Human Gene CASP4 (ENST00000444739.7_7) from GENCODE V47lift37
  Description: caspase 4, transcript variant alpha (from RefSeq NM_001225.4)
Gencode Transcript: ENST00000444739.7_7
Gencode Gene: ENSG00000196954.14_15
Transcript (Including UTRs)
   Position: hg19 chr11:104,813,593-104,839,301 Size: 25,709 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg19 chr11:104,815,480-104,839,252 Size: 23,773 Coding Exon Count: 8 

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 (chr11:104,813,593-104,839,301)mRNA (may differ from genome)Protein (377 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CASP4_HUMAN
DESCRIPTION: RecName: Full=Caspase-4; Short=CASP-4; EC=3.4.22.57; AltName: Full=ICE(rel)-II; AltName: Full=Protease ICH-2; AltName: Full=Protease TX; Contains: RecName: Full=Caspase-4 subunit 1; Contains: RecName: Full=Caspase-4 subunit 2; Flags: Precursor;
FUNCTION: Involved in the activation cascade of caspases responsible for apoptosis execution. Cleaves caspase-1.
CATALYTIC ACTIVITY: Strict requirement for Asp at the P1 position. It has a preferred cleavage sequence of Tyr-Val-Ala-Asp-|- but also cleaves at Asp-Glu-Val-Asp-|-.
SUBUNIT: Heterotetramer that consists of two anti-parallel arranged heterodimers, each one formed by a small and a large subunit (By similarity).
TISSUE SPECIFICITY: Widely expressed, with highest levels in spleen and lung. Moderate expression in heart and liver, low expression in skeletal muscle, kidney and testis. Not found in the brain.
PTM: The two subunits are derived from the precursor sequence by an autocatalytic mechanism or by cleavage by Caspase-8.
SIMILARITY: Belongs to the peptidase C14A family.
SIMILARITY: Contains 1 CARD domain.
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/casp4/";

-  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: CASP4
Diseases sorted by gene-association score: neuroblastoma (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  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: 65.27 RPKM in Whole Blood
Total median expression: 662.01 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 -10.1049-0.206 Picture PostScript Text
3' UTR -16.10113-0.142 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

ModBase Predicted Comparative 3D Structure on P49662
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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  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
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:0002376 immune system process
GO:0006508 proteolysis
GO:0006915 apoptotic process
GO:0006954 inflammatory response
GO:0012501 programmed cell death
GO:0042981 regulation of apoptotic process
GO:0045087 innate immune response
GO:0050727 regulation of inflammatory response
GO:0070059 intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress
GO:0097193 intrinsic apoptotic signaling pathway
GO:1903265 positive regulation of tumor necrosis factor-mediated signaling pathway
GO:1904646 cellular response to beta-amyloid
GO:0097194 execution phase of apoptosis

Cellular Component:
GO:0005576 extracellular region
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0032991 macromolecular complex
GO:0061702 inflammasome complex
GO:0072557 IPAF inflammasome complex
GO:0072559 NLRP3 inflammasome complex
GO:0097169 AIM2 inflammasome complex


-  Descriptions from all associated GenBank mRNAs
  BC008060 - Homo sapiens cDNA clone IMAGE:2988427, containing frame-shift errors.
MA265022 - JP 2017508987-A/1: Biomarkers for lung tumor and related diagnostic methods and kit.
U28977 - Human apoptotic cysteine protease Mih1/TX isoform beta (mih1/Tx) mRNA, complete cds.
U28978 - Human apoptotic cysteine protease Mih1/TX isoform gamma (mih1/Tx) mRNA, complete cds.
U28976 - Human apoptotic cysteine protease Mih1/TX isoform alpha (mih1/Tx) mRNA, complete cds.
U28014 - Human cysteine protease (ICErel-II) mRNA, complete cds.
AK225751 - Homo sapiens mRNA for caspase 4 isoform gamma precursor variant, clone: FCC135F09.
AL050391 - Homo sapiens mRNA; cDNA DKFZp586A181 (from clone DKFZp586A181); partial cds.
Z48810 - H.sapiens mRNA for TX protease precursor.
AK057094 - Homo sapiens cDNA FLJ32532 fis, clone SMINT2000229, highly similar to CASPASE-4 PRECURSOR (EC 3.4.22.-).
BC017839 - Homo sapiens caspase 4, apoptosis-related cysteine peptidase, mRNA (cDNA clone MGC:22515 IMAGE:4699374), complete cds.
U25804 - Human Ich-2 cysteine protease mRNA, complete cds.
JD345205 - Sequence 326229 from Patent EP1572962.
JD047079 - Sequence 28103 from Patent EP1572962.
JD093965 - Sequence 74989 from Patent EP1572962.
JD093964 - Sequence 74988 from Patent EP1572962.
U28979 - Human apoptotic cysteine protease Mih1/TX isoform delta (mih1/Tx) mRNA, complete cds.
DQ891983 - Synthetic construct clone IMAGE:100004613; FLH182064.01X; RZPDo839C03138D caspase 4, apoptosis-related cysteine peptidase (CASP4) gene, encodes complete protein.
DQ895173 - Synthetic construct Homo sapiens clone IMAGE:100009633; FLH182060.01L; RZPDo839C03137D caspase 4, apoptosis-related cysteine peptidase (CASP4) gene, encodes complete protein.
AB590271 - Synthetic construct DNA, clone: pFN21AE1334, Homo sapiens CASP4 gene for caspase 4, apoptosis-related cysteine peptidase, without stop codon, in Flexi system.
JD026007 - Sequence 7031 from Patent EP1572962.
AK304222 - Homo sapiens cDNA FLJ58874 complete cds, highly similar to Caspase-4 precursor (EC 3.4.22.-).
AK296081 - Homo sapiens cDNA FLJ57735 complete cds, highly similar to Caspase-4 precursor (EC 3.4.22.-).
JD171585 - Sequence 152609 from Patent EP1572962.
JD234495 - Sequence 215519 from Patent EP1572962.
JD189907 - Sequence 170931 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_caspasePathway - Caspase Cascade in Apoptosis

Reactome (by CSHL, EBI, and GO)

Protein P49662 (Reactome details) participates in the following event(s):

R-HSA-622420 NOD1 induced apoptosis is mediated by RIP2 and CARD8
R-HSA-168638 NOD1/2 Signaling Pathway
R-HSA-168643 Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways
R-HSA-168249 Innate Immune System
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: A2NHL8, A2NHL9, A2NHM0, B3KPZ9, B4DJH5, B4E2D2, CASP4 , CASP4_HUMAN, ENST00000444739.1, ENST00000444739.2, ENST00000444739.3, ENST00000444739.4, ENST00000444739.5, ENST00000444739.6, ICH2 , NM_001225, O95601, P49662, Q7KYX7, Q9UG96, uc320mos.1, uc320mos.2
UCSC ID: ENST00000444739.7_7
RefSeq Accession: NM_001225.4
Protein: P49662 (aka CASP4_HUMAN or ICE4_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.