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CASP1 Gene

protein-coding   GIFtS: 72
GCID: GC11M104898

Caspase 1, Apoptosis-Related Cysteine Peptidase

(Previous names: caspase 1, apoptosis-related cysteine protease (interleukin...)
(Previous symbol: IL1BC)
  See CASP1-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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 shigellosis, and septic shock. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000011.9  NT_033899.9  NC_018922.2  
Regulatory elements:
   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 Chromatin IP Primers for CASP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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. Both the p10 and p20
subunits interact with MEFV. Interacts with CARD17/INCA and CARD18
Sequence caution: Sequence=AAT72297.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAT72297.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact;
Selected 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: 

  • The two subunits are derived from the precursor sequence by an autocatalytic mechanism1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for CASP1 (P29466) (see all 7)
     NGLLDEL  IIQACRG  SDSTFLV  DKPKVII 


    See CASP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

    CASP1 Human Recombinant Protein Products:

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    Novus Biologicals CASP1 Proteins
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CASP1

     
    Search eBioscience for Proteins for CASP1 

    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
    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

    CASP1 Assay Products:

    EMD Millipore Kits and Assays for the Analysis of CASP1
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    R&D Systems ELISAs for CASP1 (Caspase-1)         (see all)
    GenScript CASP1-Activity-based Protease?src=genec Assay for Compound Screening
    Enzo Life Sciences assays for CASP1
    Cloud-Clone Corp. ELISAs for CASP1
    Cloud-Clone Corp. CLIAs for CASP1
    Search eBioscience for ELISAs for CASP1 


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

    IUPHAR Guide to PHARMACOLOGY protein family classification: Caspase 1
    Caspases

    Selected InterPro protein domains (see all 8):
     IPR001309 Pept_C14_ICE_p20
     IPR011029 DEATH-like_dom
     IPR017350 Caspase_IL-1_beta
     IPR002138 Pept_C14_p10
     IPR015917 Pept_C14A_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


    Find genes that share domains with CASP1           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    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
         
    Find genes that share ontologies with CASP1           About GenesLikeMe


    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 

    Find genes that share phenotypes with CASP1           About GenesLikeMe

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

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CASP1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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
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    Predesigned siRNA for gene silencing in human, mouse, rat CASP1

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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 5): CASP1 (NM_033292)
    Sino Biological Human cDNA Clone for CASP1
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CASP1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CASP1_HUMAN, P29466: Cytoplasm

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005622intracellular ----
    GO:0005737cytoplasm IBA--
    GO:0005829cytosol TAS--
    GO:0072557IPAF inflammasome complex ISS--

    Find genes that share ontologies with CASP1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for CASP1 About   (see all 36)  
    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 pathways0.68
    The IPAF inflammasome0.00
    NOD1/2 Signaling Pathway0.68
    The AIM2 inflammasome0.00
    NOD-like receptor signaling pathway0.37
    Inflammasomes0.00
    NOD pathway0.33
    2Amyotrophic lateral sclerosis (ALS)
    Amyotrophic lateral sclerosis (ALS)0.63
    Pathogenesis of ALS0.31
    Amyotrophic lateral sclerosis (ALS)0.63
    3Parkin-Ubiquitin Proteasomal System pathway
    Proteolysis Role of Parkin in the Ubiquitin Proteasomal Pathway0.89
    Parkin-Ubiquitin Proteasomal System pathway0.89
    4p53 Signaling
    p53 Signaling0.38
    p53 Pathway0.38
    5TWEAK Pathway
    TNF Signaling0.55
    Fas Signaling0.35
    GITR Pathway0.46


    Find genes that share SuperPaths with CASP1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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

    Selected Downloadable PowerPoint Slides of GeneGlobe 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

    Selected BioSystems Pathways for CASP1 (see all 10)
        MAPK signaling pathway
    Apoptosis
    NOD pathway
    Parkin-Ubiquitin Proteasomal System pathway
    Amyotrophic lateral sclerosis (ALS)

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

    5 Reactome Pathways for CASP1
        The AIM2 inflammasome
    Interleukin-1 processing
    The NLRP3 inflammasome
    The IPAF inflammasome
    NOD1/2 Signaling Pathway


    Selected 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

        Pathway & Disease-focused RT2 Profiler 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

    Interactions:

        GeneGlobe Interaction Network for CASP1

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

    Selected Interacting proteins for CASP1 (P294661, 2, 3 ENSP000004100764) via UniProtKB, MINT, STRING, and/or I2D (see all 78)
    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): Selected biological process terms (see all 24):    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

    Find genes that share ontologies with CASP1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Enzo Life Sciences drugs & compounds for CASP1
    Selected ApexBio Compounds for CASP1 (see all 12)     About this table
    CompoundAction CAS #
    Apoptosis InhibitorCell-permeable caspase-3 inhibitor[54135-60-3]
    Caspase-3/7 Inhibitor ICell-permeable and irreversible inhibitor of caspase-3 and -7[220509-74-0]
    CisplatinChemotherapy agent, induces apoptosis[15663-27-1]
    PAC-1Procaspase-activating compound, activates procaspase-3 and converts it to caspase-3[315183-21-2]
    Q-VD-OphCell-permeable, irreversible pan-caspase inhibitor[1135695-98-5]
    VX-765 Novel Caspase-1 inhibitor[273404-37-8]
    Z-DEVD-FMKCell-permeable, and irreversible caspase-3 inhibitor[210344-95-9]
    Z-DQMD-FMKCell-permeable caspase-3 inhibitor--
    Z-FA-FMKEffector caspases 2, 3, 5, and 7--
    Z-VAD-FMKCell-permeable, irreversible pan-caspase inhibitor[187389-52-2]

    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

    Selected 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)



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    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CASP1 gene (7 alternative transcripts): 
    NM_001223.4  NM_001257118.2  NM_001257119.2  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
    Selected 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)
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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 

    Selected AceView cDNA sequences (see all 135):

    BQ673033 AU076811 AI493806 X65019 U13697 BI818813 AU134631 BG215796 
    CR592117 BI819700 AU098419 BM920134 AI081712 AK125640 BC070196 BG390044 
    BC062327 BC041689 BM552543 AW239393 BX505922 BG679651 BV202709 NM_001223 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CASP1 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 9) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
     
     Placenta (Extraembryonic Tissues)    fully expand to see all 2 entries
             Placenta-derived mesenchymal stem cells (family)
     
     Mesenchymal Stem Cells (Uncategorized)    fully expand to see all 2 entries
             Placenta-derived mesenchymal stem cells (family)
     
     Peripheral Nervous System (Nervous System)
             Schwann Precursor Cells Peripheral Nerve Domain
     
     NULL (Uncategorized)
             CD31, CD144 positive cells
    CASP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CASP1 Protein Expression

    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

        Pathway & Disease-focused RT2 Profiler 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)
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    This gene was present in the common ancestor of animals.

    Orthologs for CASP1 gene from Selected 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 55.21(n)
    45.31(a)
      395764  XM_003642384.2  XP_003642432.2 
    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 zgc:1717311 zgc:171731 55.18(n)
    50.21(a)
      563034  NM_001109712.1  NP_001103182.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Nc6
    Dredd6
    Death related ced-3/Nedd2-like protein
    16(a)
    12(a)
    many ↔ many
    many ↔ many
    3L(9961579-9964102)
    X(527553-529760)


    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)
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    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

    Find genes that share paralogs with CASP1           About GenesLikeMe


    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CASP1 (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) Selected 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
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CASP1
    DNA2.0 Custom Variant and Variant Library Synthesis for CASP1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 147678    OMIM disorders: --

    14 diseases for CASP1:    
    About MalaCards
    shigellosis    septic shock    paratyphoid fever    cowpox
    wells syndrome    muckle-wells syndrome    pneumococcal meningitis    familial mediterranean fever
    typhoid fever    familial cold autoinflammatory syndrome    huntington's disease    myocardial infarction
    myelodysplastic syndromes    amyotrophic lateral sclerosis


    Find genes that share disorders with CASP1           About GenesLikeMe

    Selected 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)
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    PubMed articles for CASP1 gene, integrated from 10 sources (see all 1015):
    (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. (Science 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. (J. Biol. Chem. 1995)
    3. Caspase-1 genetic variation is not associated with Alzheimer's disease risk. (PubMed id 20184726)1, 4, 9 VA!zquez-Higuera J.L....Combarros O. (BMC Med. Genet. 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. (Circ. Res. 2006)
    5. The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production. (PubMed id 16785446)1, 2, 9 Chae J.J....Kastner D.L. (Proc. Natl. Acad. Sci. U.S.A. 2006)
    6. 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. (Structure 2004)
    7. 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. (Immunity 2004)
    8. 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. (Chem. Biol. 1997)
    9. 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. (Cell 1994)
    10. 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. (Nature 1992)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 834 HGNC: 1499 AceView: CASP1andCOP Ensembl:ENSG00000137752 euGenes: HUgn834
    ECgene: CASP1 Kegg: 834 H-InvDB: CASP1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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