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Aliases for CASP1 Gene

Aliases for CASP1 Gene

  • Caspase 1 2 3 5
  • Caspase 1, Apoptosis-Related Cysteine Peptidase 2 3
  • Interleukin 1, Beta, Convertase 2 3
  • IL-1 Beta-Converting Enzyme 3 4
  • EC 3.4.22.36 4 58
  • Caspase-1 2 3
  • IL1BC 3 4
  • P45 3 4
  • ICE 3 4
  • Caspase 1, Apoptosis-Related Cysteine Peptidase (Interleukin 1, Beta, Convertase) 2
  • 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 4
  • CASP1 Nirs Variant 1 3
  • IL1B-Convertase 3
  • EC 3.4.22 58
  • CASP-1 4
  • IL-1BC 4
  • IL1BCE 4

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 Shigellosis. Among its related pathways are TNFR1 Pathway and Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways. GO annotations related to this gene include peptidase activity and cysteine-type peptidase activity. An important paralog of this gene is CASP4.

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. Upon inflammasome activation, during DNA virus infection but not RNA virus challenge, controls antiviral immunity through the cleavage of MB21D1/cGAS, rendering it inactive (PubMed:28314590).

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

Additional gene information for CASP1 Gene

No data available for CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11H105000 0.6 ENCODE 12.2 +35.7 35664 0 CTCF TRIM22 MAX RAD21 TARDBP ZNF143 SMC3 MYC CASP5 CASP1 ENSG00000284715
GH11H105243 1.3 FANTOM5 Ensembl ENCODE 4.2 -208.0 -208037 2 JUN MAX CEBPB EP300 BRCA1 JUND MAFF POLR2A STAT3 FOS CARD17 GRIA4 CASP1 CARD16 CASP4 CASP5 ENSG00000255336 GC11P105198
GH11H105200 0.9 ENCODE 4.5 -165.7 -165704 3 ELF3 FOXA2 ATF1 RAD21 DNMT3B RARA CREM THAP11 HMG20B PPARG CARD17 CASP1 CASP4 GC11P105198 ENSG00000255336
GH11H105032 1.4 FANTOM5 ENCODE dbSUPER 0.7 +2.3 2340 3 TBP TAF1 MAX CEBPG BATF RAD21 YY1 POLR2A IKZF2 JUNB CARD17 CASP4 CASP5 CARD16 CASP1P2 CASP1
GH11H105043 1.5 FANTOM5 ENCODE dbSUPER 0.4 -9.4 -9372 4 FOXA2 ATF1 MLX ARID4B DMAP1 BRCA1 YY1 FOS SP5 ZHX2 CASP5 CARD17 CARD16 CASP1 CASP1P2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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

Selected DME Specific Peptides for CASP1 Gene

P29466:
  • IIQACRG
  • DKPKVII
  • ENATVMDK
  • NGLLDEL
  • SDSTFLV
  • RTRLALIICN
  • EKDFIAFCSSTP

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)

Domains & Families for CASP1 Gene

Gene Families for CASP1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Enzymes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for CASP1 Gene

Graphical View of Domain Structure for InterPro Entry

P29466

UniProtKB/Swiss-Prot:

CASP1_HUMAN :
  • Belongs to the peptidase C14A family.
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. Upon inflammasome activation, during DNA virus infection but not RNA virus challenge, controls antiviral immunity through the cleavage of MB21D1/cGAS, rendering it inactive (PubMed:28314590).
UniProtKB/Swiss-Prot Induction:
Transcription and translation induced by M.tuberculosis and a number of different M.tuberculosis components; EsxA is the most potent activator tested (at protein level) (PubMed:20148899).

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,IDA --
GO:0005515 protein binding IPI 11374873
GO:0008233 peptidase activity IEA --
GO:0008234 cysteine-type peptidase activity IEA --
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

CRISPR Products

Clone Products

  • Addgene plasmids for CASP1
  • Applied Biological Materials Clones for CASP1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Phenotypes From GWAS Catalog , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CASP1 gene
Compartment Confidence
cytosol 5
mitochondrion 4
nucleus 4
extracellular 3
plasma membrane 2
endoplasmic reticulum 2
lysosome 2
cytoskeleton 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CASP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol TAS --
GO:0043234 protein complex IMP 11536016
genes like me logo Genes that share ontologies with CASP1: view

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 TAS,IDA 12888622
GO:0006915 apoptotic process TAS 7876192
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process IEA --
GO:0007165 signal transduction TAS 1373520
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

(83) 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 236
Cisplatin Approved Pharma Inhibits DNA synthesis,chemotherapy drug, Platinum, Potent pro-apoptotic anticancer agent; activates caspase-3 2823
1-METHYL-3-TRIFLUOROMETHYL-1H-THIENO[2,3-C]PYRAZOLE-5-CARBOXYLIC ACID (2-MERCAPTO-ETHYL)-AMIDE 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
Z-Val-Ala-Asp fluoromethyl ketone Experimental Pharma Target 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
MG 101
110044-82-1

(3) Tocris Compounds for CASP1 Gene

Compound Action Cas Number
MDL 28170 Potent, selective calpain and cathepsin B inhibitor 88191-84-8
MG 101 Calpain inhibitor; activates p53-dependent apoptosis 110044-82-1
PD 150606 Cell permeable calpain inhibitor 179528-45-1

(13) 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
Caspase Inhibitor Set I Caspase Inhibitors
Cisplatin Inhibits DNA synthesis,chemotherapy drug 15663-27-1
Emricasan 254750-02-2
PAC-1 Procaspase-3 activator 315183-21-2
Q-VD(OMe)-OPh Pan-caspase inhibitor
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-FA-FMK Cysteine proteases inhibitor
Z-VAD-FMK Cell-permeable, irreversible pan-caspase inhibitor 187389-52-2
Z-YVAD-FMK Caspase-1 inhibitor
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:

CRISPR Products

Clone Products

  • Addgene plasmids for CASP1
  • Applied Biological Materials Clones for CASP1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for CASP1 Gene



Protein tissue co-expression partners for CASP1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CASP1 Gene:

CASP1

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.

Evidence on tissue expression from TISSUES for CASP1 Gene

  • Blood(3.4)
  • Spleen(3.1)
  • Intestine(2.9)
  • Lung(2.9)
  • Lymph node(2.9)
  • Nervous system(2.8)
  • Skin(2.6)
  • Liver(2.4)
  • Bone marrow(2.3)
  • Heart(2.3)
  • Kidney(2.3)
  • Muscle(2.1)
  • Eye(2)
genes like me logo Genes that share expression patterns with CASP1: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CASP1 Gene

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 LOC101058924 33
  • 98.86 (n)
CASP1 34
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CASP1 33
  • 79.9 (n)
-- 34
  • 16 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Casp1 33 16 34
  • 72.8 (n)
rat
(Rattus norvegicus)
Mammalia Casp1 33
  • 71.25 (n)
dog
(Canis familiaris)
Mammalia CASP4 33
  • 68.32 (n)
-- 34
  • 17 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 54 (a)
OneToMany
-- 34
  • 52 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 50 (a)
OneToMany
chicken
(Gallus gallus)
Aves CASP1 33
  • 55.21 (n)
-- 34
  • 46 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 46 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100491605 33
  • 54.12 (n)
Str.13436 33
African clawed frog
(Xenopus laevis)
Amphibia casp1-A 33
zebrafish
(Danio rerio)
Actinopterygii zgc:171731 33 34
  • 55.18 (n)
fruit fly
(Drosophila melanogaster)
Insecta Nc 34
  • 16 (a)
ManyToMany
Dredd 34
  • 12 (a)
ManyToMany
Species where no ortholog for CASP1 was found in the sources mined by GeneCards:
  • 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
rs1000180195 -- 105,029,335(+) CCTCT(C/G)TTCAA intron-variant
rs1000430093 -- 105,037,454(+) CATGA(A/G)GTAAG upstream-variant-2KB
rs1000520699 -- 105,027,990(+) CAGAT(G/T)GATAA intron-variant
rs1000787732 -- 105,031,461(+) AAGCA(A/G)GAGAT intron-variant
rs1001155887 -- 105,033,540(+) GGCCA(G/T)CTCAG intron-variant

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

Variant ID Type Subtype PubMed ID
esv2750978 CNV gain 17911159
esv2759863 CNV gain+loss 17122850
nsv1038877 CNV gain 25217958
nsv1041081 CNV loss 25217958
nsv1046098 CNV loss 25217958
nsv1052674 CNV loss 25217958
nsv468862 CNV gain 19166990
nsv556218 CNV gain 21841781
nsv556219 CNV loss 21841781
nsv975223 CNV duplication 23825009

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CASP1

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

Disorders for CASP1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
cowpox
  • yaba
shigellosis
  • bacillary dysentery
chronic recurrent multifocal osteomyelitis
  • chronic multifocal osteomyelitis
autoinflammation with arthritis and dyskeratosis
  • aiadk
legionellosis
  • legionella infection
- 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. Caspase-1 genetic variation is not associated with Alzheimer's disease risk. (PMID: 20184726) Vázquez-Higuera JL … Combarros O (BMC medical genetics 2010) 3 22 45 60
  2. The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production. (PMID: 16785446) Chae JJ … Kastner DL (Proceedings of the National Academy of Sciences of the United States of America 2006) 3 4 22 60
  3. Haplotypes of the caspase-1 gene, plasma caspase-1 levels, and cardiovascular risk. (PMID: 16778130) Blankenberg S … AtheroGene Investigators (Circulation research 2006) 3 22 45 60
  4. Crystal structures of a ligand-free and malonate-bound human caspase-1: implications for the mechanism of substrate binding. (PMID: 15296730) Romanowski MJ … McDowell RS (Structure (London, England : 1993) 2004) 3 4 22 60
  5. A combinatorial approach for determining protease specificities: application to interleukin-1beta converting enzyme (ICE). (PMID: 9190289) Rano TA … Thornberry NA (Chemistry & biology 1997) 3 4 22 60

Products for CASP1 Gene

  • Addgene plasmids for CASP1

Sources for CASP1 Gene

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