Human Gene CASP1 (ENST00000532439.6) from GENCODE V44
  Description: Belongs to the peptidase C14A family. (from UniProt H0YEC7)
RefSeq Summary (NM_033293): 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].
Gencode Transcript: ENST00000532439.6
Gencode Gene: ENSG00000137752.25
Transcript (Including UTRs)
   Position: hg38 chr11:105,025,443-105,031,175 Size: 5,733 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg38 chr11:105,025,553-105,031,175 Size: 5,623 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:105,025,443-105,031,175)mRNA (may differ from genome)Protein (239 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblExonPrimerGeneCardsHGNCMalacards
MGIPubMedUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: H0YEC7_HUMAN
DESCRIPTION: SubName: Full=Caspase-1 subunit p20; Flags: Fragment;
SIMILARITY: Belongs to the peptidase C14A family.
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  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

-  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
3' UTR -17.80110-0.162 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
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:
PF00656 - Caspase domain

ModBase Predicted Comparative 3D Structure on H0YEC7
FrontTopSide
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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004197 cysteine-type endopeptidase activity
GO:0008233 peptidase activity
GO:0008234 cysteine-type peptidase activity
GO:0016787 hydrolase activity

Biological Process:
GO:0006508 proteolysis


-  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.
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.
X65019 - H.sapiens mRNA for interleukin-1B converting enzyme.
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.
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

-  Other Names for This Gene
  Alternate Gene Symbols: BC062327, ENST00000532439.1, ENST00000532439.2, ENST00000532439.3, ENST00000532439.4, ENST00000532439.5, H0YEC7, H0YEC7_HUMAN, uc058gya.1, uc058gya.2
UCSC ID: ENST00000532439.6
RefSeq Accession: NM_033293
Protein: H0YEC7

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