Human Gene CASP7 (ENST00000369318.8_5) from GENCODE V47lift37
  Description: caspase 7, transcript variant a (from RefSeq NM_001227.5)
Gencode Transcript: ENST00000369318.8_5
Gencode Gene: ENSG00000165806.21_9
Transcript (Including UTRs)
   Position: hg19 chr10:115,439,671-115,490,664 Size: 50,994 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg19 chr10:115,457,253-115,489,299 Size: 32,047 Coding Exon Count: 6 

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 (chr10:115,439,671-115,490,664)mRNA (may differ from genome)Protein (303 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCHuman Cortex Gene ExpressionMalacardsMGIOMIMPubMed
ReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CASP7_HUMAN
DESCRIPTION: RecName: Full=Caspase-7; Short=CASP-7; EC=3.4.22.60; AltName: Full=Apoptotic protease Mch-3; AltName: Full=CMH-1; AltName: Full=ICE-like apoptotic protease 3; Short=ICE-LAP3; Contains: RecName: Full=Caspase-7 subunit p20; Contains: RecName: Full=Caspase-7 subunit p11; Flags: Precursor;
FUNCTION: Involved in the activation cascade of caspases responsible for apoptosis execution. Cleaves and activates sterol regulatory element binding proteins (SREBPs). Proteolytically cleaves poly(ADP-ribose) polymerase (PARP) at a '216-Asp-|-Gly- 217' bond. Overexpression promotes programmed cell death.
CATALYTIC ACTIVITY: Strict requirement for an Asp residue at position P1 and has a preferred cleavage sequence of Asp-Glu-Val- Asp-|-.
ENZYME REGULATION: Inhibited by isatin sulfonamides.
SUBUNIT: Heterotetramer that consists of two anti-parallel arranged heterodimers, each one formed by a 20 kDa (p20) and a 11 kDa (p11) subunit. Interacts with BIRC6/bruce.
INTERACTION: Q13490:BIRC2; NbExp=2; IntAct=EBI-523958, EBI-514538; Q13177:PAK2; NbExp=6; IntAct=EBI-523958, EBI-1045887; P98170:XIAP; NbExp=2; IntAct=EBI-523958, EBI-517127;
SUBCELLULAR LOCATION: Cytoplasm.
TISSUE SPECIFICITY: Highly expressed in lung, skeletal muscle, liver, kidney, spleen and heart, and moderately in testis. No expression in the brain.
PTM: Cleavages by granzyme B or caspase-10 generate the two active subunits. Propeptide domains can also be cleaved efficiently by caspase-3. Active heterodimers between the small subunit of caspase-7 and the large subunit of caspase-3, and vice versa, also occur.
SIMILARITY: Belongs to the peptidase C14A family.

-  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: CASP7
Diseases sorted by gene-association score: diabetes mellitus, insulin-dependent, 17 (8), aleutian mink disease (7), legionellosis (6), hepatocellular carcinoma (2), breast adenocarcinoma (2), cardiomyopathy, familial hypertrophic (2), prostate cancer (2), breast cancer (2), colorectal cancer (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: 24.44 RPKM in Colon - Transverse
Total median expression: 349.00 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 -22.7067-0.339 Picture PostScript Text
3' UTR -353.501365-0.259 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
IPR015471 - Casp7
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

SCOP Domains:
52129 - Caspase-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1F1J - X-ray MuPIT 1GQF - X-ray 1I4O - X-ray MuPIT 1I51 - X-ray MuPIT 1K86 - X-ray MuPIT 1K88 - X-ray MuPIT 1KMC - X-ray MuPIT 1MIA - Model 1SHJ - X-ray MuPIT 1SHL - X-ray 2QL5 - X-ray MuPIT 2QL7 - X-ray MuPIT 2QL9 - X-ray MuPIT 2QLB - X-ray MuPIT 2QLF - X-ray MuPIT 2QLJ - X-ray MuPIT 3EDR - X-ray MuPIT 3H1P - X-ray MuPIT 3IBC - X-ray MuPIT 3IBF - X-ray MuPIT 3R5K - X-ray MuPIT 4FDL - X-ray MuPIT 4FEA - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P55210
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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:0004197 cysteine-type endopeptidase activity
GO:0005515 protein binding
GO:0008233 peptidase activity
GO:0008234 cysteine-type peptidase activity
GO:0016787 hydrolase activity
GO:0097200 cysteine-type endopeptidase activity involved in execution phase of apoptosis

Biological Process:
GO:0006508 proteolysis
GO:0006915 apoptotic process
GO:0072734 cellular response to staurosporine
GO:0097194 execution phase of apoptosis

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  U37449 - Human Mch3 isoform beta (Mch3) mRNA, complete cds.
BX647973 - Homo sapiens mRNA; cDNA DKFZp686F0152 (from clone DKFZp686F0152).
U67206 - Homo sapiens Lice2 alpha mRNA, complete cds.
AK301437 - Homo sapiens cDNA FLJ52786 complete cds, highly similar to Caspase-7 precursor (EC 3.4.22.-).
AK223489 - Homo sapiens mRNA, caspase 7 isoform delta variant, clone: FCC119G11.
BC015799 - Homo sapiens caspase 7, apoptosis-related cysteine peptidase, mRNA (cDNA clone MGC:9176 IMAGE:3921455), complete cds.
AK300578 - Homo sapiens cDNA FLJ52760 complete cds, highly similar to Caspase-7 precursor (EC 3.4.22.-).
U40281 - Human cysteine protease CMH-1 mRNA, complete cds.
U37448 - Human Mch3 isoform alpha (Mch3) mRNA, complete cds.
U67319 - Human Lice2 beta cysteine protease mRNA, complete cds.
U67320 - Human Lice2 gamma cysteine protease mRNA, complete cds.
AB451413 - Homo sapiens CASP7 mRNA for caspase 7 isoform delta, partial cds, clone: FLJ08118AAAF.
AB451281 - Homo sapiens CASP7 mRNA for caspase 7 isoform delta, complete cds, clone: FLJ08118AAAN.
CU677451 - Synthetic construct Homo sapiens gateway clone IMAGE:100018783 5' read CASP7 mRNA.
AB590402 - Synthetic construct DNA, clone: pFN21AE1364, Homo sapiens CASP7 gene for caspase 7, apoptosis-related cysteine peptidase, without stop codon, in Flexi system.
DQ893769 - Synthetic construct Homo sapiens clone IMAGE:100008229; FLH164358.01L; RZPDo839F06161D caspase 7, apoptosis-related cysteine peptidase (CASP7) gene, encodes complete protein.
EU831939 - Synthetic construct Homo sapiens clone HAIB:100066968; DKFZo008D0423 caspase 7, apoptosis-related cysteine peptidase protein (CASP7) gene, encodes complete protein.
EU832034 - Synthetic construct Homo sapiens clone HAIB:100067063; DKFZo004D0424 caspase 7, apoptosis-related cysteine peptidase protein (CASP7) gene, encodes complete protein.
BT006683 - Homo sapiens caspase 7, apoptosis-related cysteine protease mRNA, complete cds.
DQ890614 - Synthetic construct clone IMAGE:100003244; FLH164362.01X; RZPDo839F06162D caspase 7, apoptosis-related cysteine peptidase (CASP7) gene, encodes complete protein.
U39613 - Human cysteine protease ICE-LAP3 mRNA, complete cds.
KJ896543 - Synthetic construct Homo sapiens clone ccsbBroadEn_05937 CASP7 gene, encodes complete protein.
AK298964 - Homo sapiens cDNA FLJ55032 complete cds, highly similar to Caspase-7 precursor (EC 3.4.22.-).
JD331201 - Sequence 312225 from Patent EP1572962.
JD457998 - Sequence 439022 from Patent EP1572962.
JD285803 - Sequence 266827 from Patent EP1572962.
JD320648 - Sequence 301672 from Patent EP1572962.
JD378370 - Sequence 359394 from Patent EP1572962.
JD380825 - Sequence 361849 from Patent EP1572962.
JD316651 - Sequence 297675 from Patent EP1572962.
JD155595 - Sequence 136619 from Patent EP1572962.
JD534998 - Sequence 516022 from Patent EP1572962.
JD564176 - Sequence 545200 from Patent EP1572962.
JD172509 - Sequence 153533 from Patent EP1572962.
JD315930 - Sequence 296954 from Patent EP1572962.
JD299906 - Sequence 280930 from Patent EP1572962.
JD092722 - Sequence 73746 from Patent EP1572962.
JD343376 - Sequence 324400 from Patent EP1572962.
JD436783 - Sequence 417807 from Patent EP1572962.
JD277420 - Sequence 258444 from Patent EP1572962.
JD223221 - Sequence 204245 from Patent EP1572962.
JD095887 - Sequence 76911 from Patent EP1572962.
JD531697 - Sequence 512721 from Patent EP1572962.
JD240253 - Sequence 221277 from Patent EP1572962.
JD403457 - Sequence 384481 from Patent EP1572962.
JD086545 - Sequence 67569 from Patent EP1572962.
JD126679 - Sequence 107703 from Patent EP1572962.
JD086852 - Sequence 67876 from Patent EP1572962.
JD040372 - Sequence 21396 from Patent EP1572962.
JD073180 - Sequence 54204 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_deathPathway - Induction of apoptosis through DR3 and DR4/5 Death Receptors
h_fasPathway - FAS signaling pathway ( CD95 )
h_bcellsurvivalPathway - B Cell Survival Pathway
h_chemicalPathway - Apoptotic Signaling in Response to DNA Damage
h_mitochondriaPathway - Role of Mitochondria in Apoptotic Signaling
h_DNAfragmentPathway - Apoptotic DNA fragmentation and tissue homeostasis
h_HivnefPathway - HIV-I Nef: negative effector of Fas and TNF
h_caspasePathway - Caspase Cascade in Apoptosis

Reactome (by CSHL, EBI, and GO)

Protein P55210 (Reactome details) participates in the following event(s):

R-HSA-114261 Cleavage of Procaspase-7 by the apoptosome
R-HSA-114392 Dissociation of Caspase-7 from SMAC:XIAP:Caspase-7
R-HSA-114354 SMAC binds XIAP:Caspase-7
R-HSA-201634 Caspase-mediated cleavage of FADK 1
R-HSA-351936 Caspase-mediated cleavage of claspin
R-HSA-201628 Caspase-mediated cleavage of vimentin at DSVD (85)
R-HSA-201639 Caspase-mediated cleavage of GAS2
R-HSA-351901 Caspase-mediated cleavage of MST3
R-HSA-111459 Activation of caspases through apoptosome-mediated cleavage
R-HSA-111461 Cytochrome c-mediated apoptotic response
R-HSA-111465 Apoptotic cleavage of cellular proteins
R-HSA-111464 SMAC-mediated dissociation of IAP:caspase complexes
R-HSA-111471 Apoptotic factor-mediated response
R-HSA-111463 SMAC binds to IAPs
R-HSA-75153 Apoptotic execution phase
R-HSA-111469 SMAC-mediated apoptotic response
R-HSA-109606 Intrinsic Pathway for Apoptosis
R-HSA-264870 Caspase-mediated cleavage of cytoskeletal proteins
R-HSA-109581 Apoptosis
R-HSA-5357801 Programmed Cell Death

-  Other Names for This Gene
  Alternate Gene Symbols: B4DQU7, B5BU45, CASP7 , CASP7_HUMAN, D3DRB8, ENST00000369318.1, ENST00000369318.2, ENST00000369318.3, ENST00000369318.4, ENST00000369318.5, ENST00000369318.6, ENST00000369318.7, MCH3 , NM_001227, P55210, Q13364, Q53YD5, Q5SVL0, Q5SVL3, Q96BA0, uc318hmq.1, uc318hmq.2
UCSC ID: ENST00000369318.8_5
RefSeq Accession: NM_001227.5
Protein: P55210 (aka CASP7_HUMAN or ICE7_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.