PPP1CC (protein phosphatase 1 catalytic subunit gamma)
- symbol:
- PPP1CC
- locus group:
- protein-coding gene
- location:
- 12q24.11
- gene_family:
- Protein phosphatases, catalytic subunits
- alias symbol:
- PP1C|PP1gamma
- alias name:
- None
- entrez id:
- 5501
- ensembl gene id:
- ENSG00000186298
- ucsc gene id:
- uc001tru.4
- refseq accession:
- NM_001244974
- hgnc_id:
- HGNC:9283
- approved reserved:
- 1992-12-01
PPP1CC是蛋白磷酸酶1（PP1）催化亚基γ亚型，属于丝氨酸/苏氨酸蛋白磷酸酶1（PPP1）基因家族。该家族成员（包括PPP1CA、PPP1CB和PPP1CC）共享高度保守的催化核心结构域，能通过去磷酸化调控多种细胞过程。PPP1CC主要在睾丸中高表达，对精子发生和运动能力起关键作用，其表达产物通过与不同调节亚基（如PPP1R2、PPP1R7等）结合形成全酶复合物，特异性作用于精子鞭毛和顶体等部位。该基因突变会导致精子形态异常和活力下降，与男性不育症密切相关。PPP1CC还参与细胞周期调控、代谢平衡和神经元可塑性等过程，在脑组织中通过与神经配体（如神经纤维蛋白）相互作用影响突触功能。过表达PPP1CC可能破坏正常的磷酸化平衡，导致细胞周期紊乱和肿瘤发生；而表达降低则可能引发精子发生障碍和神经退行性病变。值得注意的是，PPP1CC存在多种剪接变体（如PPP1CC1和PPP1CC2），这些异构体在组织分布和功能上存在差异。该基因还与阿尔茨海默病相关，其异常表达可能通过影响tau蛋白磷酸化水平促进神经纤维缠结形成。在癌症中，PPP1CC的表达变化与肿瘤转移能力相关，可能通过调控细胞骨架重组影响侵袭性。
The protein encoded by this gene belongs to the protein phosphatase family, PP1 subfamily. PP1 is an ubiquitous serine/threonine phosphatase that regulates many cellular processes, including cell division. It is expressed in mammalian cells as three closely related isoforms, alpha, beta/delta and gamma, which have distinct localization patterns. This gene encodes the gamma isozyme. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
由该基因编码的蛋白质属于蛋白磷酸酶家族，PP1亚科。 PP1是一个普遍存在的丝氨酸/苏氨酸磷酸酶，调节许多细胞过程，包括细胞分裂。它是在哺乳动物细胞中作为三个密切相关的同种型，α，β/δ和γ，它们具有不同的定位图案来表示。该基因编码的伽玛同工酶。已发现该基因编码不同亚型选择性剪接转录变异体。 [由RefSeq的，2011年10月提供]
基因本体信息
PPP1CC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
PPP1CC基因的本体（GO）信息：
| 名称 |
|---|
| 3015 mRNA surveillance pathway [PATH:hsa03015] |
| 4390 Hippo signaling pathway [PATH:hsa04390] |
| 4024 cAMP signaling pathway [PATH:hsa04024] |
| 4022 cGMP - PKG signaling pathway [PATH:hsa04022] |
| 4810 Regulation of actin cytoskeleton [PATH:hsa04810] |
| 4114 Oocyte meiosis [PATH:hsa04114] |
| 4510 Focal adhesion [PATH:hsa04510] |
| 4611 Platelet activation [PATH:hsa04611] |
| 4910 Insulin signaling pathway [PATH:hsa04910] |
| 4921 Oxytocin signaling pathway [PATH:hsa04921] |
| 4261 Adrenergic signaling in cardiomyocytes [PATH:hsa04261] |
| 4270 Vascular smooth muscle contraction [PATH:hsa04270] |
| 4728 Dopaminergic synapse [PATH:hsa04728] |
| 4720 Long-term potentiation [PATH:hsa04720] |
| 4750 Inflammatory mediator regulation of TRP channels [PATH:hsa04750] |
| 5205 Proteoglycans in cancer [PATH:hsa05205] |
| 5031 Amphetamine addiction [PATH:hsa05031] |
| 5034 Alcoholism [PATH:hsa05034] |
| 5168 Herpes simplex infection [PATH:hsa05168] |
| 名称 |
|---|
| Cell Cycle |
| Cell Cycle, Mitotic |
| Circadian Clock |
| Downregulation of TGF-beta receptor signaling |
| Hormone-sensitive lipase (HSL)-mediated triacylglycerol hydrolysis |
| Lipid digestion, mobilization, and transport |
| M Phase |
| Metabolism of lipids and lipoproteins |
| Mitotic Anaphase |
| Mitotic Metaphase and Anaphase |
| Mitotic Prometaphase |
| Resolution of Sister Chromatid Cohesion |
| RHO GTPase Effectors |
| RHO GTPases Activate Formins |
| Separation of Sister Chromatids |
| Signaling by Rho GTPases |
| Signaling by TGF-beta Receptor Complex |
| TGF-beta receptor signaling activates SMADs |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| ovarian neoplasm | 0.12 | 1 | 0 | CTD_human |
| Anoxia | 0.00272435 | 1 | 0 | LHGDN |
| Male infertility | 0.002638474 | 2 | 0 | BeFree_GAD |
| Oligospermia | 0.002367032 | 1 | 0 | GAD |
| Azoospermia | 0.002367032 | 1 | 0 | GAD |
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