Human Gene CASP3 (ENST00000393588.8) Description and Page Index
  Description: Homo sapiens caspase 3 (CASP3), transcript variant 10, mRNA. (from RefSeq NM_001354784)
RefSeq Summary (NM_001354781): The protein encoded by this gene is a cysteine-aspartic acid protease that plays a central role in the execution-phase of cell apoptosis. The encoded protein cleaves and inactivates poly(ADP-ribose) polymerase while it cleaves and activates sterol regulatory element binding proteins as well as caspases 6, 7, and 9. This 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. [provided by RefSeq, Aug 2017].
Gencode Transcript: ENST00000393588.8
Gencode Gene: ENSG00000164305.19
Transcript (Including UTRs)
   Position: hg38 chr4:184,629,384-184,649,455 Size: 20,072 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg38 chr4:184,629,436-184,638,453 Size: 9,018 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:184,629,384-184,649,455)mRNA (may differ from genome)Protein (182 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
LynxMGIOMIMPubMedStanford SOURCEUniProtKB

-  Comments and Description Text from UniProtKB
  ID: A8MVM1_HUMAN
DESCRIPTION: SubName: Full=Caspase-3 subunit p17;
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  MalaCards Disease Associations
  MalaCards Gene Search: CASP3
Diseases sorted by gene-association score: lung cancer (15), nervous system cancer (14), chronic myelocytic leukemia (13), huntington disease (11), retinal ischemia (11), colon adenocarcinoma (11), bladder urothelial carcinoma (11), hepatocellular carcinoma (11), ischemia (11), spinal cord injury (10), oral lichen planus (10), short-rib thoracic dysplasia 4 with or without polydactyly (10), charcot-marie-tooth disease, axonal, type 2cc (10), nutmeg liver (10), monocytic leukemia (9), cervical cancer, somatic (9), hepatoblastoma (9), transient cerebral ischemia (9), malignant glioma (9), colorectal cancer (9), cowpox (9), tongue squamous cell carcinoma (8), krabbe disease (8), alzheimer disease (8), heterophyiasis (8), deafness, autosomal recessive 74 (8), nasopharyngeal carcinoma (7), primary effusion lymphoma (7), varicocele (7), fatty liver disease (7), colon adenoma (7), breast cancer (7), traumatic brain injury (7), deafness, autosomal dominant 24 (7), spermatic cord torsion (7), lung cancer susceptibility 3 (7), prostate calculus (7), oral squamous cell carcinoma (7), ehrlichiosis (7), toxic encephalopathy (6), reticulosarcoma (6), alzheimer disease mitochondrial (6), crimean-congo hemorrhagic fever (6), osteosarcoma, somatic (6), status epilepticus (6), lower lip cancer (6), salivary gland cancer (6), lymphadenitis (6), newcastle disease (6), oral cancer (6), pancreatic cancer (6), skin melanoma (6), myasthenic syndrome, congenital, 13, with tubular aggregates (5), autonomic nervous system neoplasm (5), spotted fever (5), panniculitis (5), brain injury (5), occlusion precerebral artery (5), leukemia, acute promyelocytic, somatic (5), peripheral nervous system neoplasm (5), internal hemorrhoid (5), spinocerebellar ataxia 14 (5), cerebral hypoxia (5), testicular disease (5), ovarian cancer, somatic (4), prostate cancer (4), stomach cancer (4), idiopathic neutropenia (4), gastric adenocarcinoma (4), chronic lymphocytic leukemia (4), b-cell lymphomas (4), sudden infant death syndrome (3), endometrial cancer (3), lateral sclerosis (3), esophageal cancer (3), medulloblastoma (2), urinary bladder cancer (2), leukemia, chronic myeloid, somatic (2), mantle cell lymphoma (2), parkinson disease, late-onset (2), multiple myeloma (2), fanconi anemia, complementation group a (2), gastrointestinal system cancer (2), reproductive organ cancer (2), pheochromocytoma (2), neuroblastoma (2), adamantinoma of long bones (2), malaria (1), cardiomyopathy, familial hypertrophic (1), amyotrophic lateral sclerosis 1 (1), nervous system disease (1), male reproductive organ cancer (1), female reproductive organ cancer (1), myocardial infarction (1), macular degeneration, age-related, 1 (1), pharynx cancer (1), cell type cancer (1), gastric cancer, somatic (1), leukemia, acute myeloid (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 30.05 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 405.30 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -18.0076-0.237 Picture PostScript Text
3' UTR -3.9052-0.075 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR015470 - Caspase_3
IPR011600 - Pept_C14_cat
IPR001309 - Pept_C14_ICE_p20
IPR016129 - Pept_C14_ICE_p20_AS
IPR002398 - Pept_C14_p45
IPR015917 - Pept_C14_p45_core

Pfam Domains:
PF00656 - Caspase domain

ModBase Predicted Comparative 3D Structure on A8MVM1
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004197 cysteine-type endopeptidase activity
GO:0008234 cysteine-type peptidase activity

Biological Process:
GO:0006508 proteolysis


-  Descriptions from all associated GenBank mRNAs
  BX647609 - Homo sapiens mRNA; cDNA DKFZp686N1815 (from clone DKFZp686N1815).
BC016926 - Homo sapiens caspase 3, apoptosis-related cysteine peptidase, mRNA (cDNA clone MGC:21241 IMAGE:4419175), complete cds.
HV708958 - JP 2012506450-A/56: Methods for treating eye disorders.
HV708959 - JP 2012506450-A/57: Methods for treating eye disorders.
JA482041 - Sequence 24 from Patent WO2011072091.
JA482042 - Sequence 25 from Patent WO2011072091.
JE980333 - Sequence 24 from Patent EP2862929.
JE980334 - Sequence 25 from Patent EP2862929.
U13737 - Human cysteine protease CPP32 isoform alpha mRNA, complete cds.
AK291337 - Homo sapiens cDNA FLJ75691 complete cds, highly similar to Homo sapiens caspase 3, apoptosis-related cysteine protease(CASP3), transcript variant alpha, mRNA.
U13738 - Human cysteine protease CPP32 isoform beta mRNA, complete cds.
AJ413269 - Homo sapiens mRNA for caspase-3 (CASP3 gene), N-terminal mutant form.
U26943 - Human cysteine protease Yama mRNA, complete cds.
KJ890827 - Synthetic construct Homo sapiens clone ccsbBroadEn_00221 CASP3 gene, encodes complete protein.
DQ891543 - Synthetic construct clone IMAGE:100004173; FLH177878.01X; RZPDo839E12126D caspase 3, apoptosis-related cysteine peptidase (CASP3) gene, encodes complete protein.
DQ894731 - Synthetic construct Homo sapiens clone IMAGE:100009191; FLH177874.01L; RZPDo839E12125D caspase 3, apoptosis-related cysteine peptidase (CASP3) gene, encodes complete protein.
AB590261 - Synthetic construct DNA, clone: pFN21AE1435, Homo sapiens CASP3 gene for caspase 3, apoptosis-related cysteine peptidase, without stop codon, in Flexi system.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04010 - MAPK signaling pathway
hsa04115 - p53 signaling pathway
hsa04210 - Apoptosis
hsa04650 - Natural killer cell mediated cytotoxicity
hsa05010 - Alzheimer's disease
hsa05012 - Parkinson's disease
hsa05014 - Amyotrophic lateral sclerosis (ALS)
hsa05016 - Huntington's disease
hsa05120 - Epithelial cell signaling in Helicobacter pylori infection
hsa05200 - Pathways in cancer
hsa05210 - Colorectal cancer
hsa05416 - Viral myocarditis

BioCarta from NCI Cancer Genome Anatomy Project
h_DNAfragmentPathway - Apoptotic DNA fragmentation and tissue homeostasis
h_fasPathway - FAS signaling pathway ( CD95 )
h_tnfr1Pathway - TNFR1 Signaling Pathway
h_HivnefPathway - HIV-I Nef: negative effector of Fas and TNF
h_d4gdiPathway - D4-GDI Signaling Pathway
h_tsp1Pathway - TSP-1 Induced Apoptosis in Microvascular Endothelial Cell
h_bcellsurvivalPathway - B Cell Survival Pathway
h_chemicalPathway - Apoptotic Signaling in Response to DNA Damage
h_hsp27Pathway - Stress Induction of HSP Regulation
h_caspasePathway - Caspase Cascade in Apoptosis
h_deathPathway - Induction of apoptosis through DR3 and DR4/5 Death Receptors
h_mitochondriaPathway - Role of Mitochondria in Apoptotic Signaling

-  Other Names for This Gene
  Alternate Gene Symbols: A8MVM1, A8MVM1_HUMAN, NM_001354784, uc063bif.1
UCSC ID: uc063bif.1
RefSeq Accession: NM_001354781
Protein: A8MVM1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.