Human Gene CASP7 (uc010qsa.3)
  Description: Homo sapiens caspase 7, apoptosis-related cysteine peptidase (CASP7), transcript variant f, mRNA.
RefSeq Summary (NM_001267057): This gene encodes 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 two subunits, large and small, that dimerize to form the active enzyme. The precursor of the encoded protein is cleaved by caspase 3 and 10, is activated upon cell death stimuli and induces apoptosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012].
Transcript (Including UTRs)
   Position: hg19 chr10:115,439,428-115,490,668 Size: 51,241 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg19 chr10:115,439,514-115,489,299 Size: 49,786 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:115,439,428-115,490,668)mRNA (may differ from genome)Protein (388 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
H-INVHGNCHuman Cortex Gene ExpressionLynxMalacardsMGI
OMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: B4DQU7_HUMAN
DESCRIPTION: SubName: Full=Caspase-7 subunit p11; SubName: Full=cDNA FLJ55032, highly similar to Caspase-7 (EC 3.4.22.-);
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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): CASP7
CDC HuGE Published Literature: CASP7
Positive Disease Associations: diabetes, type 1 , esophageal adenocarcinoma , Magnesium , smoking cessation
Related Studies:
  1. diabetes, type 1
    Babu SR et al. 2003, Caspase 7 is a positional candidate gene for IDDM 17 in a Bedouin Arab family., Annals of the New York Academy of Sciences. 2003 Nov;1005:340-3. [PubMed 14679087]
  2. esophageal adenocarcinoma
    Liu CY et al. 2010, A Large Scale Genetic Association Study of Esophageal Adenocarcinoma Risk., Carcinogenesis 31(7) : 1259-63 2010. [PubMed 20453000]
    , this study suggests that the genetic variants of CASP7 and CASP9 in the apoptosis pathway may be important predictive markers for EA susceptibility and that PGR in the sex hormone signaling pathway may be associated with the gender differences in EA risk.
  3. Magnesium
    , , . [PubMed 0]
           more ... click here to view the complete list

-  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           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: 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 -36.5086-0.424 Picture PostScript Text
3' UTR -372.261369-0.272 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

ModBase Predicted Comparative 3D Structure on B4DQU7
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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 orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  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.-).
JD474351 - Sequence 455375 from Patent EP1572962.
JD103732 - Sequence 84756 from Patent EP1572962.
JD443915 - Sequence 424939 from Patent EP1572962.
JD138549 - Sequence 119573 from Patent EP1572962.
JD384229 - Sequence 365253 from Patent EP1572962.
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
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04210 - Apoptosis
hsa05010 - Alzheimer's disease

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

-  Other Names for This Gene
  Alternate Gene Symbols: B4DQU7, B4DQU7_HUMAN, NM_001267057, NP_001253986, uc010qsa.2
UCSC ID: uc010qsa.3
RefSeq Accession: NM_001267057
Protein: B4DQU7

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001267057.1
exon count: 7CDS single in 3' UTR: no RNA size: 2638
ORF size: 1167CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2096.00frame shift in genome: no % Coverage: 99.39
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.