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Aliases for CASP1 Gene

Aliases for CASP1 Gene

  • Caspase 1, Apoptosis-Related Cysteine Peptidase 2 3
  • IL1BC 3 4 6
  • Caspase 1, Apoptosis-Related Cysteine Peptidase (Interleukin 1, Beta, Convertase) 2 3
  • IL-1 Beta-Converting Enzyme 3 4
  • EC 3.4.22.36 4 63
  • Caspase-1 2 3
  • P45 3 4
  • ICE 3 4
  • Caspase 1, Apoptosis-Related Cysteine Protease (Interleukin 1, Beta, Convertase) 2
  • Interleukin-1 Beta-Converting Enzyme 4
  • Interleukin 1-B Converting Enzyme 3
  • Interleukin 1, Beta, Convertase 3
  • Interleukin-1 Beta Convertase 4
  • CASP1 Nirs Variant 1 3
  • IL1B-Convertase 3
  • Interleukin 1 2
  • Convertase 2
  • EC 3.4.22 63
  • CASP-1 4
  • IL-1BC 4
  • IL1BCE 4
  • Beta 2

External Ids for CASP1 Gene

Previous HGNC Symbols for CASP1 Gene

  • IL1BC

Previous GeneCards Identifiers for CASP1 Gene

  • GC11M107089
  • GC11M106252
  • GC11M104930
  • GC11M104433
  • GC11M104401
  • GC11M104897
  • GC11M104898

Summaries for CASP1 Gene

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 cowpox. Among its related pathways are PAK Pathway and Apoptotic Pathways in Synovial Fibroblasts. 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 CASP2.

UniProtKB/Swiss-Prot for CASP1 Gene

  • 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.

Tocris 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 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CASP1 Gene

Genomics for CASP1 Gene

Regulatory Elements for CASP1 Gene

Genomic Location for CASP1 Gene

Start:
105,025,443 bp from pter
End:
105,035,250 bp from pter
Size:
9,808 bases
Orientation:
Minus strand

Genomic View for CASP1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CASP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CASP1 Gene

Proteins for CASP1 Gene

  • Protein details for CASP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P29466-CASP1_HUMAN
    Recommended name:
    Caspase-1
    Protein Accession:
    P29466
    Secondary Accessions:
    • B5MDZ1
    • Q53EY6
    • Q6DMQ1
    • Q6GSS3
    • Q6PI75
    • Q9UCN3

    Protein attributes for CASP1 Gene

    Size:
    404 amino acids
    Molecular mass:
    45159 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=AAT72297.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAT72297.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CASP1 Gene

    Alternative splice isoforms for CASP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CASP1 Gene

Proteomics data for CASP1 Gene at MOPED

Selected DME Specific Peptides for CASP1 Gene

Post-translational modifications for CASP1 Gene

  • The two subunits are derived from the precursor sequence by an autocatalytic mechanism
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for CASP1 (CASP1)

Protein Products

  • R&D Systems Peptides for CASP1 (Caspase-1)

Assay Products

  • Enzo Life Sciences assays for CASP1
  • antibodies-online kits for CASP1

Domains for CASP1 Gene

Gene Families for CASP1 Gene

HGNC:
IUPHAR :

Suggested Antigen Peptide Sequences for CASP1 Gene

Graphical View of Domain Structure for InterPro Entry

P29466

UniProtKB/Swiss-Prot:

CASP1_HUMAN :
  • P29466
Domain:
  • Contains 1 CARD domain.
Family:
  • Belongs to the peptidase C14A family.
genes like me logo Genes that share domains with CASP1: view

Function for CASP1 Gene

Molecular function for CASP1 Gene

GENATLAS Biochemistry: 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
UniProtKB/Swiss-Prot CatalyticActivity: Strict requirement for an Asp residue at position P1 and has a preferred cleavage sequence of Tyr-Val-Ala-Asp- -
UniProtKB/Swiss-Prot EnzymeRegulation: Specifically inhibited by the cowpox virus Crma protein
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for CASP1 Gene

Gene Ontology (GO) - Molecular Function for CASP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004175 endopeptidase activity IDA 24548080
GO:0004197 cysteine-type endopeptidase activity TAS --
GO:0005515 protein binding IPI 11374873
GO:0008233 peptidase activity --
GO:0008234 cysteine-type peptidase activity --
genes like me logo Genes that share ontologies with CASP1: view
genes like me logo Genes that share phenotypes with CASP1: view

Animal Models for CASP1 Gene

MGI Knock Outs for CASP1:

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CASP1

In Situ Assay Products

Flow Cytometry Products

No data available for miRNA , Transcription Factor Targeting and HOMER Transcription for CASP1 Gene

Localization for CASP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CASP1 Gene

Cytoplasm.

Gene Ontology (GO) - Cellular Components for CASP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005737 cytoplasm IBA --
GO:0005829 cytosol TAS --
GO:0072557 IPAF inflammasome complex ISS --
GO:0072558 NLRP1 inflammasome complex IDA 12191486
genes like me logo Genes that share ontologies with CASP1: view

No data available for Subcellular locations from COMPARTMENTS for CASP1 Gene

Pathways for CASP1 Gene

genes like me logo Genes that share pathways with CASP1: view

PCR Array Products

Gene Ontology (GO) - Biological Process for CASP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IEA --
GO:0006508 proteolysis IDA 12888622
GO:0006915 apoptotic process TAS 7876192
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process TAS 10799503
GO:0007165 signal transduction TAS 1373520
genes like me logo Genes that share ontologies with CASP1: view

Compounds for CASP1 Gene

Compound Products

(5) Tocris Compounds for CASP1 Gene

Compound Action Cas Number
Ac-LEHD-AFC Fluorogenic caspase substrate [210345-03-2]
Cisplatin Potent pro-apoptotic anticancer agent; activates caspase-3 [15663-27-1]
Z-DQMD-FMK Caspase-3 inhibitor
Z-VAD-FMK Cell-permeable, irreversible caspase inhibitor [187389-52-2]
Z-VDVAD-FMK Irreversible caspase-2 inhibitor

(12) ApexBio Compounds for CASP1 Gene

Compound Action Cas Number
Apoptosis Inhibitor Cell-permeable caspase-3 inhibitor [54135-60-3]
Caspase-3/7 Inhibitor I Cell-permeable and irreversible inhibitor of caspase-3 and -7 [220509-74-0]
Cisplatin Chemotherapy agent, induces apoptosis [15663-27-1]
PAC-1 Procaspase-activating compound, activates procaspase-3 and converts it to caspase-3 [315183-21-2]
Q-VD-Oph Cell-permeable, irreversible pan-caspase inhibitor [1135695-98-5]
VX-765 Novel Caspase-1 inhibitor [273404-37-8]
Z-DEVD-FMK Cell-permeable, and irreversible caspase-3 inhibitor [210344-95-9]
Z-DQMD-FMK Cell-permeable caspase-3 inhibitor
Z-FA-FMK An inhibitor of cysteine proteases, such as cathepsin B.
Z-VAD-FMK Cell-permeable, irreversible pan-caspase inhibitor [187389-52-2]
Z-VDVAD-FMK Cell-permeable and irreversible caspase-2 inhibitor
Z-VEID-FMK Cell-permeable and irreversible caspase-6 inhibitor

(1) IUPHAR Ligand for CASP1 Gene

Ligand Type Action Affinity Pubmed IDs
Z-YVAD-FMK Inhibitor Inhibition

(124) Novoseek inferred chemical compound relationships for CASP1 Gene

Compound -log(P) Hits PubMed IDs
acetyl-tyr-val-ala-asp-cho 78 3
pralnacasan 75.7 5
cysteine 74.3 105
z-vad-fmk 73.1 4
anakinra 66.6 4
genes like me logo Genes that share compounds with CASP1: view

Transcripts for CASP1 Gene

Unigene Clusters for CASP1 Gene

Caspase 1, apoptosis-related cysteine peptidase:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CASP1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CASP1 Gene

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:
SP6:
SP7: - - - - - - - - - - - - - - - - - - - - - - - - -
SP8:
SP9: -
SP10: - -
SP11:
SP12: - -
SP13: - - - -
SP14: -
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:

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: - -
SP6: - -
SP7: - - - -
SP8:
SP9:
SP10:
SP11: - - -
SP12:
SP13:
SP14:
SP15: - -
SP16: - - - - - - - - - - - - - - - - -
SP17: -
SP18:
SP19: - - - -
SP20: -
SP21: - - -

Relevant External Links for CASP1 Gene

GeneLoc Exon Structure for
CASP1
ECgene alternative splicing isoforms for
CASP1

Expression for CASP1 Gene

mRNA expression in normal human tissues for CASP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CASP1 Gene

This gene is overexpressed in Whole Blood (16.0) and Spleen (4.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CASP1 Gene

SOURCE GeneReport for Unigene cluster for CASP1 Gene Hs.2490

mRNA Expression by UniProt/SwissProt for CASP1 Gene

P29466-CASP1_HUMAN
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.
genes like me logo Genes that share expressions with CASP1: view

In Situ Assay Products

Orthologs for CASP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CASP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CASP1 36
  • 98 (a)
OneToOne
LOC101058924 35
  • 98.86 (n)
  • 98.29 (a)
cow
(Bos Taurus)
Mammalia -- 36
  • 16 (a)
ManyToMany
CASP1 35
  • 79.9 (n)
  • 70.72 (a)
dog
(Canis familiaris)
Mammalia -- 36
  • 17 (a)
ManyToMany
CASP4 35
  • 68.32 (n)
  • 57.43 (a)
mouse
(Mus musculus)
Mammalia Casp1 35
  • 72.8 (n)
  • 62.44 (a)
Casp1 16
Casp1 36
  • 62 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 52 (a)
OneToMany
-- 36
  • 54 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 50 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Casp1 35
  • 71.25 (n)
  • 63.25 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 46 (a)
OneToMany
CASP1 35
  • 55.21 (n)
  • 45.31 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 46 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia casp1-A 35
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100491605 35
  • 54.12 (n)
  • 46.51 (a)
Str.13436 35
zebrafish
(Danio rerio)
Actinopterygii zgc:171731 35
  • 55.18 (n)
  • 50.21 (a)
zgc:171731 36
  • 30 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Dredd 36
  • 12 (a)
ManyToMany
Nc 36
  • 16 (a)
ManyToMany
Species with no ortholog for CASP1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CASP1 Gene

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

Paralogs for CASP1 Gene

Selected SIMAP similar genes for CASP1 Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for CASP1 Gene

genes like me logo Genes that share paralogs with CASP1: view

Variants for CASP1 Gene

Sequence variations from dbSNP and Humsavar for CASP1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs473549 -- 105,030,280(-) TAACT(A/G)AATAA intron-variant
rs476889 -- 105,026,166(-) CATTT(G/T)AGTCA intron-variant, utr-variant-3-prime
rs481736 -- 105,035,983(-) AGTTC(A/G)ACATT upstream-variant-2KB
rs483345 -- 105,025,499(-) GTCCT(C/T)ATTTT downstream-variant-500B
rs484626 -- 105,028,065(+) TCAAA(C/G)GATAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CASP1 Gene

Variant ID Type Subtype PubMed ID
esv2750978 CNV Gain 17911159
nsv898355 CNV Gain 21882294
nsv468862 CNV Gain 19166990
dgv434e1 CNV Complex 17122850
esv1015 CNV CNV 17122850
nsv517089 CNV Loss 19592680
nsv470 CNV Loss 18451855
dgv435e1 CNV Complex 17122850
essv12898 CNV CNV 17122850
nsv8870 CNV Loss 18304495
esv2663609 CNV Deletion 23128226
esv23696 CNV Loss 19812545
dgv436e1 CNV Complex 17122850
esv2421755 CNV Deletion 20811451
nsv442626 CNV CNV 18776908
nsv818862 CNV Loss 17921354
nsv514588 CNV Loss 21397061
esv2745018 CNV Deletion 23290073
dgv437e1 CNV Complex 17122850
nsv818863 CNV Gain 17921354
nsv8871 CNV Gain 18304495
esv33277 CNV Gain 17666407
nsv442241 CNV CNV 18776908
nsv524985 CNV Loss 19592680

Relevant External Links for CASP1 Gene

HapMap Linkage Disequilibrium report
CASP1
Human Gene Mutation Database (HGMD)
CASP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CASP1 Gene

Disorders for CASP1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (11) Diseases for CASP1 Gene including...

Search for CASP1 Gene in MalaCards »

(94) Novoseek inferred disease relationships for CASP1 Gene

Disease -log(P) Hits PubMed IDs
muckle-wells syndrome 79 1
cold hypersensitivity 69.5 1
inflammation 59.4 45
cowpox 59 6
familial mediterranean fever 57.8 4

Relevant External Links for CASP1

Genetic Association Database (GAD)
CASP1
Human Genome Epidemiology (HuGE) Navigator
CASP1
Tumor Gene Database (TGDB):
CASP1
genes like me logo Genes that share disorders with CASP1: view

No data available for UniProtKB/Swiss-Prot for CASP1 Gene

Publications for CASP1 Gene

  1. Crystal structure of the cysteine protease interleukin-1 beta- converting enzyme: a (p20/p10)2 homodimer. (PMID: 8044845) Walker N.P.C. … Wong W.W. (Cell 1994) 3 4 23
  2. A novel heterodimeric cysteine protease is required for interleukin-1 beta processing in monocytes. (PMID: 1574116) Thornberry N.A. … Tocci M.J. (Nature 1992) 3 4 23
  3. A combinatorial approach for determining protease specificities: application to interleukin-1beta converting enzyme (ICE). (PMID: 9190289) Rano T.A. … Thornberry N.A. (Chem. Biol. 1997) 3 4 23
  4. Cloning and expression of four novel isoforms of human interleukin-1 beta converting enzyme with different apoptotic activities. (PMID: 7876192) Alnemri E.S. … Litwack G. (J. Biol. Chem. 1995) 3 4 23
  5. The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production. (PMID: 16785446) Chae J.J. … Kastner D.L. (Proc. Natl. Acad. Sci. U.S.A. 2006) 3 4 23

Products for CASP1 Gene

  • Addgene plasmids for CASP1

Sources for CASP1 Gene

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