CASP3 (caspase 3)

symbol:
CASP3
locus group:
protein-coding gene
location:
4q35.1
gene_family:
Caspases
alias symbol:
CPP32|CPP32B|Yama|apopain
alias name:
None
entrez id:
836
ensembl gene id:
ENSG00000164305
ucsc gene id:
uc003iwi.4
refseq accession:
NM_004346
hgnc_id:
HGNC:1504
approved reserved:
1996-07-22
4q35.1
基因染色体位置图

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基因的碱基序列:[NCBI]
Loading Gene Browser...
CASP3基因的碱基突变:           仅显示部分snp
rs6948       rs8549       rs1049210       rs1049216       rs1049253       rs1405937       rs1405938       rs1405942       rs1405944       rs1830254       rs2019978       rs2310103       rs2696040       rs2696048       rs2696056       rs2696057       rs2696060      

CASP3基因在不同组织中的表达:    [UniProt]

基因在不同组织中的表达图
正向引物序列
正向Tm值
反向引物序列
反向Tm值
评分
AAATGGATTATCCTGAGATGGG
58
GACCGAGATGTCATTCCAG
58
AAATGGATTATCCTGAGATGGG
58
GACCGAGATGTCATTCCAG
58
AAATGGATTATCCTGAGATGGG
58
GACCGAGATGTCATTCCAG
58
AAATGGATTATCCTGAGATGGG
58
GACCGAGATGTCATTCCAG
58
AGCACCTGGTTATTATTCTTGG
59
ATACTGTTTCAGCATGGCAC
59
AGCACCTGGTTATTATTCTTGG
59
ATACTGTTTCAGCATGGCAC
59
AAATGGATTATCCTGAGATGGG
58
GACCGAGATGTCATTCCAG
58
GATGATGACATGGCGTGTC
59
AGAATAATAACCAGGTGCTGTG
59
AATGGATTATCCTGAGATGGGT
59
AGACCGAGATGTCATTCCAG
59
AATGGATTATCCTGAGATGGGT
59
AGACCGAGATGTCATTCCAG
59
转录因子
影响基因
影响类型
参考文献链接(PubMed)
ING1
CASP3
Activation
ING4
CASP3
Activation
NFKB1
CASP3
Unknown
PHF10
CASP3
Unknown
PML
CASP3
Activation
RELA
CASP3
Unknown
RUNX3
CASP3
Activation
SIM2
CASP3
Activation
SP1
CASP3
Unknown
TP53
CASP3
Unknown

CASP3基因(以及对应的蛋白质)的细胞分布位置:

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • 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

CASP3基因的本体(GO)信息:

GO库代码
对应的蛋白质
来源代码
GO:0004197
A0A087WU32 (UniProtKB)
IEA
GO:0005737
A0A087WU32 (UniProtKB)
IEA
GO:0006508
A0A087WU32 (UniProtKB)
IEA
GO:0006915
A0A087WU32 (UniProtKB)
IEA
GO:0004197
A8MVM1 (UniProtKB)
IEA
GO:0005737
A8MVM1 (UniProtKB)
IEA
GO:0006508
A8MVM1 (UniProtKB)
IEA
GO:0006915
A8MVM1 (UniProtKB)
IEA
GO:0004197
C9JXR7 (UniProtKB)
IEA
GO:0005737
C9JXR7 (UniProtKB)
IEA
GO:0006508
C9JXR7 (UniProtKB)
IEA
GO:0006915
C9JXR7 (UniProtKB)
IEA
GO:0001666
P42574 (UniProtKB)
IEA
GO:0001782
P42574 (UniProtKB)
IEA
GO:0002020
P42574 (UniProtKB)
IEA
GO:0004190
P42574 (UniProtKB)
EXP
GO:0004197
P42574 (UniProtKB)
IDA
GO:0004197
P42574 (UniProtKB)
IDA
GO:0004197
P42574 (UniProtKB)
TAS
GO:0004197
P42574 (UniProtKB)
TAS
GO:0004197
P42574 (UniProtKB)
TAS
GO:0004197
P42574 (UniProtKB)
TAS
GO:0004197
P42574 (UniProtKB)
TAS
GO:0004197
P42574 (UniProtKB)
TAS
GO:0004197
P42574 (UniProtKB)
TAS
GO:0004197
P42574 (UniProtKB)
TAS
GO:0004197
P42574 (UniProtKB)
TAS
GO:0004197
P42574 (UniProtKB)
TAS
GO:0004197
P42574 (UniProtKB)
TAS
GO:0004197
P42574 (UniProtKB)
TAS
GO:0004197
P42574 (UniProtKB)
TAS
GO:0004197
P42574 (UniProtKB)
TAS
GO:0004197
P42574 (UniProtKB)
TAS
GO:0004197
P42574 (UniProtKB)
TAS
GO:0004197
P42574 (UniProtKB)
TAS
GO:0004197
P42574 (UniProtKB)
TAS
GO:0004197
P42574 (UniProtKB)
TAS
GO:0004197
P42574 (UniProtKB)
TAS
GO:0004197
P42574 (UniProtKB)
TAS
GO:0004197
P42574 (UniProtKB)
TAS
GO:0004197
P42574 (UniProtKB)
TAS
GO:0004197
P42574 (UniProtKB)
TAS
GO:0004197
P42574 (UniProtKB)
TAS
GO:0004197
P42574 (UniProtKB)
TAS
GO:0004861
P42574 (UniProtKB)
IEA
GO:0005123
P42574 (UniProtKB)
IEA
GO:0005515
P42574 (UniProtKB)
IPI
GO:0005515
P42574 (UniProtKB)
IPI
GO:0005515
P42574 (UniProtKB)
IPI
GO:0005515
P42574 (UniProtKB)
IPI
GO:0005515
P42574 (UniProtKB)
IPI
GO:0005515
P42574 (UniProtKB)
IPI
GO:0005515
P42574 (UniProtKB)
IPI
GO:0005515
P42574 (UniProtKB)
IPI
GO:0005515
P42574 (UniProtKB)
IPI
GO:0005515
P42574 (UniProtKB)
IPI
GO:0005515
P42574 (UniProtKB)
IPI
GO:0005515
P42574 (UniProtKB)
IPI
GO:0005634
P42574 (UniProtKB)
IDA
GO:0005654
P42574 (UniProtKB)
TAS
GO:0005654
P42574 (UniProtKB)
TAS
GO:0005654
P42574 (UniProtKB)
TAS
GO:0005829
P42574 (UniProtKB)
IDA
GO:0005829
P42574 (UniProtKB)
IDA
GO:0005829
P42574 (UniProtKB)
TAS
GO:0005829
P42574 (UniProtKB)
TAS
GO:0005829
P42574 (UniProtKB)
TAS
GO:0005829
P42574 (UniProtKB)
TAS
GO:0005829
P42574 (UniProtKB)
TAS
GO:0005829
P42574 (UniProtKB)
TAS
GO:0005829
P42574 (UniProtKB)
TAS
GO:0005829
P42574 (UniProtKB)
TAS
GO:0005829
P42574 (UniProtKB)
TAS
GO:0005829
P42574 (UniProtKB)
TAS
GO:0005829
P42574 (UniProtKB)
TAS
GO:0005829
P42574 (UniProtKB)
TAS
GO:0005829
P42574 (UniProtKB)
TAS
GO:0005829
P42574 (UniProtKB)
TAS
GO:0005829
P42574 (UniProtKB)
TAS
GO:0005829
P42574 (UniProtKB)
TAS
GO:0005829
P42574 (UniProtKB)
TAS
GO:0005829
P42574 (UniProtKB)
TAS
GO:0005829
P42574 (UniProtKB)
TAS
GO:0005829
P42574 (UniProtKB)
TAS
GO:0005829
P42574 (UniProtKB)
TAS
GO:0005829
P42574 (UniProtKB)
TAS
GO:0005829
P42574 (UniProtKB)
TAS
GO:0005829
P42574 (UniProtKB)
TAS
GO:0005829
P42574 (UniProtKB)
TAS
GO:0005829
P42574 (UniProtKB)
TAS
GO:0005886
P42574 (UniProtKB)
TAS
GO:0005886
P42574 (UniProtKB)
TAS
GO:0005886
P42574 (UniProtKB)
TAS
GO:0005886
P42574 (UniProtKB)
TAS
GO:0006309
P42574 (UniProtKB)
TAS
GO:0006508
P42574 (UniProtKB)
IDA
GO:0006915
P42574 (UniProtKB)
TAS
GO:0006919
P42574 (UniProtKB)
TAS
GO:0006921
P42574 (UniProtKB)
TAS
GO:0006974
P42574 (UniProtKB)
IEA
GO:0007507
P42574 (UniProtKB)
IEA
GO:0007605
P42574 (UniProtKB)
IEA
GO:0007611
P42574 (UniProtKB)
IEA
GO:0008233
P42574 (UniProtKB)
IDA
GO:0008233
P42574 (UniProtKB)
IDA
GO:0008635
P42574 (UniProtKB)
TAS
GO:0008656
P42574 (UniProtKB)
TAS
GO:0009411
P42574 (UniProtKB)
IEA
GO:0009749
P42574 (UniProtKB)
IEA
GO:0010165
P42574 (UniProtKB)
IEA
GO:0016005
P42574 (UniProtKB)
IEA
GO:0016241
P42574 (UniProtKB)
TAS
GO:0021766
P42574 (UniProtKB)
IEA
GO:0030182
P42574 (UniProtKB)
IBA
GO:0030216
P42574 (UniProtKB)
IBA
GO:0030218
P42574 (UniProtKB)
IDA
GO:0030218
P42574 (UniProtKB)
TAS
GO:0030220
P42574 (UniProtKB)
TAS
GO:0030889
P42574 (UniProtKB)
IEA
GO:0031264
P42574 (UniProtKB)
IEA
GO:0032025
P42574 (UniProtKB)
IEA
GO:0032355
P42574 (UniProtKB)
IEA
GO:0032403
P42574 (UniProtKB)
IEA
GO:0032496
P42574 (UniProtKB)
IEA
GO:0034349
P42574 (UniProtKB)
IEA
GO:0034349
P42574 (UniProtKB)
IEA
GO:0034612
P42574 (UniProtKB)
TAS
GO:0035094
P42574 (UniProtKB)
IEA
GO:0035329
P42574 (UniProtKB)
TAS
GO:0042060
P42574 (UniProtKB)
IEA
GO:0042493
P42574 (UniProtKB)
IEA
GO:0042542
P42574 (UniProtKB)
IEA
GO:0043029
P42574 (UniProtKB)
IEA
GO:0043066
P42574 (UniProtKB)
IGI
GO:0043200
P42574 (UniProtKB)
IEA
GO:0043525
P42574 (UniProtKB)
IEA
GO:0045121
P42574 (UniProtKB)
IEA
GO:0045165
P42574 (UniProtKB)
IEA
GO:0045736
P42574 (UniProtKB)
IEA
GO:0046007
P42574 (UniProtKB)
IEA
GO:0046677
P42574 (UniProtKB)
IEA
GO:0048011
P42574 (UniProtKB)
IDA
GO:0051384
P42574 (UniProtKB)
IEA
GO:0051402
P42574 (UniProtKB)
IEA
GO:0071407
P42574 (UniProtKB)
IEA
GO:0097153
P42574 (UniProtKB)
IMP
GO:0097153
P42574 (UniProtKB)
IDA
GO:0097190
P42574 (UniProtKB)
TAS
GO:0097192
P42574 (UniProtKB)
TAS
GO:0097194
P42574 (UniProtKB)
IMP
GO:0097194
P42574 (UniProtKB)
IDA
GO:0097200
P42574 (UniProtKB)
IMP

可能调控 CASP3基因的相关microRNA:     

Reactome

MINT

BioGrid

IntAct

mentha

String

基因与其他基因之间的相互作用关系图
序号 作用方式 资源库来源/分值 基因名称 基因名称
疾病名称 关系值 NofPmids NofSnps 来源
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

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