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CASP1 (caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase))

Written2007-11Yatender Kumar, Vegesna Radha, Ghanshyam Swarup
Centre for Cellular, Molecular Biology, Uppal Road, Hyderabad - 500 007, INDIA

(Note : for Links provided by Atlas : click)

Identity

Other namesICE
IL1BC
P45
HGNC (Hugo) CASP1
LocusID (NCBI) 834
Atlas_Id 145
Location 11q22.3  [Link to chromosome band 11q22]
Location_base_pair Starts at 104896237 and ends at 104905884 bp from pter ( according to hg19-Feb_2009)  [Mapping CASP1.png]
Local_order ICEBERG, INCA1, INCA2, COP, Caspase-1, Caspase-5, Caspase-4: The human caspase-1 cluster contains caspase-1 and four other genes encoding decoy caspases: cop, inca1, inca2 and iceberg. These decoy caspases are absent in the mouse genome, suggesting their occurrence recently by duplication of caspase-1 during evolution.
 
Fusion genes
(updated 2016)
KIF5C (2q23.1) / CASP1 (11q22.3)MAPK1 (22q11.21) / CASP1 (11q22.3)
Note 11q22.2-q22.3: a site frequently involved in rearrangement in human cancers.

DNA/RNA

 
Description The human caspase-1 gene is comprised of 10 exons, spanning 10.6kb on chromosome 11q22.2-q22.3.
Transcription Six alternatively spliced forms of caspase-1 have been identified in Homo sapiens.
The longest termed CASP1alpha is 1364bp with an ORF encoding 404 amino acids (aa) and is the most predominant isoform. CASP1beta is 1185bp, lacks entire exon3 (275-338bp; 92-112aa), ORF encoding 383aa. CASP1gamma is 969bp, lacks most of exon2 and entire exon3 (59-338bp; 20-112aa), ORF encoding 291aa. CASP1delta is 825bp, lacks entire exon7 (863-1006bp; 288-335aa), ORF encoding 356aa. CASP1epsilon is 300bp, lacks most of exon2 and exon3 exon7 (59-1006bp; 20-335aa), ORF encoding 98aa. CASP1zeta is 1131bp, missing 79bp in prodomain of caspase-1, ORF encoding 365aa. Among these alpha, beta, gamma and zeta forms are proteolytically active and can induce apoptosis. As delta and epsilon lack part of the catalytic domain, they do not induce apoptosis and serve as inhibitors of caspase-1 when overexpressed.
Pseudogene COP (Card Only Protein)

Protein

 
Description Caspase-1 is the prototypical member of a subclass of caspases involved in cytokine maturation termed inflammatory caspases that also include caspases-4, caspases-5, and caspases-12. It is also involved in some forms of apoptosis. Caspase-1 protein consists of an N-terminal CARD (caspase activation and recruitment domain), a large P20 subunit and a small P10 subunit. Due to its long N-terminal prodomain, caspase-1 belongs to the initiator group of caspases and is therefore suspected to act proximally in a caspase activation cascade leading to apoptosis.
Caspase-1 is synthesized as a proenzyme of 45kDa, which undergoes proteolytic cleavage at Asp residues to produce the active enzyme. The active caspase-1 enzyme is a hetrotetramer comprised of two P20 and two P10 subunits. The catalytic site is formed by amino acids from both P20 and P10 subunits, with the active cysteine located within the P20 subunit. Caspase-1 is activated through interactions with other CARD containing proteins such as ASC, RIP2 and NLRC4 via homotypic CARD-CARD interactions. Bacterial and viral proteins like SipB, IpaB, CrmA, and Serp2 which do not contain the CARD domain, also regulate caspase-1. Caspase-1 is activated by phosphorylation at serine 376 residue by PAK1 upon Helicobacter pylori infection.
Expression Caspase-1 is highly expressed in leukocytes, monocytes and epithelial cells.
Caspase-1 gene expression is induced in response to various stimuli such as microbial infections (Mycobacterium avium, Salmonella typhimurium, Legionella pneumophila, Bacillus anthracis, Francisella tularenis and bacterial LPS), cytokines (IFN-gamma and TNF-alpha), growth factors (TGF-beta), and DNA damaging agents (Doxorubicin, UV radiation and Paclitaxel). Levels of caspase-1 mRNA are high in ischemic tissues.
Tumor suppressor p53, p73, SP1, ETS-1, IFT57/HIPPI and IRF-1 activate transcription of full length caspase-1 mRNA by binding to respective sites in the promoter, within a region 550bp upstream of the transcription start site.
Localisation Predominantly cytoplasmic. See Table-1 and Table-2.
Function The adaptor molecules ASC, NLRC4 and Cryopyrin/Nalp3 regulate caspase-1 within a multiprotein complex known as the "Inflammasome". Caspase-1 activation results in cleavage and activation of proinflammatory cytokines such as IL-1beta and IL-18. Caspase-1 deficient mice have a defect in the maturation of proIL-1beta and are resistant to the lethal effect of endotoxins. Various pathogens such as S.typhimurium (TypeIII secretion), L.pneumophila (Type IV secretion), B.anthracis (Lethal Toxin), F.tularenis activate caspase-1 through "inflammasomes". Caspase-1 activation also occurs upon exposure to bacterial RNA, imidazoquilone compounds, LPS, extracellular ATP, muramyl dipeptide (MDP), monosodium urate, calcium pyrophosphate dehydrate and other TLR ligands via "inflammasomes". In addition to bacterial pathogens, viral infection also induces caspase-1 activation. Caspase-1 acts apically in neuronal cell death pathways induced by hypoxia and ischaemia. Caspase-1 is also involved in p53-mediated apoptosis in a cell type specific manner. Caspase-1 sensitizes cells to death induced by agents like Fas ligand, radiation and cisplatin. Caspase-1 stimulates membrane biogenesis to repair damage caused by pore-forming toxins, thereby promoting host cell survival.
Homology CARD of caspase-1 bears significant homology with the CARDs of Caspase-4, Caspase-5, SFRS2IP/Caspase-11, Caspase-12, ICEBERG, Nod1, NLRC4, NEDD2, cIAP2, cIAP3 and ced3.

Mutations

Germinal Not Known
Somatic Not Known

Implicated in

Note
Entity Various Diseases
Disease In diseases such as ischemic and hypoxia induced brain injury, acute bacterial meningitis, ischemia of the heart and kidney. A role for caspase-1 has been implicated in Amyotrophic Lateral Sclerosis, Huntington's disease, Parkinsons disease, Crohns disease, Age-related cognitive dysfunctions, spinalcord inflammation and gout. Caspase1- activation is enhanced in patients with CINCA syndrome.
  
Entity Cancers
Disease In ovarian Cancer and stomach Cancer: there is a decreased expression of caspase-1.
  

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Cytoplasmic flagellin activates caspase-1 and secretion of interleukin 1beta via Ipaf.
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PMID 16990128
 
Critical role for NALP3/CIAS1/Cryopyrin in innate and adaptive immunity through its regulation of caspase-1.
Sutterwala FS, Ogura Y, Szczepanik M, Lara-Tejero M, Lichtenberger GS, Grant EP, Bertin J, Coyle AJ, Gal´n JE, Askenase PW, Flavell RA
Immunity. 2006 ; 24 (3) : 317-327.
PMID 16546100
 
Involvement of caspase 1 and its activator Ipaf upstream of mitochondrial events in apoptosis.
Thalappilly S, Sadasivam S, Radha V, Swarup G
The FEBS journal. 2006 ; 273 (12) : 2766-2778.
PMID 16817903
 
Cryopyrin and pyrin activate caspase-1, but not NF-kappaB, via ASC oligomerization.
Yu JW, Wu J, Zhang Z, Datta P, Ibrahimi I, Taniguchi S, Sagara J, Fernandes-Alnemri T, Alnemri ES
Cell death and differentiation. 2006 ; 13 (2) : 236-249.
PMID 16037825
 
The Birc1e cytosolic pattern-recognition receptor contributes to the detection and control of Legionella pneumophila infection.
Zamboni DS, Kobayashi KS, Kohlsdorf T, Ogura Y, Long EM, Vance RE, Kuida K, Mariathasan S, Dixit VM, Flavell RA, Dietrich WF, Roy CR
Nature immunology. 2006 ; 7 (3) : 318-325.
PMID 16444259
 
Pattern of interleukin-1beta secretion in response to lipopolysaccharide and ATP before and after interleukin-1 blockade in patients with CIAS1 mutations.
Gattorno M, Tassi S, Carta S, Delfino L, Ferlito F, Pelagatti MA, D'Osualdo A, Buoncompagni A, Alpigiani MG, Alessio M, Martini A, Rubartelli A
Arthritis and rheumatism. 2007 ; 56 (9) : 3138-3148.
PMID 17763411
 
Interleukin-1beta and caspase-1: players in the regulation of age-related cognitive dysfunction.
Gemma C, Bickford PC
Reviews in the neurosciences. 2007 ; 18 (2) : 137-148.
PMID 17593876
 
Tumor necrosis factor-alpha-induced caspase-1 gene expression. Role of p73.
Jain N, Sudhakar Ch, Swarup G
The FEBS journal. 2007 ; 274 (17) : 4396-4407.
PMID 17725714
 
Interaction of HIPPI with putative promoter sequence of caspase-1 in vitro and in vivo.
Majumder P, Chattopadhyay B, Sukanya S, Ray T, Banerjee M, Mukhopadhyay D, Bhattacharyya NP
Biochemical and biophysical research communications. 2007 ; 353 (1) : 80-85.
PMID 17173859
 
NF-kappaB activation by the Toll-IL-1 receptor domain protein MyD88 adapter-like is regulated by caspase-1.
Miggin SM, Pålsson-McDermott E, Dunne A, Jefferies C, Pinteaux E, Banahan K, Murphy C, Moynagh P, Yamamoto M, Akira S, Rothwell N, Golenbock D, Fitzgerald KA, O'Neill LA
Proceedings of the National Academy of Sciences of the United States of America. 2007 ; 104 (9) : 3372-3377.
PMID 17360653
 
Activation of caspase-1 dependent interleukins in developmental brain trauma.
Sifringer M, Stefovska V, Endesfelder S, Stahel PF, Genz K, Dzietko M, Ikonomidou C, Felderhoff-Mueser U
Neurobiology of disease. 2007 ; 25 (3) : 614-622.
PMID 17188500
 
Anthrax lethal toxin-induced inflammasome formation and caspase-1 activation are late events dependent on ion fluxes and the proteasome.
Wickliffe KE, Leppla SH, Moayeri M
Cellular microbiology. 2008 ; 10 (2) : 332-343.
PMID 17850338
 

Citation

This paper should be referenced as such :
Kumar, Y ; Radha, V ; Swarup, G
CASP1 (caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase))
Atlas Genet Cytogenet Oncol Haematol. 2008;12(4):269-275.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/CASP1ID145ch11q22.html


External links

Nomenclature
HGNC (Hugo)CASP1   1499
Cards
AtlasCASP1ID145ch11q22
Entrez_Gene (NCBI)CASP1  834  caspase 1
AliasesICE; IL1BC; P45
GeneCards (Weizmann)CASP1
Ensembl hg19 (Hinxton)ENSG00000137752 [Gene_View]  chr11:104896237-104905884 [Contig_View]  CASP1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000137752 [Gene_View]  chr11:104896237-104905884 [Contig_View]  CASP1 [Vega]
ICGC DataPortalENSG00000137752
TCGA cBioPortalCASP1
AceView (NCBI)CASP1
Genatlas (Paris)CASP1
WikiGenes834
SOURCE (Princeton)CASP1
Genomic and cartography
GoldenPath hg19 (UCSC)CASP1  -     chr11:104896237-104905884 -  11q23   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CASP1  -     11q23   [Description]    (hg38-Dec_2013)
EnsemblCASP1 - 11q23 [CytoView hg19]  CASP1 - 11q23 [CytoView hg38]
Mapping of homologs : NCBICASP1 [Mapview hg19]  CASP1 [Mapview hg38]
OMIM147678   
Gene and transcription
Genbank (Entrez)AA505065 AA737419 AA761907 AB102878 AK223503
RefSeq transcript (Entrez)NM_001223 NM_001257118 NM_001257119 NM_033292 NM_033293 NM_033294 NM_033295
RefSeq genomic (Entrez)NC_000011 NC_018922 NG_029124 NT_033899 NW_004929381
Consensus coding sequences : CCDS (NCBI)CASP1
Cluster EST : UnigeneHs.2490 [ NCBI ]
CGAP (NCI)Hs.2490
Alternative Splicing GalleryENSG00000137752
Gene ExpressionCASP1 [ NCBI-GEO ]   CASP1 [ EBI - ARRAY_EXPRESS ]   CASP1 [ SEEK ]   CASP1 [ MEM ]
Gene Expression Viewer (FireBrowse)CASP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)834
GTEX Portal (Tissue expression)CASP1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP29466 (Uniprot)
NextProtP29466  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP29466
Splice isoforms : SwissVarP29466 (Swissvar)
Catalytic activity : Enzyme3.4.22.36 [ Enzyme-Expasy ]   3.4.22.363.4.22.36 [ IntEnz-EBI ]   3.4.22.36 [ BRENDA ]   3.4.22.36 [ KEGG ]   
PhosPhoSitePlusP29466
Domaine pattern : Prosite (Expaxy)CARD (PS50209)    CASPASE_CYS (PS01122)    CASPASE_HIS (PS01121)    CASPASE_P10 (PS50207)    CASPASE_P20 (PS50208)   
Domains : Interpro (EBI)CARD    Caspase-like_dom    Caspase_cys_AS    Caspase_his_AS    DEATH-like_dom    Pept_C14_p10    Pept_C14_p20    Pept_C14A    Pept_C14A_HD   
Domain families : Pfam (Sanger)CARD (PF00619)   
Domain families : Pfam (NCBI)pfam00619   
Domain families : Smart (EMBL)CARD (SM00114)  CASc (SM00115)  
DMDM Disease mutations834
Blocks (Seattle)CASP1
PDB (SRS)1BMQ    1IBC    1ICE    1RWK    1RWM    1RWN    1RWO    1RWP    1RWV    1RWW    1RWX    1SC1    1SC3    1SC4    2FQQ    2H48    2H4W    2H4Y    2H51    2H54    2HBQ    2HBR    2HBY    2HBZ    3D6F    3D6H    3D6M    3E4C    3NS7   
PDB (PDBSum)1BMQ    1IBC    1ICE    1RWK    1RWM    1RWN    1RWO    1RWP    1RWV    1RWW    1RWX    1SC1    1SC3    1SC4    2FQQ    2H48    2H4W    2H4Y    2H51    2H54    2HBQ    2HBR    2HBY    2HBZ    3D6F    3D6H    3D6M    3E4C    3NS7   
PDB (IMB)1BMQ    1IBC    1ICE    1RWK    1RWM    1RWN    1RWO    1RWP    1RWV    1RWW    1RWX    1SC1    1SC3    1SC4    2FQQ    2H48    2H4W    2H4Y    2H51    2H54    2HBQ    2HBR    2HBY    2HBZ    3D6F    3D6H    3D6M    3E4C    3NS7   
PDB (RSDB)1BMQ    1IBC    1ICE    1RWK    1RWM    1RWN    1RWO    1RWP    1RWV    1RWW    1RWX    1SC1    1SC3    1SC4    2FQQ    2H48    2H4W    2H4Y    2H51    2H54    2HBQ    2HBR    2HBY    2HBZ    3D6F    3D6H    3D6M    3E4C    3NS7   
Structural Biology KnowledgeBase1BMQ    1IBC    1ICE    1RWK    1RWM    1RWN    1RWO    1RWP    1RWV    1RWW    1RWX    1SC1    1SC3    1SC4    2FQQ    2H48    2H4W    2H4Y    2H51    2H54    2HBQ    2HBR    2HBY    2HBZ    3D6F    3D6H    3D6M    3E4C    3NS7   
SCOP (Structural Classification of Proteins)1BMQ    1IBC    1ICE    1RWK    1RWM    1RWN    1RWO    1RWP    1RWV    1RWW    1RWX    1SC1    1SC3    1SC4    2FQQ    2H48    2H4W    2H4Y    2H51    2H54    2HBQ    2HBR    2HBY    2HBZ    3D6F    3D6H    3D6M    3E4C    3NS7   
CATH (Classification of proteins structures)1BMQ    1IBC    1ICE    1RWK    1RWM    1RWN    1RWO    1RWP    1RWV    1RWW    1RWX    1SC1    1SC3    1SC4    2FQQ    2H48    2H4W    2H4Y    2H51    2H54    2HBQ    2HBR    2HBY    2HBZ    3D6F    3D6H    3D6M    3E4C    3NS7   
SuperfamilyP29466
Human Protein AtlasENSG00000137752
Peptide AtlasP29466
HPRD00977
IPIIPI00021800   IPI00219307   IPI00219308   IPI00219309   IPI00219310   IPI00977774   IPI00979734   IPI00554551   
Protein Interaction databases
DIP (DOE-UCLA)P29466
IntAct (EBI)P29466
FunCoupENSG00000137752
BioGRIDCASP1
STRING (EMBL)CASP1
ZODIACCASP1
Ontologies - Pathways
QuickGOP29466
Ontology : AmiGOresponse to hypoxia  endopeptidase activity  cysteine-type endopeptidase activity  protein binding  extracellular region  mitochondrion  cytosol  proteolysis  apoptotic process  activation of cysteine-type endopeptidase activity involved in apoptotic process  signal transduction  cysteine-type endopeptidase activator activity involved in apoptotic process  regulation of autophagy  response to lipopolysaccharide  interleukin-1 beta production  response to ATP  regulation of apoptotic process  positive regulation of I-kappaB kinase/NF-kappaB signaling  positive regulation of interleukin-1 alpha secretion  positive regulation of interleukin-1 beta secretion  regulation of inflammatory response  mitochondrial depolarization  membrane hyperpolarization  pyroptosis  cellular response to mechanical stimulus  cellular response to organic substance  IPAF inflammasome complex  IPAF inflammasome complex  NLRP1 inflammasome complex  NLRP3 inflammasome complex  cysteine-type endopeptidase activity involved in apoptotic process  AIM2 inflammasome complex  programmed necrotic cell death  toxin transport  
Ontology : EGO-EBIresponse to hypoxia  endopeptidase activity  cysteine-type endopeptidase activity  protein binding  extracellular region  mitochondrion  cytosol  proteolysis  apoptotic process  activation of cysteine-type endopeptidase activity involved in apoptotic process  signal transduction  cysteine-type endopeptidase activator activity involved in apoptotic process  regulation of autophagy  response to lipopolysaccharide  interleukin-1 beta production  response to ATP  regulation of apoptotic process  positive regulation of I-kappaB kinase/NF-kappaB signaling  positive regulation of interleukin-1 alpha secretion  positive regulation of interleukin-1 beta secretion  regulation of inflammatory response  mitochondrial depolarization  membrane hyperpolarization  pyroptosis  cellular response to mechanical stimulus  cellular response to organic substance  IPAF inflammasome complex  IPAF inflammasome complex  NLRP1 inflammasome complex  NLRP3 inflammasome complex  cysteine-type endopeptidase activity involved in apoptotic process  AIM2 inflammasome complex  programmed necrotic cell death  toxin transport  
Pathways : BIOCARTACaspase Cascade in Apoptosis [Genes]    D4-GDI Signaling Pathway [Genes]    IL 18 Signaling Pathway [Genes]   
Pathways : KEGGNOD-like receptor signaling pathway    Cytosolic DNA-sensing pathway    Amyotrophic lateral sclerosis (ALS)    Salmonella infection    Pertussis    Legionellosis    Influenza A   
REACTOMEP29466 [protein]
REACTOME PathwaysR-HSA-844456 The NLRP3 inflammasome [pathway]
REACTOME PathwaysR-HSA-168638 NOD1/2 Signaling Pathway [pathway]
REACTOME PathwaysR-HSA-844615 The AIM2 inflammasome [pathway]
REACTOME PathwaysR-HSA-448706 Interleukin-1 processing [pathway]
REACTOME PathwaysR-HSA-844623 The IPAF inflammasome [pathway]
NDEx Network
Atlas of Cancer Signalling NetworkCASP1
Wikipedia pathwaysCASP1
Orthology - Evolution
OrthoDB834
GeneTree (enSembl)ENSG00000137752
Phylogenetic Trees/Animal Genes : TreeFamCASP1
Homologs : HomoloGeneCASP1
Homology/Alignments : Family Browser (UCSC)CASP1
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerCASP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CASP1
dbVarCASP1
ClinVarCASP1
1000_GenomesCASP1 
Exome Variant ServerCASP1
ExAC (Exome Aggregation Consortium)CASP1 (select the gene name)
Genetic variants : HAPMAP834
Genomic Variants (DGV)CASP1 [DGVbeta]
Mutations
ICGC Data PortalCASP1 
TCGA Data PortalCASP1 
Broad Tumor PortalCASP1
OASIS PortalCASP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCASP1 
intOGen PortalCASP1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
BioMutasearch CASP1
DgiDB (Drug Gene Interaction Database)CASP1
DoCM (Curated mutations)CASP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CASP1 (select a term)
intoGenCASP1
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)11:104896237-104905884  ENSG00000137752
CONAN: Copy Number AnalysisCASP1 
Mutations and Diseases : HGMDCASP1
OMIM147678   
MedgenCASP1
Genetic Testing Registry CASP1
NextProtP29466 [Medical]
TSGene834
GENETestsCASP1
Huge Navigator CASP1 [HugePedia]
snp3D : Map Gene to Disease834
BioCentury BCIQCASP1
ClinGenCASP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD834
Chemical/Pharm GKB GenePA26083
Clinical trialCASP1
Miscellaneous
canSAR (ICR)CASP1 (select the gene name)
Probes
Litterature
PubMed232 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCASP1
EVEXCASP1
GoPubMedCASP1
iHOPCASP1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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