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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CASP1 Gene

protein-coding   GIFtS: 74
GCID: GC11M104898

Caspase 1, Apoptosis-Related Cysteine Peptidase

(Previous names: caspase 1, apoptosis-related cysteine protease (interleukin...)
(Previous symbol: IL1BC)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Caspase 1, Apoptosis-Related Cysteine Peptidase1 2     P452
IL1BC1 2 3 5     CASP1 Nirs Variant 12
Caspase 1, Apoptosis-Related Cysteine Peptidase (Interleukin 1, Beta,
Convertase)1 2
     Interleukin 1, Beta, Convertase2
caspase-11 2     Interleukin 1-B Converting Enzyme2
ICE2 3     CASP-13
IL-1 Beta-Converting Enzyme2 3     IL-1BC3
EC 3.4.22.363 8     IL1BCE3
beta1     Interleukin-1 Beta Convertase3
Caspase 1, Apoptosis-Related Cysteine Protease (Interleukin 1, Beta,
Convertase)1
     Interleukin-1 Beta-Converting Enzyme3
convertase1     p453
Interleukin 11     EC 3.4.228
IL1B-convertase2     

External Ids:    HGNC: 14991   Entrez Gene: 8342   Ensembl: ENSG000001377527   OMIM: 1476785   UniProtKB: P294663   

Export aliases for CASP1 gene to outside databases

Previous GC identifers: GC11M107089 GC11M106252 GC11M104930 GC11M104433 GC11M104401 GC11M104897


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CASP1 Gene:
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 2 subunits, large and
small, that dimerize to form the active enzyme. This gene was identified by its ability to proteolytically cleave
and activate the inactive precursor of interleukin-1, a cytokine involved in the processes such as inflammation,
septic shock, and wound healing. This gene has been shown to induce cell apoptosis and may function in various
developmental stages. Studies of a similar gene in mouse suggest a role in the pathogenesis of Huntington
disease. Alternative splicing results in transcript variants encoding distinct isoforms. (provided by RefSeq, Mar
2012)

GeneCards Summary for CASP1 Gene: 
CASP1 (caspase 1, apoptosis-related cysteine peptidase) is a protein-coding gene. Diseases associated with CASP1 include paratyphoid fever, and shigellosis, and among its related super-pathways are NOD1/2 Signaling Pathway and Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway. GO annotations related to this gene include cysteine-type endopeptidase activity and cysteine-type endopeptidase activator activity involved in apoptotic process. An important paralog of this gene is CASP16.

UniProtKB/Swiss-Prot: CASP1_HUMAN, P29466
Function: Thiol protease that cleaves IL-1 beta between an Asp and an Ala, releasing the mature cytokine which is
involved in a variety of inflammatory processes. Important for defense against pathogens. Cleaves and activates
sterol regulatory element binding proteins (SREBPs). Can also promote apoptosis

summary for CASP1 Gene:
Caspases (short for 'cysteinyl aspartate proteases') are involved in the signal transduction pathways of
apoptosis, necrosis and inflammation. These enzymes can be divided into two major classes - initiators and
effectors. The initiator isoforms (caspases-1,-4,-5,-8,-9,-10,-11,-12) are activated by, and interact with,
upstream adaptor molecules through protein-protein interaction domains known as CARD and DED. Effector
caspases (-3,-6,-7) are responsible for cleaving downstream substrates and are sometimes referred to as the
executioner caspases. More than 400 caspase substrates have so far been identified (see The Caspase
Substrate Database). Initiator caspases, such as caspase 8, may be directly activated by death receptors
such as FasR. Caspases can also be found intracellularly as part of large multiprotein complexes. For
example, caspase 9 is recruited to the apoptosome formed during apoptosis, whilst caspases-1 and 5 can form
part of the inflammasome, a key part of cytokine processing during inflammation. Caspases are regulated by
inhibitors of apoptosis and by dominant negative isoforms. They have been implicated in the pathogenesis of
many disorders including stroke, Alzheimer's disease, myocardial infarction, cancer, and inflammatory
disease.

Gene Wiki entry for CASP1 (Caspase 1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.2  NT_033899.8  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CASP1 gene promoter:
         C/EBPbeta   ISGF-3   AP-1   ATF-2   IRF-1   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCASP1 promoter sequence
   Search SABiosciences Chromatin IP Primers for CASP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CASP1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q23   Ensembl cytogenetic band:  11q22.3   HGNC cytogenetic band: 11q23

CASP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CASP1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M104898:  view genomic region     (about GC identifiers)

Start:
104,896,170 bp from pter      End:
104,972,158 bp from pter
Size:
75,989 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CASP1_HUMAN, P29466 (See protein sequence)
Recommended Name: Caspase-1 precursor  
Size: 404 amino acids; 45159 Da
Subunit: Heterotetramer that consists of two anti-parallel arranged heterodimers, each one formed by a 20 kDa
(p20) and a 10 kDa (p10) subunit. The p20 subunit can also form a heterodimer with the epsilon isoform which then
has an inhibitory effect. May be a component of the inflammasome, a protein complex which also includes PYCARD,
CARD8 and NALP2 and whose function would be the activation of proinflammatory caspases. Interacts with
CARD17/INCA and CARD18
Subcellular location: Cytoplasm
Sequence caution: Sequence=AAT72297.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAT72297.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact;
6/29 PDB 3D structures from and Proteopedia for CASP1 (see all 29):
1BMQ (3D)        1IBC (3D)        1ICE (3D)        1RWK (3D)        1RWM (3D)        1RWN (3D)    
Secondary accessions: B5MDZ1 Q53EY6 Q6DMQ1 Q6GSS3 Q6PI75 Q9UCN3
Alternative splicing: 5 isoforms:  P29466-1   P29466-2   P29466-3   P29466-4   P29466-5   (Apoptosis inactive)

Explore the universe of human proteins at neXtProt for CASP1: NX_P29466

Explore proteomics data for CASP1 at MOPED 

Post-translational modifications:

  • UniProtKB: The two subunits are derived from the precursor sequence by an autocatalytic mechanism
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P29466

  • 4/7 DME Specific Peptides for CASP1 (P29466) (see all 7)
     NGLLDEL  IIQACRG  SDSTFLV  DKPKVII 

    CASP1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CASP1 Protein Expression
    REFSEQ proteins (7 alternative transcripts): 
    NP_001214.1  NP_001244047.1  NP_001244048.1  NP_150634.1  NP_150635.1  NP_150636.1  NP_150637.1  

    ENSEMBL proteins: 
     ENSP00000435536   ENSP00000434250   ENSP00000432340   ENSP00000433138   ENSP00000410076  
     ENSP00000434779   ENSP00000434303   ENSP00000436875   ENSP00000431947   ENSP00000434259  
     ENSP00000470811   ENSP00000469724   ENSP00000472457   ENSP00000408446   ENSP00000403260  
     ENSP00000344132   ENSP00000376844  
    Reactome Protein details: P29466
    Human Recombinant Protein Products for CASP1: 
    EMD Millipore Purified and/or Recombinant CASP1 Protein
    Browse R&D Systems for human recombinant proteins
    Enzo Life Sciences proteins for CASP1
    OriGene Purified Protein for CASP1
    OriGene Protein Over-expression Lysate for CASP1
    OriGene MassSpec for CASP1 
    OriGene Custom Protein Services for CASP1
    GenScript Custom Purified and Recombinant Proteins Services for CASP1
    Novus Biologicals CASP1 Proteins
    Novus Biologicals CASP1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CASP1 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005622intracellular ----
    GO:0005829cytosol TAS--
    GO:0072557IPAF inflammasome complex ISS--
    GO:0072558NLRP1 inflammasome complex IDA12191486

    CASP1 for ontologies           About GeneDecksing



    CASP1 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of CASP1
    R&D Systems Antibodies for CASP1 (Caspase-1)
    Cell Signaling Technology (CST) Antibodies for CASP1 
    OriGene Antibodies for CASP1
    OriGene Custom Antibody Services for CASP1
    GenScript Custom Superior Antibodies Services for CASP1
    Novus Biologicals CASP1 Antibodies
    Abcam antibodies for CASP1
    Cloud-Clone Corp. Antibodies for CASP1 
    ThermoFisher Antibody for CASP1
    LSBio Antibodies in human, mouse, rat for CASP1 

    Assay Products for CASP1: 
    EMD Millipore Kits and Assays for the Analysis of CASP1
    OriGene Custom Assay Services for CASP1
    R&D Systems ELISAs for CASP1 (Caspase-1)         (see all)
    GenScript CASP1-Activity-based Protease Assay for Compound Screening
    Enzo Life Sciences assays for CASP1
    Cloud-Clone Corp. ELISAs for CASP1 
    Cloud-Clone Corp. CLIAs for CASP1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    CASP: Caspases

    IUPHAR Guide to PHARMACOLOGY protein family classification: Caspase 1 
    Caspases

    5/9 InterPro protein domains (see all 9):
     IPR001309 Pept_C14_ICE_p20
     IPR011029 DEATH-like_dom
     IPR017350 Caspase_IL-1_beta
     IPR002138 Pept_C14_p10
     IPR015917 Pept_C14_p45_core

    Graphical View of Domain Structure for InterPro Entry P29466

    ProtoNet protein and cluster: P29466

    4 Blocks protein domains:
    IPB000873 AMP-binding signature
    IPB001309 Caspase-1
    IPB001315 CARD interaction domain
    IPB002398 Interleukin-1B converting enzyme signature


    UniProtKB/Swiss-Prot: CASP1_HUMAN, P29466
    Similarity: Belongs to the peptidase C14A family
    Similarity: Contains 1 CARD domain


    CASP1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CASP1_HUMAN, P29466
    Function: Thiol protease that cleaves IL-1 beta between an Asp and an Ala, releasing the mature cytokine which is
    involved in a variety of inflammatory processes. Important for defense against pathogens. Cleaves and activates
    sterol regulatory element binding proteins (SREBPs). Can also promote apoptosis
    Catalytic activity: Strict requirement for an Asp residue at position P1 and has a preferred cleavage sequence of
    Tyr-Val-Ala-Asp- -
    Enzyme regulation: Specifically inhibited by the cowpox virus Crma protein

         Genatlas biochemistry entry for CASP1:
    caspase 1,cysteine containing aspartate-specific protease,including isoforms delta,gamma,epsilon,specific for IL1B
    and IL18,involved in procytokine activation,stored in the mitochondrial intermembrane space and released into
    cytosol after appropriate apoptotic stimuli,promoting apoptosis

         Enzyme Numbers (IUBMB): EC 3.4.22.361 2 EC 3.4.222

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004197cysteine-type endopeptidase activity TAS--
    GO:0005515protein binding IPI11374873
    GO:0008233peptidase activity ----
    GO:0008234cysteine-type peptidase activity ----
    GO:0008656cysteine-type endopeptidase activator activity involved in apoptotic process TAS10799503
         
    CASP1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CASP1:
     Elongated cells with protrusio 

         12 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Casp1):
     cardiovascular system  cellular  digestive/alimentary  hematopoietic system  homeostasis/metabolism 
     immune system  integument  mortality/aging  nervous system  renal/urinary system 
     reproductive system  tumorigenesis 

    CASP1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for CASP1: Casp1/Casp4Casp1/tm1Bhk Casp1tm1Flv Casp1tm1Sesh

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CASP1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CASP1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CASP1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CASP1 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CASP1
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate CASP1
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for CASP1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CASP1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CASP1
    Sirion Biotech Customized adenovirus for overexpression of CASP1

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for CASP1 (see all 30)
    OriGene ORF clones in mouse, rat for CASP1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 5): CASP1 (NM_033292)
    Sino Biological Human cDNA Clone for CASP1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CASP1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CASP1
    Sirion Biotech Customized lentivirus for stable overexpression of CASP1 
                         Customized lentivirus expression plasmids for stable overexpression of CASP1 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for CASP1
    Search LifeMap BioReagents cell lines for CASP1
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CASP1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CASP1 About   (see all 41)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways
    Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways0.69
    NOD-like receptor signaling pathway0.37
    NOD1/2 Signaling Pathway0.69
    NOD pathway0.33
    2Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway
    Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway0.93
    Parkin-Ubiquitin Proteasomal System pathway0.89
    3p53 Pathway
    p53 Signaling0.38
    p53 Pathway0.38
    4Pathogenesis of ALS
    Amyotrophic lateral sclerosis (ALS)0.31
    Pathogenesis of ALS0.31
    5TWEAK Pathway
    TNF Signaling0.55
    Fas Signaling0.35
    GITR Pathway0.46

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    4 EMD Millipore Pathways for CASP1
        G-protein signaling Regulation of CDC42 activity
    Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway
    Selected targets of p53
    G-protein signaling Regulation of RAC1 activity

    2 R&D Systems Pathways for CASP1
        NOD-like Receptor Signaling Pathways
    Inflammasome Activation Pathways

    5/16 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CASP1 (see all 16)
        Caspase Cascade
    S-1P Stimulated Signaling
    14-3-3 Induced Apoptosis
    DHA Signaling
    Endothelin-1 Signaling Pathway

    1 Cell Signaling Technology (CST) Pathway for CASP1
        Apoptosis and Autophagy

    3 GeneGo (Thomson Reuters) Pathways for CASP1
        G-protein signaling Regulation of RAC1 activity
    Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway
    G-protein signaling Regulation of CDC42 activity

    5/9 BioSystems Pathways for CASP1 (see all 9)
        MAPK signaling pathway
    Apoptosis
    NOD pathway
    Parkin-Ubiquitin Proteasomal System pathway
    Cellular roles of Anthrax toxin

    3 Sino Biological Pathways for CASP1 
        EGFR Signaling Pathway
    p53 Pathway
    Death Receptor Signaling

    5/11        Reactome Pathways for CASP1 (see all 11)
        Cytokine Signaling in Immune system
    Inflammasomes
    Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways
    Interleukin-1 processing
    The AIM2 inflammasome


    5/7         Kegg Pathways  (Kegg details for CASP1) (see all 7):
        NOD-like receptor signaling pathway
    Cytosolic DNA-sensing pathway
    Amyotrophic lateral sclerosis (ALS)
    Salmonella infection
    Pertussis


    CASP1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CASP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/76 Interacting proteins for CASP1 (P294661, 2, 3 ENSP000004100764) via UniProtKB, MINT, STRING, and/or I2D (see all 76)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RIPK2O433532, 3, ENSP000002207514MINT-14090 I2D: score=5 STRING: ENSP00000220751
    IL1AP015831, 3, ENSP000002633394EBI-516667,EBI-1749782 I2D: score=2 STRING: ENSP00000263339
    NLRC4Q9NPP41, 2, 3, ENSP000003541594EBI-516667,EBI-1222527 MINT-16578 MINT-16579 I2D: score=5 STRING: ENSP00000354159
    FGF2P090381, 3, ENSP000002644984EBI-516667,EBI-977447 I2D: score=2 STRING: ENSP00000264498
    IL18Q141163, ENSP000002803574I2D: score=4 STRING: ENSP00000280357
    About this table

    Gene Ontology (GO): 5/21 biological process terms (GO ID links to tree view) (see all 21):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001666response to hypoxia IEA--
    GO:0006508proteolysis IDA12888622
    GO:0006915apoptotic process TAS7876192
    GO:0006919activation of cysteine-type endopeptidase activity involved in apoptotic process TAS10799503
    GO:0007165signal transduction TAS1373520

    CASP1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CASP1 for compounds           About GeneDecksing

    EMD Millipore small molecules for CASP1:
    Small Molecule - inhibitor
    Enzo Life Sciences drugs & compounds for CASP1

    Compounds for CASP1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    AZ 10417808Selective non-peptide caspase-3 inhibitor[331645-84-2]
    Z-DQMD-FMKCaspase-3 inhibitor--
    CisplatinPotent pro-apoptotic anticancer agent; activates caspase-3[15663-27-1]
    Z-DEVD-FMK Cell-permeable, irreversible caspase-3 inhibitor --
    Z-VAD-FMK Cell-permeable, irreversible caspase inhibitor [187389-52-2]

    4 DrugBank Compounds for CASP1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Minocycline-- 10118-90-8targetnegative modulator17192486 11383749 18977395 10888929
    1-METHYL-3-TRIFLUOROMETHYL-1H-THIENO[2,3-C]PYRAZOLE-5-CARBOXYLIC ACID (2-MERCAPTO-ETHYL)-AMIDE-- --target--10592235
    3-[2-(2-BENZYLOXYCARBONYLAMINO-3-METHYL-BUTYRYLAMINO)-PROPIONYLAMINO]-4-OXO-PENTANOIC ACID-- --target--10592235
    3-{6-[(8-HYDROXY-QUINOLINE-2-CARBONYL)-AMINO]-2-THIOPHEN-2-YL-HEXANOYLAMINO}-4-OXO-BUTYRI ACID-- --target--10592235

    1 IUPHAR Ligand for CASP1 (Caspase 1)    About this table 
    LigandTypeActionAffinityPubmed IDs
    Z-YVAD-FMK
    InhibitorInhibition12097652

    10/124 Novoseek inferred chemical compound relationships for CASP1 gene (see all 124)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    acetyl-tyr-val-ala-asp-cho 78 3 9770325 (1), 10496353 (1), 10229667 (1)
    pralnacasan 75.7 5 14610233 (2), 11772244 (1), 11966457 (1), 12789619 (1)
    cysteine 74.3 141 8761296 (3), 9015748 (2), 9070923 (2), 20170165 (2) (see all 95)
    z-vad-fmk 73.1 6 8656677 (1), 9357850 (1), 8917679 (1), 9271410 (1)
    anakinra 66.6 4 18474815 (2), 18311798 (2)
    tetrapeptide 66.1 15 8972182 (1), 10194182 (1), 15389593 (1), 8620480 (1) (see all 13)
    ag-126 54.3 1 11056157 (1)
    flagellin 49.5 14 16648852 (4), 16984919 (2), 17696608 (2), 18081695 (1) (see all 7)
    evodiamine 48.9 3 12567888 (1), 12708481 (1), 14600398 (1)
    tlck 45.2 1 8554575 (1)

    Search CenterWatch for drugs/clinical trials and news about CASP1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CASP1 gene (7 alternative transcripts): 
    NM_001223.4  NM_001257118.1  NM_001257119.1  NM_033292.3  NM_033293.3  NM_033294.3  NM_033295.3  

    Unigene Cluster for CASP1:

    Caspase 1, apoptosis-related cysteine peptidase
    Hs.2490  [show with all ESTs]
    Unigene Representative Sequence: NM_001257118
    18/21 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
    ENST00000532439 ENST00000527625 ENST00000526568(uc001pig.3 uc021qpr.1 uc021qps.1 uc021qpu.1 uc021qpt.1 uc010rvf.2 uc010rvh.2)
    ENST00000527979 ENST00000533400(uc001pim.4 uc009yxi.3) ENST00000436863(uc021qpp.1 uc021qpq.1 uc010rvj.2 uc010rve.2 uc010rvg.2)
    ENST00000525825(uc021qpv.1) ENST00000531166(uc021qpx.1) ENST00000534497(uc021qpw.1)
    ENST00000529871(uc009yxj.3) ENST00000528974(uc010rvk.2) ENST00000526511(uc010rvl.2)
    ENST00000528424 ENST00000532520 ENST00000598974 ENST00000593315 ENST00000594519
    ENST00000415981(uc010rvi.2)
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AB102878.1 AK223503.1 AK290114.1 AK290122.1 AK296646.1 AK301037.1 AK310059.1 AK313516.1 
    AY660536.1 BC041689.2 BC062327.1 M87507.1 U13697.1 U13698.1 U13699.1 U13700.1 
    X65019.1 

    14 DOTS entries:

    DT.95099765  DT.120721408  DT.100741603  DT.97842115  DT.102842639  DT.413140  DT.75156932  DT.91816608 
    DT.99959820  DT.318194  DT.95136720  DT.101974184  DT.102842638  DT.97842116 

    24/135 AceView cDNA sequences (see all 135):

    U13697 BC062327 BM920134 AU134631 BG215796 BX505922 AW239393 AI081712 
    BC070196 CR592117 AU076811 BQ673033 AU098419 BG390044 AK125640 BC041689 
    X65019 BM552543 BI818813 AI493806 BI819700 BM457265 CF128937 M87507 

    GeneLoc Exon Structure

    5/21 Alternative Splicing Database (ASD) splice patterns (SP) for CASP1 (see all 21)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c · 12d ^ 13a · 13b ^ 14 ^ 15a · 15b · 15c ^
    SP1:        -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -   
    SP2:                                -                                                                                                                           
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 16a · 16b ^ 17a · 17b ^ 18a · 18b ^ 19 ^ 20a · 20b · 20c ^ 21a · 21b · 21c · 21d · 21e ^ 22a · 22b · 22c ^ 23 ^ 24a · 24b · 24c ^ 25a · 25b ^ 26a · 26b
    SP1:  -     -     -                                         -                                                                                                   
    SP2:                                                                                                                                                            
    SP3:              -                                         -                                                                                                   
    SP4:              -     -                                   -                                                                                                   
    SP5:                                                                                                                    -           -                           


    ECgene alternative splicing isoforms for CASP1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CASP1 expression in normal human tissues (normalized intensities)      CASP1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGAATACCA
    CASP1 Expression
    About this image


    CASP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/11 selected tissues (see all 11) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
     
     Fibroblast (Respiratory System)    fully expand to see all 2 entries
             Human Pulmonary Fibroblasts (HPF)   
     
     Endothelium (Cardiovascular System)    fully expand to see all 2 entries
             Endothelial-like cells ( Derivation and purification of endothelial precursor cells...
     
     Peripheral Nervous System (Nervous System)
             Schwann Precursor Cells Peripheral Nerve Domain
     
     Bone (Muscoskeletal System)
             Zeugopod Periosteum

    See CASP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CASP1

    SOURCE GeneReport for Unigene cluster: Hs.2490

    UniProtKB/Swiss-Prot: CASP1_HUMAN, P29466
    Tissue specificity: Expressed in larger amounts in spleen and lung. Detected in liver, heart, small intestine,
    colon, thymus, prostate, skeletal muscle, peripheral blood leukocytes, kidney and testis. No expression in the
    brain

        SABiosciences Expression via Pathway-Focused PCR Arrays including CASP1 (see all 15): 
              Parkinson's Disease in human mouse rat
              Antiviral Response in human mouse rat
              Inflammasomes in human mouse rat
              Apoptosis in human mouse rat
              Stress & Toxicity PathwayFinder in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for CASP1 gene from 7/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Casp11 , 5 caspase 11, 5 72.8(n)1
    62.44(a)1
      9 (2.46 cM)5
    123621  NM_009807.21  NP_033937.21 
     52985175 
    chicken
    (Gallus gallus)
    Aves CASP11 caspase 1, apoptosis-related cysteine peptidase 55.06(n)
    45.03(a)
      395764  XM_003642384.1  XP_003642432.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    46(a)
    1 → many
    GL344618.1(3490-9499)
    African clawed frog
    (Xenopus laevis)
    Amphibia casp1-A2 caspase 1b, apoptosis-related cysteine protease (interleukin more 76.12(n)    D89785.1 
    zebrafish
    (Danio rerio)
    Actinopterygii caspa6
    caspb6
    (see all 5)
    caspase b
    (see all 5)
    32(a)
    28(a)
    (see all 5)
    many ↔ many
    many ↔ many
    (see all 5)
    16(44763011-44774004)
    1(59387147-59406072)
    fruit fly
    (Drosophila melanogaster)
    Insecta Nc6
    Nedd2-like caspase
    16(a)
    1 → many
    3L(9961579-9964102)
    worm
    (Caenorhabditis elegans)
    Secernentea csp-26
    ced-36
    (see all 4)
    Protein CSP-2
    Cell death protein 3 Cell death protein 3 subunit ...
    (see all 4)
    7(a)
    13(a)
    (see all 4)
    many ↔ many
    many ↔ many
    (see all 4)
    IV(6307739-6315719)
    IV(13199230-13204129)


    ENSEMBL Gene Tree for CASP1 (if available)
    TreeFam Gene Tree for CASP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CASP1 gene
    CASP162  CASP62  CASP82  CASP122  CASP92  CASP72  CASP32  CASP22  
    CASP142  CASP52  CASP102  CASP42  
    9 SIMAP similar genes for CASP1 using alignment to 5 protein entries:     CASP1_HUMAN (see all proteins):
    CARD17    CARD16    DKFZp586A181    LOC643733    mih1/Tx    CARD18
    CASP12    CASP4    CASP5

    CASP1 for paralogs           About GeneDecksing


    4 Pseudogenes.org Pseudogenes for CASP1
    PGOHUM00000257861 PGOHUM00000257862 PGOHUM00000257863 PGOHUM00000242460


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/361 SNPs in CASP1 are shown (see all 361)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs5075091,2
    C,F,H--104759748(-) GACAGC/TGACAG 7 -- ds5001 int126Minor allele frequency- T:0.11NS EA NA CSA WA 2520
    rs5074381,2
    C,F,H--104759773(-) GAGACG/AGGGGA 7 -- ds5001 int111Minor allele frequency- A:0.09NS EA NA CSA WA 656
    rs1177776361,2
    F--104759873(+) TTTTTT/CTAAAA 7 -- ds5001 int11Minor allele frequency- C:0.01NA 120
    rs1907271121,2
    --104759904(+) GTTCAA/TGAAAG 7 -- ds5001 int10--------
    rs5040541,2
    C,F,H--104759919(+) TAATAA/GCATTG 7 -- ds5001 int111Minor allele frequency- G:0.10NS EA NA CSA WA 626
    rs1167382611,2
    F--104759929(+) GCTATG/ATTTGT 7 -- ds5001 int11Minor allele frequency- A:0.02WA 118
    rs1841721301,2
    --104759960(+) AATTTG/TTATAT 7 -- ds5001 int10--------
    rs1396034151,2
    --104759964(+) TTTATA/GTTTTA 7 -- ds5001 int10--------
    rs71125921,2
    C,F,H--104759986(+) GTTCTG/TGGAAA 7 -- ds5001 int110Minor allele frequency- T:0.06NS EA NA WA 1310
    rs4833451,2
    C,F,A,H--104760098(-) GTCCTC/TATTTT 7 -- ds5001 int121Minor allele frequency- T:0.11EA NA NS CSA WA 2002

    HapMap Linkage Disequilibrium report for CASP1 (104896170 - 104972158 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/24 variations for CASP1 (see all 24):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2421755CNV Deletion20811451
    esv2663609CNV Deletion23128226
    esv2745018CNV Deletion23290073
    nsv524985CNV Loss19592680
    nsv8870CNV Loss18304495
    nsv470CNV Loss18451855
    nsv818862CNV Loss17921354
    nsv517089CNV Loss19592680
    esv23696CNV Loss19812545
    nsv514588CNV Loss21397061


    Human Gene Mutation Database (HGMD): CASP1
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 147678    OMIM disorders: --

    20/108 diseases for CASP1 (see all 108):    About MalaCards
    paratyphoid fever    shigellosis    cowpox    pneumococcal meningitis
    chronic infantile neurological cutaneous articular syndrome    familial mediterranean fever    wells syndrome    familial cold autoinflammatory syndrome
    muckle-wells syndrome    myocardial infarction    typhoid fever    huntington's disease
    glanders    pancreatic diseases    transient cerebral ischemia    galactosemia
    acute pancreatitis    acquired immunodeficiency syndrome    urticaria    febrile seizures


    CASP1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/94 Novoseek inferred disease relationships for CASP1 gene (see all 94)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    muckle-wells syndrome 79 1 16081838 (1)
    cold hypersensitivity 69.5 1 16081838 (1)
    inflammation 59.4 50 18828051 (3), 10931347 (3), 7780029 (1), 11736994 (1) (see all 41)
    cowpox 59 8 8034697 (2), 16465268 (1), 8972182 (1), 9829999 (1) (see all 5)
    familial mediterranean fever 57.8 4 17964261 (1), 16785446 (1), 19784369 (1), 18577712 (1)
    necrosis 54.1 28 17374996 (3), 12934070 (2), 19587006 (2), 19596994 (1) (see all 20)
    cinca syndrome 52.6 2 15476236 (1), 16081838 (1)
    neurodegeneration 36.6 5 10374748 (1), 10203693 (1), 10666665 (1), 9118318 (1) (see all 5)
    salmonella infections 36.4 3 15528373 (1), 20160900 (1), 18667412 (1)
    tumors 34.6 41 11043837 (2), 9377572 (2), 9661876 (2), 12794166 (1) (see all 28)

    Genetic Association Database (GAD): CASP1
    Human Genome Epidemiology (HuGE) Navigator: CASP1 (27 documents)
    Tumor Gene Database (TGDB): CASP1

    Export disorders for CASP1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CASP1 gene, integrated from 9 sources (see all 1007):
    (articles sorted by number of sources associating them with CASP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of the interleukin-1 beta converting enzyme. (PubMed id 1373520)1, 2, 3 Cerretti D.P.... Black R.A. (1992)
    2. Cloning and expression of four novel isoforms of human interleukin-1 beta converting enzyme with different apoptotic activities. (PubMed id 7876192)1, 2, 9 Alnemri E.S.... Litwack G. (1995)
    3. Caspase-1 genetic variation is not associated with Al zheimer's disease risk. (PubMed id 20184726)1, 4, 9 VA!zquez-Higuera J.L....Combarros O. (2010)
    4. Haplotypes of the caspase-1 gene, plasma caspase-1 levels, and cardiovascular risk. (PubMed id 16778130)1, 4, 9 Blankenberg S....Tiret L. (2006)
    5. Crystal structures of a ligand-free and malonate-bound human caspase- 1: implications for the mechanism of substrate binding. (PubMed id 15296730)1, 2, 9 Romanowski M.J.... McDowell R.S. (2004)
    6. NALP3 forms an IL-1beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder. (PubMed id 15030775)1, 2, 9 Agostini L....Tschopp J. (2004)
    7. A combinatorial approach for determining protease specificities: application to interleukin-1beta converting enzyme (ICE). (PubMed id 9190289)1, 2, 9 Rano T.A.... Thornberry N.A. (1997)
    8. Crystal structure of the cysteine protease interleukin-1 beta- converting enzyme: a (p20/p10)2 homodimer. (PubMed id 8044845)1, 2, 9 Walker N.P.C....Wong W.W. (1994)
    9. A novel heterodimeric cysteine protease is required for interleukin-1 beta processing in monocytes. (PubMed id 1574116)1, 2, 9 Thornberry N.A.... Tocci M.J. (1992)
    10. Germline variation in apoptosis pathway genes and ris k of non-Hodgkin's lymphoma. (PubMed id 20855536)1, 4 Kelly J.L....Cerhan J.R. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 834 HGNC: 1499 AceView: CASP1andCOP Ensembl:ENSG00000137752 euGenes: HUgn834
    ECgene: CASP1 Kegg: 834 H-InvDB: CASP1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CASP1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CASP1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CASP1 gene:
    Search GeneIP for patents involving CASP1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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