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CAST Gene(Protein Coding)

Calpastatin

GCID:
GC05P096525
GIFtS:
60
Genes Participants
UDN Logo

Aliases for CAST Gene

Aliases for CAST Gene

  • Calpastatin 2 3 3 5
  • Sperm BS-17 Component 3 4
  • Calpain Inhibitor 3 4
  • BS-17 3
  • PLACK 3

External Ids for CAST Gene

Previous GeneCards Identifiers for CAST Gene

  • GC05P095228
  • GC05P096462
  • GC05P096026
  • GC05P096085
  • GC05P096105
  • GC05P096036
  • GC05P095865
  • GC05P091188

Summaries for CAST Gene

Entrez Gene Summary for CAST Gene

  • The protein encoded by this gene is an endogenous calpain (calcium-dependent cysteine protease) inhibitor. It consists of an N-terminal domain L and four repetitive calpain-inhibition domains (domains 1-4), and it is involved in the proteolysis of amyloid precursor protein. The calpain/calpastatin system is involved in numerous membrane fusion events, such as neural vesicle exocytosis and platelet and red-cell aggregation. The encoded protein is also thought to affect the expression levels of genes encoding structural or regulatory proteins. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2010]

GeneCards Summary for CAST Gene

CAST (Calpastatin) is a Protein Coding gene. Diseases associated with CAST include Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads and Cheilitis. Among its related pathways are Degradation of the extracellular matrix and Arrhythmogenic right ventricular cardiomyopathy (ARVC). GO annotations related to this gene include poly(A) RNA binding and cysteine-type endopeptidase inhibitor activity.

UniProtKB/Swiss-Prot for CAST Gene

  • 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.

Gene Wiki entry for CAST Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CAST Gene

Genomics for CAST Gene

Products:

  1. Regulatory Element

Regulatory Elements for CAST Gene

Enhancers for CAST Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05G096691 1.7 FANTOM5 Ensembl ENCODE dbSUPER 44.9 +167.0 166960 2.4 RAD21 YY1 SMARCA5 CEBPB ZNF623 NR2F2 CEBPA RCOR2 ETV4 KDM1A CAST ENSG00000249180 LOC101929710 ENSG00000248734
GH05G096667 1.2 Ensembl ENCODE dbSUPER 62.4 +144.7 144664 3.9 CTCF CBX3 MAX RAD21 CBX5 HNF4G MAFK ZBTB11 SP2 ZBTB8A CAST ENSG00000248734 ENSG00000249180 LOC101929710 ERAP1
GH05G096659 1.3 ENCODE dbSUPER 51.2 +136.6 136635 4.5 FOXA2 ARNT ZFP64 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 CAST ENSG00000248734 ENSG00000249180
GH05G096656 1.4 Ensembl ENCODE dbSUPER 25.1 +131.8 131834 1.9 HDAC1 TBP ATF1 SIN3A ZNF766 GATA2 ZNF366 FOS IKZF2 CREM CAST ERAP1 ENSG00000248734 ENSG00000249180
GH05G096649 1.3 Ensembl ENCODE dbSUPER 22.7 +124.6 124589 1.3 SOX13 FEZF1 BCL11B RAD21 ZNF101 YY1 ZNF121 ZNF316 ZSCAN5C SCRT2 CAST LIX1 ENSG00000248734 ENSG00000249180
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CAST on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the CAST gene promoter:

Genomic Location for CAST Gene

Chromosome:
5
Start:
96,525,267 bp from pter
End:
96,779,595 bp from pter
Size:
254,329 bases
Orientation:
Plus strand

Genomic View for CAST Gene

Genes around CAST on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CAST Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CAST Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CAST Gene

Proteins for CAST Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for CAST Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P20810-ICAL_HUMAN
    Recommended name:
    Calpastatin
    Protein Accession:
    P20810
    Secondary Accessions:
    • B7Z468
    • G5E946
    • G5E9D3
    • O95360
    • Q05DE8
    • Q7Z4K0
    • Q96D08
    • Q9H1Z5

    Protein attributes for CAST Gene

    Size:
    708 amino acids
    Molecular mass:
    76573 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH16066.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

    Alternative splice isoforms for CAST Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CAST Gene

Protein Expression for CAST Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CAST Gene

Other Protein References for CAST Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CAST Gene

Domains & Families for CAST Gene

Protein Domains for CAST Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for CAST Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P20810

UniProtKB/Swiss-Prot:

ICAL_HUMAN :
  • Each of the four flexible inhibitory domains can inhibit one calcium-bound calpain molecule by occupying both sides of the active site.
  • Belongs to the protease inhibitor I27 (calpastatin) family.
Domain:
  • Each of the four flexible inhibitory domains can inhibit one calcium-bound calpain molecule by occupying both sides of the active site.
Family:
  • Belongs to the protease inhibitor I27 (calpastatin) family.
genes like me logo Genes that share domains with CAST: view

No data available for Gene Families for CAST Gene

Function for CAST Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for CAST Gene

GENATLAS Biochemistry:
calpastatin,calcium dependent cysteine endopeptidase,calpain inhibitor
UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for CAST Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 22658674
GO:0004866 endopeptidase inhibitor activity TAS 7638179
GO:0004869 cysteine-type endopeptidase inhibitor activity IEA --
GO:0005515 protein binding IPI 17474147
GO:0010859 calcium-dependent cysteine-type endopeptidase inhibitor activity IMP 2407243
genes like me logo Genes that share ontologies with CAST: view
genes like me logo Genes that share phenotypes with CAST: view

Human Phenotype Ontology for CAST Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CAST Gene

MGI Knock Outs for CAST:

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CAST Gene

Localization for CAST Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CAST gene
Compartment Confidence
endoplasmic reticulum 5
cytosol 5
nucleus 4
plasma membrane 3
cytoskeleton 2
mitochondrion 2
lysosome 2
extracellular 1

Gene Ontology (GO) - Cellular Components for CAST Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA --
GO:0005829 cytosol TAS --
GO:0016020 membrane IDA 14559243
genes like me logo Genes that share ontologies with CAST: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for CAST Gene

Pathways & Interactions for CAST Gene

genes like me logo Genes that share pathways with CAST: view

Gene Ontology (GO) - Biological Process for CAST Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010466 negative regulation of peptidase activity IEA --
GO:0010951 negative regulation of endopeptidase activity IEA --
GO:0097340 inhibition of cysteine-type endopeptidase activity IMP 2407243
GO:2000675 negative regulation of type B pancreatic cell apoptotic process IDA 15044459
genes like me logo Genes that share ontologies with CAST: view

No data available for SIGNOR curated interactions for CAST Gene

Drugs & Compounds for CAST Gene

Products:

  1. Drug

(15) Drugs for CAST Gene - From: DrugBank, ClinicalTrials, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra Target 0
Cola Nutra 1946
Gotu Kola Nutra 13

(16) Additional Compounds for CAST Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CAST: view

Transcripts for CAST Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for CAST Gene

(71) REFSEQ mRNAs :
(39) Additional mRNA sequences :
(454) Selected AceView cDNA sequences:
(44) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CAST Gene

Calpastatin:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CAST Gene

No ASD Table

Relevant External Links for CAST Gene

GeneLoc Exon Structure for
CAST
ECgene alternative splicing isoforms for
CAST

Expression for CAST Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CAST Gene

mRNA expression in normal human tissues for CAST Gene
mRNA expression by BioGPS for CAST GenemRNA expression by GTEx for CAST Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CAST Gene

This gene is overexpressed in Muscle - Skeletal (x4.0).

Protein differential expression in normal tissues from HIPED for CAST Gene

This gene is overexpressed in Nasal epithelium (13.7), Peripheral blood mononuclear cells (8.4), and Lavage (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CAST Gene



Protein tissue co-expression partners for CAST Gene

NURSA nuclear receptor signaling pathways regulating expression of CAST Gene:

CAST

SOURCE GeneReport for Unigene cluster for CAST Gene:

Hs.436186

Evidence on tissue expression from TISSUES for CAST Gene

  • Liver(4.7)
  • Lung(4.7)
  • Skin(4.7)
  • Nervous system(3.8)
  • Muscle(3.7)
  • Heart(3.3)
  • Kidney(3)
  • Blood(2.5)
  • Eye(2.5)
  • Adrenal gland(2.2)
  • Intestine(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CAST Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • immune
  • integumentary
Organs:
Head and neck:
  • mouth
Limb:
  • foot
  • hand
  • lower limb
  • upper limb
General:
  • blood
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with CAST: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for CAST Gene

Orthologs for CAST Gene

This gene was present in the common ancestor of chordates.

Orthologs for CAST Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia CAST 34 35
  • 98.93 (n)
dog
(Canis familiaris)
 Mammalia CAST 34 35
  • 84.5 (n)
cow
(Bos Taurus)
 Mammalia CAST 34 35
  • 82.4 (n)
mouse
(Mus musculus)
 Mammalia Cast 34 16 35
  • 78.85 (n)
rat
(Rattus norvegicus)
 Mammalia Cast 34
  • 75.37 (n)
oppossum
(Monodelphis domestica)
 Mammalia CAST 35
  • 57 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia CAST 35
  • 54 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves CAST 34 35
  • 61.17 (n)
lizard
(Anolis carolinensis)
 Reptilia CAST 35
  • 43 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia cast 34
  • 56.49 (n)
Str.96 34
African clawed frog
(Xenopus laevis)
 Amphibia calp3 34
zebrafish
(Danio rerio)
 Actinopterygii cast 35
  • 22 (a)
 OneToOne
Species where no ortholog for CAST was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CAST Gene

ENSEMBL:
Gene Tree for CAST (if available)
TreeFam:
Gene Tree for CAST (if available)

Paralogs for CAST Gene

No data available for Paralogs for CAST Gene

Variants for CAST Gene

Sequence variations from dbSNP and Humsavar for CAST Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs786204842 Pathogenic 96,729,723(+) AACCA(A/T)AGGTA reference, stop-gained
rs786205140 Pathogenic 96,737,879(+) CTTAA(-/A)TAGAT reference, frameshift-variant
rs786205141 Pathogenic 96,762,313(-) AACCA(-/C)TTCAG nc-transcript-variant, reference, utr-variant-3-prime, frameshift-variant
rs1000017345 -- 96,714,438(+) GGTGC(A/G)CAAGA intron-variant
rs1000071485 -- 96,714,146(+) ATTTA(A/G)TCCTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CAST Gene

Variant ID Type Subtype PubMed ID
nsv1021263 CNV loss 25217958
nsv1028741 CNV gain 25217958
nsv1142440 CNV tandem duplication 24896259
nsv436983 CNV loss 16327808
nsv509982 OTHER sequence alteration 20534489
nsv516293 CNV gain+loss 19592680
nsv598962 CNV gain 21841781
nsv598963 CNV gain 21841781
nsv819693 CNV loss 19587683
nsv830411 CNV loss 17160897

Variation tolerance for CAST Gene

Residual Variation Intolerance Score: 87.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.59; 72.38% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CAST Gene

Human Gene Mutation Database (HGMD)
CAST
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CAST

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CAST Gene

Disorders for CAST Gene

MalaCards: The human disease database

(2) MalaCards diseases for CAST Gene - From: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads
  • peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome
cheilitis
- elite association - COSMIC cancer census association via MalaCards
Search CAST in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ICAL_HUMAN
  • Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (PLACK) [MIM:616295]: An autosomal recessive disease characterized by generalized, continuous shedding of the outer layers of the epidermis, leukonychia, acral punctate keratosis, cheilitis, knuckle pads with multiple hyperkeratotic micropapules involving the interphalangeal joints, and palmoplantar keratoderma. {ECO:0000269 PubMed:25683118}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CAST

Genetic Association Database (GAD)
CAST
Human Genome Epidemiology (HuGE) Navigator
CAST
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CAST
genes like me logo Genes that share disorders with CAST: view

No data available for Genatlas for CAST Gene

Publications for CAST Gene

  1. SNPs in CAST are associated with Parkinson disease: a confirmation study. (PMID: 20127884) Allen A.S. … Satten G.A. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010) 3 22 46 64
  2. Sex differences in environmental and genetic factors for hypertension. (PMID: 18724972) Ruixing Y. … Yuming C. (Am. J. Med. 2008) 3 22 46 64
  3. Four promoters direct expression of the calpastatin gene. (PMID: 15820218) Raynaud P. … Amarger V. (Arch. Biochem. Biophys. 2005) 2 3 22 64
  4. Changes in calpastatin localization and expression during calpain activation: a new mechanism for the regulation of intracellular Ca(2+)-dependent proteolysis. (PMID: 14685690) Averna M. … Melloni E. (Cell. Mol. Life Sci. 2003) 2 3 22 64
  5. Mutation analysis of the calpastatin gene (CAST) in patients with Alzheimer's disease. (PMID: 11849768) Nakayama J. … Arinami T. (Neurosci. Lett. 2002) 3 22 46 64

Products for CAST Gene

Sources for CAST Gene

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