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Aliases for CASP1 Gene

Aliases for CASP1 Gene

  • Caspase 1 2 3 5
  • 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
  • IL1BC 3 4
  • P45 3 4
  • ICE 3 4
  • Caspase 1, Apoptosis-Related Cysteine Protease (Interleukin 1, Beta, Convertase) 2
  • Caspase 1, Apoptosis-Related Cysteine Peptidase 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
  • Caspase-1 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) is a Protein Coding gene. Diseases associated with CASP1 include Cowpox and Legionellosis. Among its related pathways are Gene Expression and p53 Signaling. GO annotations related to this gene include peptidase activity and cysteine-type peptidase activity. An important paralog of this gene is CASP5.

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 (cysteinyl aspartate proteases) are involved in the signaling pathways of apoptosis, necrosis and inflammation. These enzymes can be divided into initiators and effectors. The initiator isoforms are activated by, and interact with, upstream adaptor molecules.

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

Enhancers for CASP1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CASP1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CASP1 Gene

Chromosome:
11
Start:
105,025,443 bp from pter
End:
105,036,662 bp from pter
Size:
11,220 bases
Orientation:
Minus strand

Genomic View for CASP1 Gene

Genes around CASP1 on UCSC Golden Path with GeneCards custom track

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

Assay Products

  • Enzo Life Sciences assays for CASP1
  • Cloud-Clone Corp Assay Kits for CASP1

Domains & Families for CASP1 Gene

Gene Families for CASP1 Gene

Suggested Antigen Peptide Sequences for CASP1 Gene

Graphical View of Domain Structure for InterPro Entry

P29466

UniProtKB/Swiss-Prot:

CASP1_HUMAN :
  • Contains 1 CARD domain.
  • Belongs to the peptidase C14A family.
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

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

Animal Models for CASP1 Gene

MGI Knock Outs for CASP1:

Flow Cytometry Products

No data available for Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CASP1 Gene

Localization for CASP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CASP1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CASP1 Gene COMPARTMENTS Subcellular localization image for CASP1 gene
Compartment Confidence
cytosol 5
mitochondrion 4
nucleus 4
extracellular 3
lysosome 2
plasma membrane 2
vacuole 2
cytoskeleton 1
endoplasmic reticulum 1
endosome 1

No data available for Gene Ontology (GO) - Cellular Components for CASP1 Gene

Pathways & Interactions for CASP1 Gene

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

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 IEA,IDA 12888622
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process TAS 10799503
GO:0007165 signal transduction TAS 1373520
GO:0009617 response to bacterium IEA --
genes like me logo Genes that share ontologies with CASP1: view

No data available for SIGNOR curated interactions for CASP1 Gene

Drugs & Compounds for CASP1 Gene

(72) Drugs for CASP1 Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Minocycline Approved, Investigational Pharma Target, negative modulator 210
Cisplatin Approved Pharma Inhibits DNA synthesis,chemotherapy drug, Platinum 2569
1-METHYL-3-TRIFLUOROMETHYL-1H-THIENO[2,3-C]PYRAZOLE-5-CARBOXYLIC ACID (2-MERCAPTO-ETHYL)-AMIDE Experimental Pharma Target 0
3-[2-(2-BENZYLOXYCARBONYLAMINO-3-METHYL-BUTYRYLAMINO)-PROPIONYLAMINO]-4-OXO-PENTANOIC ACID Experimental Pharma Target 0
3-{6-[(8-HYDROXY-QUINOLINE-2-CARBONYL)-AMINO]-2-THIOPHEN-2-YL-HEXANOYLAMINO}-4-OXO-BUTYRI ACID Experimental Pharma Target 0

(69) Additional Compounds for CASP1 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Calpeptin
117591-20-5
MG 132
133407-82-6
N-Acetyl-L-leucyl-L-leucyl-L-methional
136632-32-1
PD 150606
179528-45-1

(5) Tocris Compounds for CASP1 Gene

Compound Action Cas Number
Calpeptin Calpain and cathepsin L inhibitor 117591-20-5
MDL 28170 Potent, selective calpain and cathepsin B inhibitor 88191-84-8
MG 132 Proteasome and calpain inhibitor. Inhibits NF-kappaB activation 133407-82-6
N-Acetyl-L-leucyl-L-leucyl-L-methional Cathepsin inhibitor 136632-32-1
PD 150606 Cell permeable calpain inhibitor 179528-45-1

(8) ApexBio Compounds for CASP1 Gene

Compound Action Cas Number
Apoptosis Activator 2 Indoledione caspase activator, cell-permeable 79183-19-0
Boc-D-FMK Pan-caspase inhibitor 187389-53-3, 634911-80-1
Cisplatin Inhibits DNA synthesis,chemotherapy drug 15663-27-1
PAC-1 Procaspase-3 activator 315183-21-2
Q-VD-OPh hydrate Cell-permeable, irreversible pan-caspase inhibitor 1135695-98-5
Tasisulam 519055-62-0
VX-765 Caspase-1 inhibitor,potent and selective 273404-37-8
Z-VAD-FMK Cell-permeable, irreversible pan-caspase inhibitor 187389-52-2
genes like me logo Genes that share compounds with CASP1: view

Drug Products

Transcripts for CASP1 Gene

Unigene Clusters for CASP1 Gene

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

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 (x16.0) and Spleen (x4.5).

Protein differential expression in normal tissues from HIPED for CASP1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (22.0) and Spleen (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with CASP1: view

Protein tissue co-expression partners for CASP1 Gene

- Elite partner

Primer 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
cow
(Bos Taurus)
Mammalia CASP1 35
  • 79.9 (n)
  • 70.72 (a)
-- 36
  • 16 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia CASP4 35
  • 68.32 (n)
  • 57.43 (a)
-- 36
  • 17 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Casp1 35
  • 72.8 (n)
  • 62.44 (a)
Casp1 16
Casp1 36
  • 62 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LOC101058924 35
  • 98.86 (n)
  • 98.29 (a)
CASP1 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Casp1 35
  • 71.25 (n)
  • 63.25 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 52 (a)
OneToMany
-- 36
  • 54 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 50 (a)
OneToMany
chicken
(Gallus gallus)
Aves CASP1 35
  • 55.21 (n)
  • 45.31 (a)
-- 36
  • 46 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 46 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100491605 35
  • 54.12 (n)
  • 46.51 (a)
Str.13436 35
African clawed frog
(Xenopus laevis)
Amphibia casp1-A 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

Paralogs for CASP1 Gene

(9) 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
rs1042743 - 105,034,438(-) TATCC(A/G)TTCCA intron-variant, reference, missense
rs526118 -- 105,037,689(-) gacat(A/C)caagc upstream-variant-2KB
rs526167 -- 105,032,042(-) GTTAC(A/G)TTAAT intron-variant
rs528076 -- 105,037,461(-) ccctc(A/G)gctta upstream-variant-2KB
rs530537 -- 105,027,786(-) TTGCA(A/G)AGATA 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

Variation tolerance for CASP1 Gene

Residual Variation Intolerance Score: 71.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.64; 31.50% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CASP1 Gene

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

(28) MalaCards diseases for CASP1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cowpox
  • yaba
legionellosis
  • pontiac fever
paratyphoid fever
  • paratyphoid
muckle-wells syndrome
  • mws
familial cold-induced inflammatory syndrome 1
  • cold-induced autoinflammatory syndrome, familial
- elite association - COSMIC cancer census association via MalaCards
Search CASP1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CASP1

Genetic Association Database (GAD)
CASP1
Human Genome Epidemiology (HuGE) Navigator
CASP1
Tumor Gene Database (TGDB):
CASP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CASP1
genes like me logo Genes that share disorders with CASP1: view

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

Publications for CASP1 Gene

  1. Molecular cloning of the interleukin-1 beta converting enzyme. (PMID: 1373520) Cerretti D.P. … Black R.A. (Science 1992) 2 3 4 67
  2. Inhibition of caspase-1/interleukin-1beta signaling prevents degeneration of retinal capillaries in diabetes and galactosemia. (PMID: 17192486) Vincent J.A. … Mohr S. (Diabetes 2007) 23 25 26
  3. Minocycline reduces traumatic brain injury-mediated caspase-1 activation, tissue damage, and neurological dysfunction. (PMID: 11383749) Sanchez Mejia R.O. … Friedlander R.M. (Neurosurgery 2001) 23 25 26
  4. Caspase-1 recognizes extended cleavage sites in its natural substrates. (PMID: 20060974) Shen J. … Yang X.F. (Atherosclerosis 2010) 3 23
  5. Noncovalent tripeptidyl benzyl- and cyclohexyl-amine inhibitors of the cysteine protease caspase-1. (PMID: 20170165) LAPser R. … Fairlie D.P. (J. Med. Chem. 2010) 3 23

Products for CASP1 Gene

Sources for CASP1 Gene

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