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Cast

calpastatin

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GeneInformationForm
GeneName Cast
Aliases ENSDARG:ENSDARG00000058693
Description calpastatin
GenomicLocation chromosome 21 9989897-10081052 reverse strand
ExternalIDs ZFIN:ZDB-GENE-050810-2;UniGene:77085;Entrez:563084;
TranscriptID ENSDART:ENSDART00000132699; ENSDART:ENSDART00000133171; ENSDART:ENSDART00000081614; ENSDART:ENSDART00000138989; ENSDART:ENSDART00000139814; ENSDART:ENSDART00000135937; ENSDART:ENSDART00000148097; ENSDART:ENSDART00000138619; ENSDART:ENSDART00000141297; ENSDART:ENSDART00000144770; ENSDART:ENSDART00000136308; ENSDART:ENSDART00000133443; ENSDART:ENSDART00000144370; ENSDART:ENSDART00000139289; ENSDART:ENSDART00000131448; ENSDART:ENSDART00000135858
mRNA NCBI:NM_001130591
GeneDescription Calpastatin (CAST) is a specific, endogenous inhibitor of the calcium-dependent neutral proteases, calpains. calpastatin stops, prevents or reduces the activity of the enzyme calpain ( a protease) which consists of the preferential cleavage of yr-Xaa, Met-Xaa or Arg-Xaa with Leu or Val as the P2 residue. Cast plays an important role in muscle growth.
GeneFunction Lepage et al. (2008) identified a single CAST ortholog that produces multiple transcript variants through alternative splicing of exons 46.
GeneCloning cast is contained in BAC clone DKEY-93M12 (Vector: pIndigoBAC-536).
GeneStructure The gene encodes for a sixteen trancripts.Transcript . Transcript ENSDART00000132699 consist of 30 exons and is 3766bps in length. The protein product (ENSDARP00000114134) consist of 828 nresidues Transcript ENSDART00000081614 consist of 30 exons and is 2564bps in length. The protein product (ENSDARP00000076055) consist of 819 nresidues Transcript ENSDART00000133171 consist of 8 exons and is 1062bps in length. The protein product (ENSDARP00000116399) consist of 190 nresidues Transcript ENSDART00000138619 consist of 12 exons and is 977bps in length. The protein product (ENSDARP00000122232) consist of 296 nresidues Transcript ENSDART00000133443 consist of 10 exons and is 855bps in length. The protein product (ENSDARP00000116524) consist of 274 nresidues Transcript ENSDART00000141297 consist of 12 exons and is 843bps in length. The protein product (ENSDARP00000122555) consist of 270 nresidues Transcript ENSDART00000139814 consist of 11 exons and is 762bps in length. The protein product (ENSDARP00000118818) consist of 226 nresidues Transcript ENSDART00000148097 consist of 9 exons and is 747bps in length. The protein product (ENSDARP00000114401) consist of 230 nresidues Transcript ENSDART00000135937 consist of 9 exons and is 729bps in length. The protein product (ENSDARP00000115470) consist of 227 nresidues Transcript ENSDART00000131448 consist of 8 exons and is 710bps in length. The protein product (ENSDARP00000117674) consist of 220 nresidues Transcript ENSDART00000136308 consist of 8 exons and is 645bps in length. The protein product (ENSDARP00000119390) consist of 173 nresidues Transcript ENSDART00000144770 consist of 7 exons and is 576bps in length. The protein product (ENSDARP00000121051) consist of 144 nresidues Transcript ENSDART00000139289 consist of 7 exons and is 462bps in length. The protein product (ENSDARP00000123069) consist of 124 nresidues Transcript ENSDART00000144370 consist of 7 exons and is 398bps in length. The protein product (ENSDARP00000120416) consist of 106 nresidues Transcript ENSDART00000138989 consist of 3 exons and is 467bps in length. It does not code for any protein. Transcript ENSDART00000135858 consist of 2 exons and is 328bps in length. It does not code for any protein.
Protein ENSDARP00000114134 ENSDARP00000116399 ENSDARP00000076055 ENSDARP00000118818 ENSDARP00000115470 ENSDARP00000114401 ENSDARP00000122232 ENSDARP00000122555 ENSDARP00000121051 ENSDARP00000119390 ENSDARP00000116524 ENSDARP00000120416 ENSDARP00000123069 ENSDARP00000117674
ProteinDomainandFamilies has domain InterPro:IPR001259; InterPro:IPR026998
Motifs has motif PFAM:PF00748
Expression ArrayExpress:ENSDARG00000058693
GeneOntology GO:0010859
Orthologs Entrez:831;
VariationAndRepeats RSID:rs41060690; RSID:rs41060690; RSID:rs41228882; RSID:rs41228882; RSID:rs41228882; RSID:rs40693513; RSID:rs40693513; RSID:rs40693513; RSID:rs40664426; RSID:rs40664426; RSID:rs40664426; RSID:rs40852407; RSID:rs40852407; RSID:rs40852407; RSID:rs41109611; RSID:rs41109611; RSID:rs41109611; RSID:rs40919242; RSID:rs40919242; RSID:rs40919242; RSID:rs40788267; RSID:rs40788267; RSID:rs40788267; RSID:rs40669055; RSID:rs40669055; RSID:rs40669055; RSID:rs40834777; RSID:rs40834777; RSID:rs40834777; RSID:rs40679116; RSID:rs40679116; RSID:rs40679116; RSID:rs40679116; RSID:rs40679115; RSID:rs40679115; RSID:rs40679115; RSID:rs41104295; RSID:rs41104295; RSID:rs40666105; RSID:rs40666105; RSID:rs40784075; RSID:rs40784075; RSID:rs40784075; RSID:rs40784075; RSID:rs40784075; RSID:rs40784075; RSID:rs40784075; RSID:rs40784075; RSID:rs40784075; RSID:rs40784075; RSID:rs40784075; RSID:rs40784075; RSID:rs40784075;
DisordersAndMutations

RelatedPubMedArticles Lepage, S.E.; Bruce, A.E.: Characterization and comparative expression of zebrafish calpain system genes during early development. Dev Dyn. 237(3):819-29, Mar 2008. PMID:18265014 Salem M, Yao J, Rexroad CE, Kenney PB, Semmens K, Killefer J, Nath J. Characterization of calpastatin gene in fish: its potential role in muscle growth and fillet quality. Comp Biochem Physiol B Biochem Mol Biol. 141(4):488-97, Aug 2005. PMID:15990347 NCBI Resource Coordinators.: Database resources of the National Center for Biotechnology Information. Nucleic Acids Res. 41(Database issue):D8-D20. 2013. PMID:23193264
Kersey, P. J.; Allen, J. E.; Christensen, M.; et al.: Ensembl Genomes 2013: scaling up access to genome-wide data. Nucleic Acids Res. 2013. PMID:24163254
Sigrist, C. J. A.; de, Castro, E; Cerutti, L; Cuche, B. A.; Hulo, N.; Bridge, A.; Bougueleret, L. Xenarios, I.: New and continuing developments at PROSITE. Nucleic Acids Res. doi: 10.1093/nar/gks1067. 2012. PMID:23161676
Punta, M.; Coggill, P. C.; Eberhardt, et al.: The Pfam protein families database. Nucleic Acids Res. 40(Database Issue):D290-D301. 2012. PMID:22127870
Hunter, S.; Jones P.; Mitchell A.; et al.: Interpro in 2011: new developments in the family and domain prediction database. Nucleic Acids Res. doi: 10.1093/nar/gkr948. 2011. PMID:22096229
Carbon, S.; Ireland, A.; Mungall, C. J.; Shu, S.; Marshall, B.; Lewis, S.; AMIGO Hub; Web Presence Working Group.: AMIGO: online access to ontology and annotation data. Bioinformatics. 25(2):288-9. 2009. PMID:19033274
Ashburner, M.; Ball, C. A.; Blake, J. A.; et al. The Gene Ontology Consortium.: Gene ontology: tool for the unification of biology. Nat. Genet. 25(1):25-9. 2000. PMID:10802651
Sherry, S. T.; Ward, M. H.; Kholodov, M.; Baker, J.; Phan, L.; Smigielski, E. M.; Sirotkin, K.: dbSNP: the NCBI database of genetic variation. Nucleic Acids Res. 1;29(1):308-11. 2001. PMID:11125122
Bradford, Y.; Conlin, T.; Dunn, N.; et al.: ZFIN: enhancements and updates to the zebrafish model organism database. Nucleic Acids Res. 39(suppl 1):D822-D829. 2011. PMID:21036866
Kapushesky, M.; Adamusiak, T.; Burdett, T.; et al.: Gene Expression Atlas update--a value-added database of microarray and sequencing-based functional genomics experiments. Nucleic Acids Res. 40(Database isue):D1077-81. 2012. PMID:22064864

Web resources:
NCBI: http://www.ncbi.nlm.nih.gov/
PFAM: http://pfam.sanger.ac.uk/
PROSITE: http://prosite.expasy.org/
Interpro: http://www.ebi.ac.uk/interpro/
ZFIN: http://zfin.org/
Expression Atlas (EMBL): http://www.ebi.ac.uk/gxa/
Ensembl: http://asia.ensembl.org/Danio_rerio/
Database of Single Nucleotide Polymorphisms (dbSNP). Bethesda (MD): National Center for Biotechnology Information, National Library of Medicine.: http://www.ncbi.nlm.nih.gov/SNP/
PRINTS from Genomenet: http://www.genome.jp/
European Nucleotide Archive: http://www.ebi.ac.uk/ena/home
UNIGENE: http://www.ncbi.nlm.nih.gov/unigene/
AMIGO Gene Ontology: http://amigo.geneontology.org
Topic revision: r2 - 2013-07-06 - ParasSehgal
 
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