Human Gene CAST (ENST00000675179.1_6) from GENCODE V47lift37
  Description: calpastatin, transcript variant 1 (from RefSeq NM_001750.7)
Gencode Transcript: ENST00000675179.1_6
Gencode Gene: ENSG00000310517.1_1
Transcript (Including UTRs)
   Position: hg19 chr5:95,998,080-96,110,387 Size: 112,308 Total Exon Count: 32 Strand: +
Coding Region
   Position: hg19 chr5:95,998,127-96,107,383 Size: 109,257 Coding Exon Count: 31 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:95,998,080-96,110,387)mRNA (may differ from genome)Protein (791 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ICAL_HUMAN
DESCRIPTION: RecName: Full=Calpastatin; AltName: Full=Calpain inhibitor; AltName: Full=Sperm BS-17 component;
FUNCTION: Specific inhibition of calpain (calcium-dependent cysteine protease). Plays a key role in postmortem tenderization of meat and have been proposed to be involved in muscle protein degradation in living tissue.
INTERACTION: P16333:NCK1; NbExp=2; IntAct=EBI-1268770, EBI-389883;
DOMAIN: Each of the four flexible inhibitory domains can inhibit one calcium-bound calpain molecule by occupying both sides of the active site (By similarity).
PTM: The N-terminus is blocked.
SIMILARITY: Belongs to the protease inhibitor I27 (calpastatin) family.
SEQUENCE CAUTION: Sequence=AAH16066.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence;

-  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: CAST
Diseases sorted by gene-association score: peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads* (1270), cheilitis (31)
* = Manually curated disease association

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

+  Common Gene Haplotype Alleles
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+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -19.6047-0.417 Picture PostScript Text
3' UTR -446.402067-0.216 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
IPR026998 - Calpastatin
IPR001259 - Prot_inh_calpain

Pfam Domains:
PF00748 - Calpain inhibitor

ModBase Predicted Comparative 3D Structure on P20810
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    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0004866 endopeptidase inhibitor activity
GO:0004869 cysteine-type endopeptidase inhibitor activity
GO:0005515 protein binding
GO:0010859 calcium-dependent cysteine-type endopeptidase inhibitor activity
GO:0030414 peptidase inhibitor activity
GO:0045296 cadherin binding

Biological Process:
GO:0010466 negative regulation of peptidase activity
GO:0097340 inhibition of cysteine-type endopeptidase activity
GO:2000675 negative regulation of type B pancreatic cell apoptotic process

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0005829 cytosol
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  AB208816 - Homo sapiens mRNA for calpastatin isoform a variant protein.
BC016066 - Homo sapiens calpastatin, mRNA (cDNA clone IMAGE:4861420), partial cds.
KX533486 - Homo sapiens calpastatin (CAST) mRNA, complete cds.
AK296919 - Homo sapiens cDNA FLJ56102 complete cds, highly similar to Homo sapiens calpastatin (CAST), transcript variant 8, mRNA.
AK299384 - Homo sapiens cDNA FLJ53909 complete cds, moderately similar to Calpastatin.
D16217 - Homo sapiens CAST mRNA for calpastatin, complete cds.
AL832349 - Homo sapiens mRNA; cDNA DKFZp451B196 (from clone DKFZp451B196).
AK303900 - Homo sapiens cDNA FLJ52045 complete cds, highly similar to Homo sapiens calpastatin (CAST), transcript variant 5, mRNA.
AK314290 - Homo sapiens cDNA, FLJ95046.
AK315146 - Homo sapiens cDNA, FLJ96117, highly similar to Homo sapiens calpastatin (CAST), transcript variant 4, mRNA.
AK299402 - Homo sapiens cDNA FLJ50632 complete cds, highly similar to Calpastatin.
AK298541 - Homo sapiens cDNA FLJ56123 complete cds, highly similar to Calpastatin.
AK300624 - Homo sapiens cDNA FLJ50686 complete cds, highly similar to Calpastatin.
AL832174 - Homo sapiens mRNA; cDNA DKFZp686K2216 (from clone DKFZp686K2216).
BX648397 - Homo sapiens mRNA; cDNA DKFZp686N07213 (from clone DKFZp686N07213).
AK303836 - Homo sapiens cDNA FLJ52193 complete cds, highly similar to Calpastatin.
AK297879 - Homo sapiens cDNA FLJ59277 complete cds, highly similar to Calpastatin.
M86258 - Homo sapiens calpastatin (CAST) mRNA, 5' end.
AB527289 - Synthetic construct DNA, clone: pF1KB9389, Homo sapiens CAST gene for calpastatin, without stop codon, in Flexi system.
AM393425 - Synthetic construct Homo sapiens clone IMAGE:100002556 for hypothetical protein (CAST gene).
AM393434 - Synthetic construct Homo sapiens clone IMAGE:100002280 for hypothetical protein (CAST gene).
E02261 - cDNA encoding Homo sapiens calpastatin.
DQ894668 - Synthetic construct Homo sapiens clone IMAGE:100009128; FLH177344.01L; RZPDo839G07123D calpastatin (CAST) gene, encodes complete protein.
BT009783 - Homo sapiens calpastatin mRNA, complete cds.
DQ891479 - Synthetic construct clone IMAGE:100004109; FLH177347.01X; RZPDo839G07124D calpastatin (CAST) gene, encodes complete protein.
AF327443 - Homo sapiens calpastatin mRNA, complete cds.
E02134 - cDNA encoding human carbastatin containing 4 functional units.
BC078149 - Homo sapiens calpastatin, mRNA (cDNA clone IMAGE:6070772), partial cds.
M33328 - Homo sapiens calpastatin (CAST) mRNA, partial cds.
U26724 - Homo sapiens calpastatin (BS-17) mRNA, complete cds.
MF577037 - Homo sapiens clone hcast 3-25 calpastatin (CAST) mRNA, partial cds.
MK585065 - Homo sapiens calpastatin (CAST) mRNA, complete cds.
AB026049 - Homo sapiens mRNA for heart-type calpastatin, partial cds.
JD427175 - Sequence 408199 from Patent EP1572962.
U31345 - Human calpastatin mRNA, partial cds, short 3'UTR.
AY189741 - Homo sapiens calpastatin (CAST) mRNA, partial cds; alternatively spliced.
AK311585 - Homo sapiens cDNA, FLJ18627.
AK311598 - Homo sapiens cDNA, FLJ18640.
AK302206 - Homo sapiens cDNA FLJ55287 complete cds, highly similar to Calpastatin.
AK292289 - Homo sapiens cDNA FLJ77693 complete cds, highly similar to Homo sapiens calpastatin (CAST), transcript variant 3, mRNA.
AK292356 - Homo sapiens cDNA FLJ77737 complete cds, highly similar to Homo sapiens calpastatin (CAST), transcript variant 3, mRNA.
U58996 - Homo sapiens testis calpastatin mRNA, complete cds.
AK315673 - Homo sapiens cDNA, FLJ96767, highly similar to Homo sapiens calpastatin (CAST), transcript variant 3, mRNA.
U38525 - Human placental calpastatin mRNA, partial cds.
U31346 - Human calpastatin mRNA, partial cds, long 3'UTR.
S73329 - calpastatin=glycoprotein BS-17 component {3' region} [human, sperm, mRNA Partial, 758 nt].
D50827 - Homo sapiens mRNA for calpastatin, partial cds.
AF095891 - Homo sapiens calpastatin mRNA, partial cds and 3' UTR.
AK098137 - Homo sapiens cDNA FLJ40818 fis, clone TRACH2010698.
JD228770 - Sequence 209794 from Patent EP1572962.
JD283561 - Sequence 264585 from Patent EP1572962.
JD359775 - Sequence 340799 from Patent EP1572962.
JD097303 - Sequence 78327 from Patent EP1572962.
JD050595 - Sequence 31619 from Patent EP1572962.
JD098786 - Sequence 79810 from Patent EP1572962.
JD298904 - Sequence 279928 from Patent EP1572962.
JD268575 - Sequence 249599 from Patent EP1572962.
JD092885 - Sequence 73909 from Patent EP1572962.
JD373861 - Sequence 354885 from Patent EP1572962.
JD433115 - Sequence 414139 from Patent EP1572962.
JD420833 - Sequence 401857 from Patent EP1572962.
JD280615 - Sequence 261639 from Patent EP1572962.
JD301811 - Sequence 282835 from Patent EP1572962.
JD306093 - Sequence 287117 from Patent EP1572962.
JD547358 - Sequence 528382 from Patent EP1572962.
JD088016 - Sequence 69040 from Patent EP1572962.
JD482799 - Sequence 463823 from Patent EP1572962.
JD564877 - Sequence 545901 from Patent EP1572962.
JD524036 - Sequence 505060 from Patent EP1572962.
JD524037 - Sequence 505061 from Patent EP1572962.
JD303247 - Sequence 284271 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P20810 (Reactome details) participates in the following event(s):

R-HSA-8868134 CAST binds Ca2+ bound calpain
R-HSA-8862803 Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models
R-HSA-8863678 Neurodegenerative Diseases
R-HSA-1643685 Disease

-  Other Names for This Gene
  Alternate Gene Symbols: B7Z468, G5E946, G5E9D3, ICAL_HUMAN, NM_001750, O95360, P20810, Q05DE8, Q7Z4K0, Q96D08, Q9H1Z5, uc329zit.1, uc329zit.2
UCSC ID: ENST00000675179.1_6
RefSeq Accession: NM_001750.7
Protein: P20810 (aka ICAL_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.