Human Gene CASP1 (ENST00000533400.6_8) from GENCODE V47lift37
  Description: caspase 1, transcript variant 6 (from RefSeq NM_001257118.3)
Gencode Transcript: ENST00000533400.6_8
Gencode Gene: ENSG00000137752.25_15
Transcript (Including UTRs)
   Position: hg19 chr11:104,896,235-104,905,871 Size: 9,637 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg19 chr11:104,896,985-104,905,840 Size: 8,856 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:104,896,235-104,905,871)mRNA (may differ from genome)Protein (404 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CASP1_HUMAN
DESCRIPTION: RecName: Full=Caspase-1; Short=CASP-1; EC=3.4.22.36; AltName: Full=Interleukin-1 beta convertase; Short=IL-1BC; AltName: Full=Interleukin-1 beta-converting enzyme; Short=ICE; Short=IL-1 beta-converting enzyme; AltName: Full=p45; Contains: RecName: Full=Caspase-1 subunit p20; Contains: RecName: Full=Caspase-1 subunit p10; Flags: Precursor;
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.
SUBUNIT: Heterotetramer that consists of two anti-parallel arranged heterodimers, each one formed by a 20 kDa (p20) and a 10 kDa (p10) subunit. The p20 subunit can also form a heterodimer with the epsilon isoform which then has an inhibitory effect. May be a component of the inflammasome, a protein complex which also includes PYCARD, CARD8 and NALP2 and whose function would be the activation of proinflammatory caspases. Interacts with CARD17/INCA and CARD18.
INTERACTION: P09038:FGF2; NbExp=2; IntAct=EBI-516667, EBI-977447; P01583:IL1A; NbExp=7; IntAct=EBI-516667, EBI-1749782; Q9NPP4:NLRC4; NbExp=4; IntAct=EBI-516667, EBI-1222527;
SUBCELLULAR LOCATION: Cytoplasm.
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.
PTM: The two subunits are derived from the precursor sequence by an autocatalytic mechanism.
SIMILARITY: Belongs to the peptidase C14A family.
SIMILARITY: Contains 1 CARD domain.
SEQUENCE CAUTION: Sequence=AAT72297.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAT72297.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact;
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/CASP1ID145ch11q22.html";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CASP1
Diseases sorted by gene-association score: cowpox (41), shigellosis (28), chronic recurrent multifocal osteomyelitis (17), autoinflammation with arthritis and dyskeratosis (13), legionellosis (12), muckle-wells syndrome (12), familial cold-induced inflammatory syndrome 1 (11), paratyphoid fever (11), familial mediterranean fever, ar (10), familial cold autoinflammatory syndrome (10), cinca syndrome (10), chlamydia (8), anthrax disease (8), salmonellosis (8), chemical colitis (7), israeli tick typhus (7), burn scar (7), ulceroglandular tularemia (7), tinea favosa (6), typhoid fever (6), osteomyelitis (5), legionnaires' disease (5), tularemia (5), cutaneous anthrax (4), huntington disease (3), thrombotic thrombocytopenic purpura, acquired (3), lateral sclerosis (3), cardiomyopathy, familial hypertrophic (1), malaria (1), myocardial infarction (1), amyotrophic lateral sclerosis 1 (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 47.03 RPKM in Spleen
Total median expression: 345.95 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR 0.00310.000 Picture PostScript Text
3' UTR -167.20750-0.223 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001315 - CARD
IPR017350 - Caspase_IL-1_beta
IPR011029 - DEATH-like
IPR011600 - Pept_C14_cat
IPR001309 - Pept_C14_ICE_p20
IPR016129 - Pept_C14_ICE_p20_AS
IPR002138 - Pept_C14_p10
IPR002398 - Pept_C14_p45
IPR015917 - Pept_C14_p45_core

Pfam Domains:
PF00619 - Caspase recruitment domain
PF00656 - Caspase domain

SCOP Domains:
47986 - DEATH domain
52129 - Caspase-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1BMQ - X-ray MuPIT 1IBC - X-ray MuPIT 1ICE - X-ray 1RWK - X-ray MuPIT 1RWM - X-ray MuPIT 1RWN - X-ray MuPIT 1RWO - X-ray MuPIT 1RWP - X-ray MuPIT 1RWV - X-ray MuPIT 1RWW - X-ray MuPIT 1RWX - X-ray MuPIT 1SC1 - X-ray MuPIT 1SC3 - X-ray MuPIT 1SC4 - X-ray MuPIT 2FQQ - X-ray MuPIT 2H48 - X-ray MuPIT 2H4W - X-ray MuPIT 2H4Y - X-ray MuPIT 2H51 - X-ray MuPIT 2H54 - X-ray MuPIT 2HBQ - X-ray MuPIT 2HBR - X-ray MuPIT 2HBY - X-ray MuPIT 2HBZ - X-ray MuPIT 3D6F - X-ray MuPIT 3D6H - X-ray MuPIT 3D6M - X-ray MuPIT 3E4C - X-ray MuPIT 3NS7 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P29466
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004175 endopeptidase activity
GO:0004197 cysteine-type endopeptidase activity
GO:0005515 protein binding
GO:0008233 peptidase activity
GO:0008234 cysteine-type peptidase activity
GO:0008656 cysteine-type endopeptidase activator activity involved in apoptotic process
GO:0016787 hydrolase activity
GO:0019900 kinase binding
GO:0042802 identical protein binding
GO:0050700 CARD domain binding
GO:0097153 cysteine-type endopeptidase activity involved in apoptotic process
GO:0097200 cysteine-type endopeptidase activity involved in execution phase of apoptosis

Biological Process:
GO:0001666 response to hypoxia
GO:0006508 proteolysis
GO:0006915 apoptotic process
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0007165 signal transduction
GO:0009617 response to bacterium
GO:0010506 regulation of autophagy
GO:0016485 protein processing
GO:0016540 protein autoprocessing
GO:0019221 cytokine-mediated signaling pathway
GO:0032496 response to lipopolysaccharide
GO:0032611 interleukin-1 beta production
GO:0033198 response to ATP
GO:0042981 regulation of apoptotic process
GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling
GO:0043280 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0050715 positive regulation of cytokine secretion
GO:0050717 positive regulation of interleukin-1 alpha secretion
GO:0050718 positive regulation of interleukin-1 beta secretion
GO:0050727 regulation of inflammatory response
GO:0051882 mitochondrial depolarization
GO:0060081 membrane hyperpolarization
GO:0070269 pyroptosis
GO:0071222 cellular response to lipopolysaccharide
GO:0071260 cellular response to mechanical stimulus
GO:0071310 cellular response to organic substance
GO:0071345 cellular response to cytokine stimulus
GO:0071346 cellular response to interferon-gamma
GO:0097300 programmed necrotic cell death
GO:1901998 toxin transport
GO:1903265 positive regulation of tumor necrosis factor-mediated signaling pathway
GO:0097194 execution phase of apoptosis

Cellular Component:
GO:0005576 extracellular region
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005829 cytosol
GO:0032991 macromolecular complex
GO:0072557 IPAF inflammasome complex
GO:0072558 NLRP1 inflammasome complex
GO:0072559 NLRP3 inflammasome complex
GO:0097169 AIM2 inflammasome complex
GO:0097179 protease inhibitor complex


-  Descriptions from all associated GenBank mRNAs
  BC041689 - Homo sapiens caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase), mRNA (cDNA clone IMAGE:5583549), partial cds.
X65019 - H.sapiens mRNA for interleukin-1B converting enzyme.
HV708956 - JP 2012506450-A/54: Methods for treating eye disorders.
HV708957 - JP 2012506450-A/55: Methods for treating eye disorders.
JA482034 - Sequence 17 from Patent WO2011072091.
JA482035 - Sequence 18 from Patent WO2011072091.
JA482036 - Sequence 19 from Patent WO2011072091.
JA482037 - Sequence 20 from Patent WO2011072091.
JA482038 - Sequence 21 from Patent WO2011072091.
JE980326 - Sequence 17 from Patent EP2862929.
JE980327 - Sequence 18 from Patent EP2862929.
JE980328 - Sequence 19 from Patent EP2862929.
JE980329 - Sequence 20 from Patent EP2862929.
JE980330 - Sequence 21 from Patent EP2862929.
M87507 - Homo sapien interleukin-1 beta convertase (IL1BCE) mRNA, complete cds.
BC062327 - Homo sapiens caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase), mRNA (cDNA clone MGC:71185 IMAGE:5477096), complete cds.
AK223503 - Homo sapiens mRNA for caspase 1 isoform alpha precursor variant, clone: FCC121D07.
AK290114 - Homo sapiens cDNA FLJ77899 complete cds, highly similar to Homo sapiens caspase 1, apoptosis-related cysteine protease(interleukin 1, beta, convertase) (CASP1), transcript variantalpha, mRNA.
AK290122 - Homo sapiens cDNA FLJ75298 complete cds, highly similar to Homo sapiens caspase 1, apoptosis-related cysteine protease(interleukin 1, beta, convertase) (CASP1), transcript variant beta,mRNA.
U13697 - Human interleukin 1-beta converting enzyme isoform beta (IL1BCE) mRNA, complete cds.
U13698 - Human interleukin 1-beta converting enzyme isoform gamma (IL1BCE) mRNA, complete cds.
U13699 - Human interleukin 1-beta converting enzyme isoform delta (IL1BCE) mRNA, complete cds.
U13700 - Human interleukin 1-beta converting enzyme isoform epsilon (IL1BCE) mRNA, complete cds.
AY660536 - Homo sapiens caspase-1 isoform zeta precursor, mRNA, complete cds, alternatively spliced.
JD528785 - Sequence 509809 from Patent EP1572962.
AK313516 - Homo sapiens cDNA, FLJ94074, highly similar to Homo sapiens caspase 1, apoptosis-related cysteine protease(interleukin 1, beta, convertase) (CASP1), transcript variantalpha, mRNA.
HQ447656 - Synthetic construct Homo sapiens clone IMAGE:100071002; CCSB013747_01 caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase) (CASP1) gene, encodes complete protein.
KJ890826 - Synthetic construct Homo sapiens clone ccsbBroadEn_00220 CASP1 gene, encodes complete protein.
AB590789 - Synthetic construct DNA, clone: pFN21AE1592, Homo sapiens CASP1 gene for caspase 1, apoptosis-related cysteine peptidase, without stop codon, in Flexi system.
AK310059 - Homo sapiens cDNA, FLJ17101.
AK301037 - Homo sapiens cDNA FLJ59442 complete cds, highly similar to Caspase-1 precursor (EC 3.4.22.36).
CU687534 - Synthetic construct Homo sapiens gateway clone IMAGE:100022394 5' read CASP1 mRNA.
AK296646 - Homo sapiens cDNA FLJ58540 complete cds, highly similar to Caspase-1 precursor (EC 3.4.22.36).
AB102878 - Homo sapiens mRNA for CASP1 nirs variant 1, complete cds.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_caspasePathway - Caspase Cascade in Apoptosis
h_d4gdiPathway - D4-GDI Signaling Pathway
h_il18Pathway - IL 18 Signaling Pathway

Reactome (by CSHL, EBI, and GO)

Protein P29466 (Reactome details) participates in the following event(s):

R-HSA-448678 Caspase-1 precursor is cleaved releasing p10 and p20 subunits
R-HSA-448673 Formation of caspase-1 p10/p20 dimer
R-HSA-844612 The CARD domain of ASC recruits Procaspase-1
R-HSA-844617 IPAF binds procaspase-1
R-HSA-844618 dsDNA:AIM2:ASC cluster binds procaspase-1
R-HSA-448702 Caspase-1 active tetramer formation
R-HSA-622420 NOD1 induced apoptosis is mediated by RIP2 and CARD8
R-HSA-448703 Interleukin-1 family precursors are cleaved by caspase-1
R-HSA-448706 Interleukin-1 processing
R-HSA-844456 The NLRP3 inflammasome
R-HSA-844623 The IPAF inflammasome
R-HSA-844615 The AIM2 inflammasome
R-HSA-6803207 TP53 Regulates Transcription of Caspase Activators and Caspases
R-HSA-446652 Interleukin-1 family signaling
R-HSA-168638 NOD1/2 Signaling Pathway
R-HSA-622312 Inflammasomes
R-HSA-5633008 TP53 Regulates Transcription of Cell Death Genes
R-HSA-449147 Signaling by Interleukins
R-HSA-9008059 Interleukin-37 signaling
R-HSA-168643 Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways
R-HSA-3700989 Transcriptional Regulation by TP53
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-168249 Innate Immune System
R-HSA-212436 Generic Transcription Pathway
R-HSA-168256 Immune System
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: B5MDZ1, CASP1_HUMAN, ENST00000533400.1, ENST00000533400.2, ENST00000533400.3, ENST00000533400.4, ENST00000533400.5, IL1BC, IL1BCE, NM_001257118, P29466, Q53EY6, Q6DMQ1, Q6GSS3, Q6PI75, Q9UCN3, uc324llp.1, uc324llp.2
UCSC ID: ENST00000533400.6_8
RefSeq Accession: NM_001257118.3
Protein: P29466 (aka CASP1_HUMAN or ICE1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.