envelope Reassembly |
| Nuclear Events (kinase and transcription factor activation) |
| Opioid Signalling |
| Organelle biogenesis and maintenance |
| phosphorylation site mutants of CTNNB1 are not targeted to the proteasome by the destruction complex |
| Platelet homeostasis |
| Platelet sensitization by LDL |
| PP2A-mediated dephosphorylation of key metabolic factors |
| Recruitment of mitotic centrosome proteins and complexes |
| Regulation of PLK1 Activity at G2/M Transition |
| Resolution of Sister Chromatid Cohesion |
| RHO GTPase Effectors |
| RHO GTPases Activate Formins |
| S33 mutants of beta-catenin aren't phosphorylated |
| S37 mutants of beta-catenin aren't phosphorylated |
| S45 mutants of beta-catenin aren't phosphorylated |
| Separation of Sister Chromatids |
| Signaling by FGFR |
| Signaling by FGFR1 |
| Signaling by FGFR2 |
| Signaling by FGFR3 |
| Signaling by FGFR4 |
| Signaling by GPCR |
| Signaling by Rho GTPases |
| Signaling by Wnt |
| Signaling by WNT in cancer |
| Signalling by NGF |
| Spry regulation of FGF signaling |
| T41 mutants of beta-catenin aren't phosphorylated |
| TCF dependent signaling in response to WNT |
| Toll Like Receptor 10 (TLR10) Cascade |
| Toll Like Receptor 2 (TLR2) Cascade |
| Toll Like Receptor 3 (TLR3) Cascade |
| Toll Like Receptor 4 (TLR4) Cascade |
| Toll Like Receptor 5 (TLR5) Cascade |
| Toll Like Receptor 7/8 (TLR7/8) Cascade |
| Toll Like Receptor 9 (TLR9) Cascade |
| Toll Like Receptor TLR1:TLR2 Cascade |
| Toll Like Receptor TLR6:TLR2 Cascade |
| Toll-Like Receptors Cascades |
| TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation |
| TRAF6 Mediated Induction of proinflammatory cytokines |
| TRIF-mediated TLR3/TLR4 signaling |
| truncated APC mutants destabilize the destruction complex |
| truncations of AMER1 destabilize the destruction complex |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Degenerative polyarthritis | 0.12 | 1 | 0 | CTD_human |
| Disease Progression | 0.12 | 1 | 0 | CTD_human |
| Stomach Neoplasms | 0.12 | 1 | 0 | CTD_human |
| Malignant neoplasm of breast | 0.002638474 | 1 | 0 | BeFree_GAD |
| Ovarian Carcinoma | 0.001357209 | 5 | 0 | BeFree |
| Malignant neoplasm of ovary | 0.000814326 | 3 | 0 | BeFree |
| Carcinoma, Endometrioid | 0.000814326 | 3 | 0 | BeFree |
| Malignant neoplasm of endometrium | 0.000542884 | 2 | 0 | BeFree |
| Endometrial Carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Uterine Corpus Cancer | 0.000542884 | 2 | 0 | BeFree |
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