Gene: CASP3

Basic information

Tag Content
Uniprot ID P42574; A8K5M2; D3DP53; Q96AN1; Q96KP2;
Entrez ID 836
Genbank protein ID EAX04673.1; AAO25654.1; EAX04675.1; AAB60355.1; AAH16926.1; BAF84026.1; AAA65015.1; EAX04674.1; CAC88866.1; AAA74929.1;
Genbank nucleotide ID XM_011532301.1; NM_032991.2; NM_004346.3;
Ensembl protein ID ENSP00000311032; ENSP00000428929;
Ensembl nucleotide ID ENSG00000164305
Gene name Caspase-3
Gene symbol CASP3
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description Involved in the activation cascade of caspases responsible for apoptosis execution. At the onset of apoptosis it proteolytically cleaves poly(ADP-ribose) polymerase (PARP) at a '216-Asp-|-Gly-217' bond. Cleaves and activates sterol regulatory element binding proteins (SREBPs) between the basic helix-loop-helix leucine zipper domain and the membrane attachment domain. Cleaves and activates caspase-6, -7 and -9. Involved in the cleavage of huntingtin. Triggers cell adhesion in sympathetic neurons through RET cleavage.
Sequence
MENTENSVDS KSIKNLEPKI IHGSESMDSG ISLDNSYKMD YPEMGLCIII NNKNFHKSTG 60
MTSRSGTDVD AANLRETFRN LKYEVRNKND LTREEIVELM RDVSKEDHSK RSSFVCVLLS 120
HGEEGIIFGT NGPVDLKKIT NFFRGDRCRS LTGKPKLFII QACRGTELDC GIETDSGVDD 180
DMACHKIPVE ADFLYAYSTA PGYYSWRNSK DGSWFIQSLC AMLKQYADKL EFMHILTRVN 240
RKVATEFESF SFDATFHAKK QIPCIVSMLT KELYFYH 277

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

  

Gene expression in different tissues (ENCODE)

  

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologCASP3F1MB04Bos taurusPredictionMore>>
1:1 orthologCASP3102177031H9B8T7Capra hircusPredictionMore>>
1:1 orthologCASP3100034083F7A730Equus caballusPredictionMore>>
1:1 orthologCASP3836P42574Homo sapiensPredictionMore>>
1:1 orthologCasp312367P70677CPOMus musculusPublicationMore>>
1:1 orthologCASP3461669Q5IS54Pan troglodytesPredictionMore>>
1:1 orthologCasp325402P55213Rattus norvegicusPredictionMore>>

Other genetic variants/mutations

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Disease or phenotype associated information

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0002020 protease bindingIEA
GO:0004190 aspartic-type endopeptidase activityIEA
GO:0004197 cysteine-type endopeptidase activityIDA
GO:0004861 cyclin-dependent protein serine/threonine kinase inhibitor activityIEA
GO:0005123 death receptor bindingIEA
GO:0005515 protein bindingIPI
GO:0008233 peptidase activityIDA
GO:0016005 phospholipase A2 activator activityIEA
GO:0044877 protein-containing complex bindingIEA
GO:0097153 cysteine-type endopeptidase activity involved in apoptotic processIMP
GO:0097153 cysteine-type endopeptidase activity involved in apoptotic processIBA
GO:0097153 cysteine-type endopeptidase activity involved in apoptotic processIDA
GO:0097199 cysteine-type endopeptidase activity involved in apoptotic signaling pathwayIMP
GO:0097200 cysteine-type endopeptidase activity involved in execution phase of apoptosisIMP

GO:Biological Process

GO ID GO Term Evidence
GO:0001554 luteolysisIEA
GO:0001666 response to hypoxiaIEA
GO:0001782 B cell homeostasisIEA
GO:0006309 apoptotic DNA fragmentationTAS
GO:0006508 proteolysisIDA
GO:0006915 apoptotic processIMP
GO:0006915 apoptotic processIBA
GO:0006974 cellular response to DNA damage stimulusIEA
GO:0007413 axonal fasciculationIEA
GO:0007507 heart developmentIEA
GO:0007605 sensory perception of soundIEA
GO:0007611 learning or memoryIEA
GO:0008627 intrinsic apoptotic signaling pathway in response to osmotic stressIEA
GO:0009411 response to UVIEA
GO:0009749 response to glucoseIEA
GO:0010165 response to X-rayIEA
GO:0016241 regulation of macroautophagyTAS
GO:0016485 protein processingIEA
GO:0019221 cytokine-mediated signaling pathwayTAS
GO:0021766 hippocampus developmentIEA
GO:0030182 neuron differentiationIBA
GO:0030216 keratinocyte differentiationIBA
GO:0030218 erythrocyte differentiationIDA
GO:0030218 erythrocyte differentiationTAS
GO:0030218 erythrocyte differentiationIBA
GO:0030220 platelet formationTAS
GO:0030889 negative regulation of B cell proliferationIEA
GO:0031647 regulation of protein stabilityIDA
GO:0032025 response to cobalt ionIEA
GO:0032355 response to estradiolIEA
GO:0032496 response to lipopolysaccharideIEA
GO:0034349 glial cell apoptotic processIEA
GO:0034612 response to tumor necrosis factorTAS
GO:0035094 response to nicotineIEA
GO:0035329 hippo signalingTAS
GO:0042060 wound healingIEA
GO:0042542 response to hydrogen peroxideIEA
GO:0043029 T cell homeostasisIEA
GO:0043066 negative regulation of apoptotic processIGI
GO:0043085 positive regulation of catalytic activityIEA
GO:0043200 response to amino acidIEA
GO:0043525 positive regulation of neuron apoptotic processIEA
GO:0045165 cell fate commitmentIEA
GO:0045736 negative regulation of cyclin-dependent protein serine/threonine kinase activityIEA
GO:0046007 negative regulation of activated T cell proliferationIEA
GO:0048011 neurotrophin TRK receptor signaling pathwayIDA
GO:0051146 striated muscle cell differentiationIEA
GO:0051384 response to glucocorticoidIEA
GO:0051402 neuron apoptotic processIEA
GO:0061713 anterior neural tube closureIEA
GO:0071887 leukocyte apoptotic processIEA
GO:0072734 cellular response to staurosporineIMP
GO:0097190 apoptotic signaling pathwayTAS
GO:0097192 extrinsic apoptotic signaling pathway in absence of ligandTAS
GO:0097194 execution phase of apoptosisIMP
GO:0097194 execution phase of apoptosisIDA
GO:0097194 execution phase of apoptosisTAS
GO:1902004 positive regulation of amyloid-beta formationIDA

GO:Cellular Component

GO ID GO Term Evidence
GO:0005634 nucleusIDA
GO:0005654 nucleoplasmTAS
GO:0005737 cytoplasmIBA
GO:0005829 cytosolIDA
GO:0005829 cytosolTAS
GO:0031264 death-inducing signaling complexIEA
GO:0043025 neuronal cell bodyIEA
GO:0045121 membrane raftIEA

Reactome Pathway

Reactome ID Reactome Term Evidence
R-HSA-109581 ApoptosisTAS
R-HSA-109581 ApoptosisIEA
R-HSA-109606 Intrinsic Pathway for ApoptosisTAS
R-HSA-109606 Intrinsic Pathway for ApoptosisIEA
R-HSA-111459 Activation of caspases through apoptosome-mediated cleavageTAS
R-HSA-111461 Cytochrome c-mediated apoptotic responseTAS
R-HSA-111463 SMAC (DIABLO) binds to IAPs IEA
R-HSA-111464 SMAC(DIABLO)-mediated dissociation of IAP:caspase complexes IEA
R-HSA-111465 Apoptotic cleavage of cellular proteinsTAS
R-HSA-111469 SMAC, XIAP-regulated apoptotic responseTAS
R-HSA-111469 SMAC, XIAP-regulated apoptotic responseIEA
R-HSA-111471 Apoptotic factor-mediated responseTAS
R-HSA-111471 Apoptotic factor-mediated responseIEA
R-HSA-1280215 Cytokine Signaling in Immune systemTAS
R-HSA-140342 Apoptosis induced DNA fragmentationTAS
R-HSA-1474228 Degradation of the extracellular matrixIEA
R-HSA-1474244 Extracellular matrix organizationIEA
R-HSA-162582 Signal TransductionTAS
R-HSA-168256 Immune SystemTAS
R-HSA-193704 p75 NTR receptor-mediated signallingTAS
R-HSA-2028269 Signaling by HippoTAS
R-HSA-204998 Cell death signalling via NRAGE, NRIF and NADETAS
R-HSA-205025 NADE modulates death signallingTAS
R-HSA-211736 Stimulation of the cell death response by PAK-2p34IEA
R-HSA-264870 Caspase-mediated cleavage of cytoskeletal proteinsTAS
R-HSA-351906 Apoptotic cleavage of cell adhesion proteinsTAS
R-HSA-418889 Caspase activation via Dependence Receptors in the absence of ligandTAS
R-HSA-418889 Caspase activation via Dependence Receptors in the absence of ligandIEA
R-HSA-449147 Signaling by InterleukinsTAS
R-HSA-449836 Other interleukin signalingTAS
R-HSA-5357769 Caspase activation via extrinsic apoptotic signalling pathwayTAS
R-HSA-5357769 Caspase activation via extrinsic apoptotic signalling pathwayIEA
R-HSA-5357801 Programmed Cell DeathTAS
R-HSA-5357801 Programmed Cell DeathIEA
R-HSA-73887 Death Receptor SignallingTAS
R-HSA-75153 Apoptotic execution phaseTAS
R-HSA-75153 Apoptotic execution phaseIEA

Drugs and compounds information

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Functional annotations

Keywords

Keyword ID Keyword Term
KW-0002 3D-structure
KW-0007 Acetylation
KW-0053 Apoptosis
KW-0963 Cytoplasm
KW-0903 Direct protein sequencing
KW-0378 Hydrolase
KW-0597 Phosphoprotein
KW-0621 Polymorphism
KW-0645 Protease
KW-1185 Reference proteome
KW-0702 S-nitrosylation
KW-0788 Thiol protease
KW-0865 Zymogen

Interpro

InterPro ID InterPro Term
IPR029030 Caspase-like_dom_sf
IPR033139 Caspase_cys_AS
IPR016129 Caspase_his_AS
IPR002398 Pept_C14
IPR002138 Pept_C14_p10
IPR001309 Pept_C14_p20
IPR015917 Pept_C14A

PROSITE

PROSITE ID PROSITE Term
PS01122 CASPASE_CYS
PS01121 CASPASE_HIS
PS50207 CASPASE_P10
PS50208 CASPASE_P20

Pfam

Pfam ID Pfam Term

Protein-protein interaction

Protein-miRNA interaction