CASP3(半胱天冬酶3,caspase-3)是一种关键的凋亡执行蛋白酶,属于半胱天冬酶(caspase)家族。该家族成员均含有半胱氨酸活性位点,并在天冬氨酸残基后切割底物蛋白,参与细胞凋亡(程序性细胞死亡)和炎症反应。CASP3作为凋亡的“刽子手”,其功能是将细胞推入不可逆的凋亡阶段。它通常以无活性的酶原形式存在,被上游caspase(如CASP8、CASP9)激活后,切割多种关键底物(如PARP、核纤层蛋白),导致DNA断裂、细胞皱缩和凋亡小体形成。CASP3的主要作用位点包括细胞质和细胞核。突变可能导致其功能丧失或异常激活,前者可能抑制凋亡(与癌症发生相关),后者可能引发过度凋亡(如神经退行性疾病)。该基因与阿尔茨海默病、帕金森病等神经疾病密切相关,也参与肿瘤耐药性调控。CASP3过表达会加速凋亡,导致组织损伤(如心肌梗死后的细胞死亡);而表达不足则可能使癌细胞逃避凋亡,促进肿瘤发展。CASP3还通过调控其他凋亡相关基因(如BCL-2家族)发挥作用。其家族成员(如CASP1、CASP8)共享保守的C末端催化结构域,但功能分化:CASP1主要参与炎症,CASP8侧重死亡受体介导的凋亡起始。
This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein cleaves and activates caspases 6, 7 and 9, and the protein itself is processed by caspases 8, 9 and 10. It is the predominant caspase involved in the cleavage of amyloid-beta 4A precursor protein, which is associated with neuronal death in Alzheimer's disease. Alternative splicing of this gene results in two transcript variants that encode the same protein. [provided by RefSeq, Jul 2008]
这个基因编码的蛋白质是半胱氨酸天冬氨酸蛋白酶(胱天蛋白酶)家族的一个成员。胱天蛋白酶的顺序激活在细胞凋亡的执行阶段发挥中心作用。胱天蛋白酶存在其中在保守天冬氨酸残基经受蛋白水解加工以产生两个亚基,大,小,即二聚化以形成活性酶作为无活性酶原。该蛋白质裂解和激活胱天蛋白酶6,7和9,以及该蛋白质本身是由胱天蛋白酶8,9和10。它是一种参与β-淀粉样4A的前体蛋白,其与神经元死亡相关的裂解的主要蛋白酶处理阿尔茨海默氏病。该基因导致两个转录变异体,其编码相同蛋白质的选择性剪接。 [由RefSeq的,2008年7月提供]
CASP3基因(以及对应的蛋白质)的细胞分布位置:
CASP3基因的本体(GO)信息:
| 名称 |
|---|
| 4010 MAPK signaling pathway [PATH:hsa04010] |
| 4668 TNF signaling pathway [PATH:hsa04668] |
| 4210 Apoptosis [PATH:hsa04210] |
| 4115 p53 signaling pathway [PATH:hsa04115] |
| 4650 Natural killer cell mediated cytotoxicity [PATH:hsa04650] |
| 4726 Serotonergic synapse [PATH:hsa04726] |
| 5200 Pathways in cancer [PATH:hsa05200] |
| 5206 MicroRNAs in cancer [PATH:hsa05206] |
| 5205 Proteoglycans in cancer [PATH:hsa05205] |
| 5203 Viral carcinogenesis [PATH:hsa05203] |
| 5210 Colorectal cancer [PATH:hsa05210] |
| 5010 Alzheimer's disease [PATH:hsa05010] |
| 5012 Parkinson's disease [PATH:hsa05012] |
| 5014 Amyotrophic lateral sclerosis (ALS) [PATH:hsa05014] |
| 5016 Huntington's disease [PATH:hsa05016] |
| 5416 Viral myocarditis [PATH:hsa05416] |
| 4932 Non-alcoholic fatty liver disease (NAFLD) [PATH:hsa04932] |
| 5120 Epithelial cell signaling in Helicobacter pylori infection [PATH:hsa05120] |
| 5133 Pertussis [PATH:hsa05133] |
| 5134 Legionellosis [PATH:hsa05134] |
| 5152 Tuberculosis [PATH:hsa05152] |
| 5161 Hepatitis B [PATH:hsa05161] |
| 5168 Herpes simplex infection [PATH:hsa05168] |
| 5146 Amoebiasis [PATH:hsa05146] |
| 5145 Toxoplasmosis [PATH:hsa05145] |
| 名称 |
|---|
| Activation of caspases through apoptosome-mediated cleavage |
| Activation of DNA fragmentation factor |
| Apoptosis |
| Apoptosis induced DNA fragmentation |
| Apoptotic cleavage of cell adhesion proteins |
| Apoptotic cleavage of cellular proteins |
| Apoptotic execution phase |
| Apoptotic factor-mediated response |
| Caspase activation via extrinsic apoptotic signalig pathway |
| Caspase-mediated cleavage of cytoskeletal proteins |
| Cell death signalling via NRAGE, NRIF and NADE |
| Cytochrome c-mediated apoptotic response |
| Degradation of the extracellular matrix |
| Extracellular matrix organization |
| Intrinsic Pathway for Apoptosis |
| Ligand-independent caspase activation via DCC |
| NADE modulates death signalling |
| p75 NTR receptor-mediated signalling |
| Programmed Cell Death |
| Signal Transduction |
| Signaling by Hippo |
| Signalling by NGF |
| SMAC binds to IAPs |
| SMAC-mediated apoptotic response |
| SMAC-mediated dissociation of IAP:caspase complexes |
| Stimulation of the cell death response by PAK-2p34 |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Diabetes Mellitus, Experimental | 0.2 | 2 | 0 | CTD_human_RGD |
| Diabetic Retinopathy | 0.2 | 2 | 0 | CTD_human_RGD |
| Reperfusion Injury | 0.2 | 2 | 0 | CTD_human_RGD |
| Diabetic Neuropathies | 0.2 | 2 | 0 | CTD_human_RGD |
| Status Epilepticus | 0.2 | 3 | 0 | CTD_human_RGD |
| Myocardial Reperfusion Injury | 0.2 | 2 | 0 | CTD_human_RGD |
| Alzheimer's Disease | 0.128163119 | 13 | 0 | BeFree_CTD_human_LHGDN |
| Brain Ischemia | 0.12272435 | 3 | 0 | CTD_human_LHGDN |
| Ulcerative Colitis | 0.120271442 | 2 | 0 | BeFree_CTD_human |
| Mycoplasma Infections | 0.120271442 | 1 | 0 | BeFree_CTD_human |
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。