Genomes and Genes
Gene Symbol: Capn3
Description: calpain 3
Alias: AI323605, Capa-3, Capa3, Lp82, p94, CANP 3, calcium-activated neutral proteinase 3, calpain L3, calpain p94, calpain-3, muscle-specific calcium-activated neutral protease 3, skeletal muscle specific calpain p94
- Pathogenity of some limb girdle muscular dystrophy mutations can result from reduced anchorage to myofibrils and altered stability of calpain 3Natalia Ermolova
Department of Neurology, David Geffen School of Medicine at University of California, Los Angeles, CA 90095, USA
Hum Mol Genet 20:3331-45. 2011b>Calpain 3 (CAPN3) is a muscle-specific, calcium-dependent proteinase that is mutated in Limb Girdle Muscle Dystrophy type 2A...
- Null mutation of calpain 3 (p94) in mice causes abnormal sarcomere formation in vivo and in vitroI Kramerova
Department of Pediatrics and Mattel Children s Hospital, David Geffen School of Medicine at University of California, Los Angeles 90095 1606, USA
Hum Mol Genet 13:1373-88. 2004..One potential mediator of this process is the protease calpain 3 (C3), the protein mutated in limb girdle muscular dystrophy type 2A...
- Down-regulation of MyoD by calpain 3 promotes generation of reserve cells in C2C12 myoblastsPascal Stuelsatz
Universite Bordeaux 1, Unité Protéolyse Croissance et Développement Musculaire, Institut National de la Recherche Agronomique, USC 2009, Avenue des Facultes, F 33405 Talence, France
J Biol Chem 285:12670-83. 2010b>Calpain 3 is a calcium-dependent cysteine protease that is primarily expressed in skeletal muscle and is implicated in limb girdle muscular dystrophy type 2A...
- A new pathway encompassing calpain 3 and its newly identified substrate cardiac ankyrin repeat protein is involved in the regulation of the nuclear factor-κB pathway in skeletal muscleLydie Laure
Genethon, CNRS UMR8587 LAMBE, Evry, France
FEBS J 277:4322-37. 2010A multiprotein complex encompassing a transcription regulator, cardiac ankyrin repeat protein (CARP), and the calpain 3 protease was identified in the N2A elastic region of the giant sarcomeric protein titin...
- Age-related cataracts in alpha3Cx46-knockout mice are dependent on a calpain 3 isoformYajun Tang
Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, Illinois 60612, USA
Invest Ophthalmol Vis Sci 48:2685-94. 2007..In the present study, a more in vivo-relevant model was generated to test the hypothesis that the calpain 3 gene is involved in age-related nuclear cataractogenesis in alpha3Cx46 knockout mice.
- A proteomic study of calpain-3 and its involvement in limb girdle muscular dystrophy type 2aIlenia Bertipaglia
Department of Biochemistry University of Padova, and Venetian Institute of Molecular Medicine, Padova, Italy
Cell Calcium 46:356-63. 2009..In vitro experiments have then revealed that only PDLIM1 is cleaved directly by the protease, and that a fragment of about 8 kDa is released from the C-terminal portion of the protein...
- Removal of the calpain 3 protease reverses the myopathology in a mouse model for titinopathiesKarine Charton
Genethon, CNRS UMR8587 LAMBE, 1 rue de l Internationale, Evry, France
Hum Mol Genet 19:4608-24. 2010..The mutation leads to the loss of the very C-terminal end of titin and to a secondary deficiency of calpain 3, a partner of titin...
- Multiple molecular interactions implicate the connectin/titin N2A region as a modulating scaffold for p94/calpain 3 activity in skeletal muscleChikako Hayashi
Department of Enzymatic Regulation for Cell Functions Calpain Project, The Tokyo Metropolitan Institute of Medical Science Rinshoken, Tokyo, Japan
J Biol Chem 283:14801-14. 2008p94/calpain 3 is a skeletal muscle-specific Ca(2+)-regulated cysteine protease (calpain), and genetic loss of p94 protease activity causes muscular dystrophy (calpainopathy)...
- NF-kappaB-dependent expression of the antiapoptotic factor c-FLIP is regulated by calpain 3, the protein involved in limb-girdle muscular dystrophy type 2ABéatrice Benayoun
Généthon CNRS FRE3018, 1, 91000 Evry, France
FASEB J 22:1521-9. 2008..muscular dystrophy type 2A (LGMD2A) is a recessive genetic disorder caused by mutations in the cysteine protease calpain 3 (CAPN3) that leads to selective muscle wasting...
- Identification of putative in vivo substrates of calpain 3 by comparative proteomics of overexpressing transgenic and nontransgenic miceNiaz Cohen
Department of Neurology, and UCLA Duchenne Muscular Dystrophy Research Center, University of California, Los Angeles, CA 90095 7334, USA
Proteomics 6:6075-84. 2006b>Calpain 3 (CAPN3) is a calcium-dependent protease, mutations in which cause limb girdle muscular dystrophy type 2A...
- Newly identified exons encoding novel variants of p94/calpain 3 are expressed ubiquitously and overlap the alpha-glucosidase C geneYukiko Kawabata
Laboratory of Biological Function, Department of Applied Biological Chemistry, Graduate School of Agricultural and Life Sciences, University of Tokyo, 1 1 1 Yayoi, Bunkyo ku, Tokyo 113 8657, Japan
FEBS Lett 555:623-30. 2003There are two classes of an intracellular 'modulator protease', calpain: ubiquitous and tissue-specific. p94/calpain 3 is an example of the latter, predominantly expressed in muscle. A defect in the p94 gene causes muscular dystrophy...
- Calpain 3 is activated through autolysis within the active site and lyses sarcomeric and sarcolemmal componentsMathieu Taveau
Genethon, CNRS UMR 8115, 1 rue de l Internationale, 91000 Evry, France
Mol Cell Biol 23:9127-35. 2003b>Calpain 3 (Capn3) is known as the skeletal muscle-specific member of the calpains, a family of intracellular nonlysosomal cysteine proteases...
- Force impairment in calpain 3-deficient mice is not correlated with mechanical disruptionFrancoise Fougerousse
Centre National de la Recherche Scientifique, Unité Mixte de Recherche 8115 Généthon, 1 rue de l Internationale, BP 60, 91002 Evry, France
Muscle Nerve 27:616-23. 2003Defects in human calpain 3 are responsible for limb-girdle muscular dystrophy type 2A, an autosomal-recessive disorder characterized mainly by late-onset proximal muscular atrophy...
- Regulation of the M-cadherin-beta-catenin complex by calpain 3 during terminal stages of myogenic differentiationIrina Kramerova
Department of Neurology, David Geffen School of Medicine, Neuroscience Research Building, University of California at Los Angeles, Los Angeles, CA 90095 7334, USA
Mol Cell Biol 26:8437-47. 2006The cysteine protease calpain 3 (CAPN3) is essential for normal muscle function, since mutations in CAPN3 cause limb girdle muscular dystrophy type 2A...
- C/EBPalpha is required for proteolytic cleavage of cyclin A by calpain 3 in myeloid precursor cellsAlana L Welm
Department of Pathology and Huffington Center on Aging, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
J Biol Chem 277:33848-56. 2002..findings that implicate CCAAT/enhancer-binding protein (C/EBPalpha) in regulating the expression and activity of calpain 3 in vivo and data showing a new physiological substrate for calpain 3, cyclin A...
- Mitochondrial abnormalities, energy deficit and oxidative stress are features of calpain 3 deficiency in skeletal muscleIrina Kramerova
Department of Neurology, David Geffen School of Medicine at University of California, Los Angeles, CA 90095, USA
Hum Mol Genet 18:3194-205. 2009..Taken together, these data suggest that mitochondrial abnormalities leading to oxidative stress and energy deficit are important pathological features of calpainopathy and possibly represent secondary effects of the absence of calpain-3...
- Suppressed disassembly of autolyzing p94/CAPN3 by N2A connectin/titin in a genetic reporter systemYasuko Ono
Department of Enzymatic Regulation for Cell Functions, Tokyo Metropolitan Institute of Medical Science Rinshoken, Tokyo 113 8613, Japan
J Biol Chem 281:18519-31. 2006p94/calpain 3 is a skeletal muscle-specific member of the Ca(2+)-regulated cytosolic cysteine protease family, the calpains...
- Novel role of calpain-3 in the triad-associated protein complex regulating calcium release in skeletal muscleIrina Kramerova
Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA
Hum Mol Genet 17:3271-80. 2008Calpain-3 (CAPN3) is a non-lysosomal cysteine protease that is necessary for normal muscle function, as mutations in CAPN3 result in an autosomal recessive form of limb girdle muscular dystrophy type 2A...
- Loss of calpain 3 proteolytic activity leads to muscular dystrophy and to apoptosis-associated IkappaBalpha/nuclear factor kappaB pathway perturbation in miceI Richard
Genethon, CNRS URA 1922 1923, 91000 Evry, France
J Cell Biol 151:1583-90. 2000b>Calpain 3 is known as the skeletal muscle-specific member of the calpains, a family of intracellular nonlysosomal cysteine proteases...
- Mdm muscular dystrophy: interactions with calpain 3 and a novel functional role for titin's N2A domainKimberly A Huebsch
The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA
Hum Mol Genet 14:2801-11. 2005..in the giant sarcomeric protein titin (TTN) adjacent to a binding site for the muscle-specific protease calpain 3 (CAPN3)...
- Expression and functional characteristics of calpain 3 isoforms generated through tissue-specific transcriptional and posttranscriptional eventsM Herasse
Genethon, CNRS URA 1922, 91000 Evry, France
Mol Cell Biol 19:4047-55. 1999b>Calpain 3 is a nonlysosomal cysteine protease whose biological functions remain unknown. We previously demonstrated that this protease is altered in limb girdle muscular dystrophy type 2A patients...
- Structure and physiological function of calpainsH Sorimachi
Laboratory of Molecular Structure and Function, Institute of Molecular and Cellular Biosciences, University of Tokyo, 1 1 1 Yayoi, Bunkyo ku, Tokyo 113, Japan
Biochem J 328:721-32. 1997..For example, p94 (also called calpain 3), a mammalian calpain homologue predominantly expressed in skeletal muscle, is genetically proved to be ..
- Myogenic stage, sarcomere length, and protease activity modulate localization of muscle-specific calpainKoichi Ojima
Department of Enzymatic Regulation for Cell Functions, Tokyo Metropolitan Institute of Medical Science, Tokyo, Japan
J Biol Chem 282:14493-504. 2007p94/calpain 3 is a Ca(2+)-binding intracellular protease predominantly expressed in skeletal muscles. p94 binds to the N2A and M-line regions of connectin/titin and localizes in the Z-bands...
- Stable expression of calpain 3 from a muscle transgene in vivo: immature muscle in transgenic mice suggests a role for calpain 3 in muscle maturationM J Spencer
Department of Pediatrics, University of California, Los Angeles, CA 90095, USA
Proc Natl Acad Sci U S A 99:8874-9. 2002..disorder that causes late-onset muscle-wasting, and is due to mutations in the muscle-specific protease calpain 3 (C3)...
- Human-mouse differences in the embryonic expression patterns of developmental control genes and disease genesF Fougerousse
URA CNRS 1922 Généthon, 1 rue de l Internationale, BP 60, 91002 Evry, France
Hum Mol Genet 9:165-73. 2000..b>CAPN3, the locus for LGMD2A limb girdle muscular dystrophy, and its mouse orthologue differ extensively in expression in ..
- Possible regulation of the conventional calpain system by skeletal muscle-specific calpain, p94/calpain 3Yasuko Ono
Department of Applied Biological Chemistry, Graduate School of Agricultural and Life Sciences, University of Tokyo, Tokyo 113 8657, Japan
J Biol Chem 279:2761-71. 2004p94 (also called calpain 3) is the skeletal muscle-specific calpain and is considered to be a "modulator protease" in various cellular processes...
- Impaired calcium calmodulin kinase signaling and muscle adaptation response in the absence of calpain 3I Kramerova
Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA
Hum Mol Genet 21:3193-204. 2012Mutations in the non-lysosomal, cysteine protease calpain 3 (CAPN3) result in the disease limb girdle muscular dystrophy type 2A (LGMD2A)...
- C3KO mouse expression analysis: downregulation of the muscular dystrophy Ky protein and alterations in muscle agingOihane Jaka
Biodonostia Institute, Hospital Universitario Donostia, San Sebastian, Spain
Neurogenetics 13:347-57. 2012Mutations in CAPN3 gene cause limb-girdle muscular dystrophy type 2A (LGMD2A) characterized by muscle wasting and progressive degeneration of scapular and pelvic musculature...
- Rbfox1 downregulation and altered calpain 3 splicing by FRG1 in a mouse model of Facioscapulohumeral muscular dystrophy (FSHD)Mariaelena Pistoni
Dulbecco Telethon Institute and Division of Regenerative Medicine, San Raffaele Scientific Institute, Milano, Italy
PLoS Genet 9:e1003186. 2013..Among the genes affected is Calpain 3, which is mutated in limb girdle muscular dystrophy, a disease phenotypically similar to FSHD...
- skNAC depletion stimulates myoblast migration and perturbs sarcomerogenesis by enhancing calpain 1 and 3 activityJanine Berkholz
Charite University Medicine Berlin, Institute of Physiology, Thielallee 71, D 14195 Berlin, Germany
Biochem J 453:303-10. 2013..to enhanced, and overexpression of the skNAC gene to repressed, activity of calpain 1 and, to a lesser extent, calpain 3 in myoblasts...
- Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophyXiaoyan Lin
Department of Neuroscience, University of Rochester Medical Center, Rochester, NY 14642, USA
Hum Mol Genet 15:2087-97. 2006..Sequestration of MBNL1, and failure to maintain these splicing transitions, has a pivotal role in the pathogenesis of muscle disease in DM...
- Positional cloning and molecular characterization of an immunodominant cytotoxic determinant of the mouse H3 minor histocompatibility complexA R Zuberi
The Jackson Laboratory, Bar Harbor, Maine 04609, USA
Immunity 9:687-98. 1998..A region of ZFP106 is identical to a 600-amino acid sequence implicated in the insulin receptor signaling pathway...
- Skeletal muscle-specific calpain is an intracellular Na+-dependent proteaseYasuko Ono
Calpain Project, The Tokyo Metropolitan Institute of Medical Science Rinshoken, Tokyo 156 8506, Japan
J Biol Chem 285:22986-98. 2010..However, we found that p94/calpain 3, a skeletal-muscle-specific member of the Ca(2+)-activated intracellular "modulator proteases" that is ..
- Dynamic distribution of muscle-specific calpain in mice has a key role in physical-stress adaptation and is impaired in muscular dystrophyKoichi Ojima
Calpain Project, The Tokyo Metropolitan Institute of Medical Science Rinshoken, Tokyo, Japan
J Clin Invest 120:2672-83. 2010Limb-girdle muscular dystrophy type 2A (LGMD2A) is a genetic disease that is caused by mutations in the calpain 3 gene (CAPN3), which encodes the skeletal muscle-specific calpain, calpain 3 (also known as p94)...
- Altered gene expression for calpain/calpastatin system in motor neuron degeneration (Mnd) mutant mouse brain and spinal cordJ Li
Mailman Research Center, McLean Hospital, Belmont, MA 02178, USA
Brain Res Mol Brain Res 53:174-86. 1998..Western blots and competitive RT-PCR analyses of brain and spinal cord homogenates are confirmative. Such altered gene expression in specific cell types of brain and spinal cord suggests the involvement of the calpain/calpastatin system...
- Highly conserved structure in the promoter region of the gene for muscle-specific calpain, p94H Sorimachi
Department of Molecular Biology, University of Tokyo, Japan
Biol Chem 377:859-64. 1996b>p94 belongs to the calcium-dependent cysteine protease (calpain) family which has been detected from human to mold...
- Calpain translocation during muscle fiber necrosis and regeneration in dystrophin-deficient miceM J Spencer
Department of Physiological Science, University of California, Los Angeles 90095 1527, USA
Exp Cell Res 226:264-72. 1996..Furthermore, the stages of pathology at which calpain cleavage is least coincides with those stages when calpain is most concentrated at the cell membrane, suggesting that calpain is retained in an inactive form at the plasma membrane...
- Regional differences in gene expression for calcium activated neutral proteases (calpains) and their endogenous inhibitor calpastatin in mouse brain and spinal cordJ Li
Laboratory for Molecular Neuroscience, Mailman Research Center, McLean Hospital, Belmont, Massachusetts, USA
J Neurobiol 30:177-91. 1996....
- Molecular cloning of mouse canp3, the gene associated with limb-girdle muscular dystrophy 2A in humanI Richard
URA 1922 Généthon, 1 rue de l internationale BP 60, 91002 Evry, France
Mamm Genome 7:377-9. 1996
- Four genes for the calpain family locate on four distinct human chromosomesS Ohno
Department of Molecular Biology, Tokyo Metropolitan Institute of Medical Science, Japan
Cytogenet Cell Genet 53:225-9. 1990..The genes for calpain L1 (CAPN1, large subunit of calpain I), L2 (CAPN2, large subunit of calpain II), L3 (CAPN3, a protein related to the large subunits), and S (CAPN4, a small subunit common to calpains I and II) were ..
- Characterization of the calcium-dependent proteolytic system in a mouse muscle cell lineElise Dargelos
Laboratoire de Biochimie et Technologie des Aliments, ISTAB, USC INRA 429, Universite Bordeaux I, Talence, France
Mol Cell Biochem 231:147-54. 2002..results mainly show that the expression of ubiquitous calpains (calpain 1 and 2) and muscle-specific calpain (calpain 3) at the mRNAs level as well as at the protein level do not change significantly all along this biological ..
- Protein expression patterns for ubiquitous and tissue specific calpains in the developing mouse lensNathan A Reed
Department of Biological Sciences, The University of Delaware, Newark, DE 19716 2590, USA
Exp Eye Res 76:433-43. 2003..Ubiquitous type calpain 2 and calpain 10 and lens specific Lp82 and Lp85 protein distribution were determined using immunohistochemistry and immunoblotting in embryonic and post-..
- Calpain expression and activity during lens fiber cell differentiationAlicia De Maria
Department of Ophthalmology and Visual Sciences, Washington University, St Louis, Missouri 63110, USA
J Biol Chem 284:13542-50. 2009..These indicated that, unlike calpain 1, 2, and 7, which were most abundant in cells near the lens surface, calpain 3 expression was strongest in the deep cortical region of the lens...
- Cd14, Gbp1, and Pla2g2a: three major candidate genes for experimental IBD identified by combining QTL and microarray analysesMaike F de Buhr
Central Animal Facility, Institute for Laboratory Animal Science, Hannover Medical School, Hannover, Germany
Physiol Genomics 25:426-34. 2006..In conclusion, the large number of candidate genes was reduced to three major candidates that play an important role in inflammatory processes and immune response. Strain differences for them are already known or are shown in this study...
- Possible functions of p94 in connectin-mediated signaling pathways in skeletal muscle cellsKoichi Ojima
Department of Enzymatic Regulation for Cell Function, The Metropolitan Institute of Medical Science Rinshoken, 3 18 22 Honkomagome, 113 8613, Bunkyo ku, Tokyo, Japan
J Muscle Res Cell Motil 26:409-17. 2005..b>p94/calpain3, a skeletal-muscle specific calpain, has been one of the representative calpain species which indicates ..
- Induction and myofibrillar targeting of CARP, and suppression of the Nkx2.5 pathway in the MDM mouse with impaired titin-based signalingChristian C Witt
Institut fur Anasthesiologie und Operative Intensivmedizin, Universitatsklinikum Mannheim, Mannheim 68167, Germany
J Mol Biol 336:145-54. 2004..The mdm mutation excises the C-terminal portion of titin's N2A region, abolishing its interaction with p94/calpain-3 protease...
- A unique case of limb-girdle muscular dystrophy type 2A carrying novel compound heterozygous mutations in the human CAPN3 geneE Matsubara
Department of Neurology, Okayama University, Okayama, Japan
Eur J Neurol 14:819-22. 2007..Asymmetrical wasting of muscles in the extremities exhibited uniform and highly selective CT imaging patterns. RNA and DNA analyses confirmed novel compound heterozygous mutations (R147X/L212F) in the human CAPN3 gene.
- Involvement of calpains in Ca2+-induced disruption of excitation-contraction coupling in mammalian skeletal muscle fibersEsther Verburg
Dept of Zoology, La Trobe University, Melbourne, Victoria, 3086, Australia
Am J Physiol Cell Physiol 296:C1115-22. 2009..We conclude that calpain-3 is not responsible for Ca(2+)-induced disruption of EC coupling, but that mu-calpain is a plausible candidate...
- Genetic determinants of weight of fast- and slow-twitch skeletal muscle in 500-day-old mice of the C57BL/6J and DBA/2J lineageA Lionikas
Center for Developmental and Health Genetics, The Pennsylvania State University, University Park, PA 16802, USA
Physiol Genomics 21:184-92. 2005..In summary, muscle weight in B6/D2 lineage is affected by a polygenic system that has variable influences at different ages, between males and females, and across muscles in a manner independent of muscle type...
- Novel allele of crybb2 in the mouse and its expression in the brainKoustav Ganguly
Institutes of Developmental Genetics, Helmholtz Center Munich, German Research Center for Environmental Health, Neuherberg, Germany
Invest Ophthalmol Vis Sci 49:1533-41. 2008..O377 was identified as a new dominant cataract mutation in mice after radiation experiments. The purpose of this study was to genetically characterize the mutation and to analyze its biological consequences...
- Down-regulation of genes in the lysosomal and ubiquitin-proteasome proteolytic pathways in calpain-3-deficient muscleLydie Combaret
Human Nutrition Research Center of Clermont Ferrand, Nutrition and Protein Metabolism Unit, INRA UR551 63122, Ceyrat, France
Int J Biochem Cell Biol 35:676-84. 2003..This suggests new pathophysiological hypotheses, e.g. a lack of maturation of NFkappaB precursor and/or a defect in specific substrate targeting...
- Cardiac ankyrin repeat protein is a marker of skeletal muscle pathological remodellingLydie Laure
Généthon CNRS FRE3087, Evry, France
FEBS J 276:669-84. 2009..by transient or definitive denervation, as well as in four animal models of muscular dystrophies (deficient for calpain 3, dysferlin, alpha-sarcoglycan and dystrophin, respectively)...
- Expression screening of a yeast artificial chromosome contig refines the location of the mouse H3a minor histocompatibility antigen geneA R Zuberi
The Jackson Laboratory, Bar Harbor, ME 04609, USA
J Immunol 161:821-8. 1998..The data position H3a between Tyro3 and Epb4.2, in close proximity to Capn3. These studies illustrate how genetic and genomic information can be exploited toward identifying genes encoding ..
- Calpain 3 participates in sarcomere remodeling by acting upstream of the ubiquitin-proteasome pathwayIrina Kramerova
Department of Neurology and Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095 7334, USA
Hum Mol Genet 14:2125-34. 2005Mutations in the non-lysosomal cysteine protease calpain 3 cause limb-girdle muscular dystrophy type 2A (LGMD2A)...
- THERAPEUTIC APPROACHES FOR MUSCULAR DYSTROPHYMelissa Spencer; Fiscal Year: 2006..Collectively, these findings can provide the basis for design of immune interventions to reduce the pathology of dystrophin deficient muscle. ..
- FASEB Summer Conference on: The Biology of Calpains in Health and DiseaseMelissa Spencer; Fiscal Year: 2007..The proposed program will provide the forum by which the momentum in this field may be maintained. [unreadable] [unreadable] [unreadable] [unreadable]..
- Dissection of Muscle Weight QTL Via Congenic StrainsArimantas Lionikas; Fiscal Year: 2008..3) Using a bioinformatics approach, search for candidate genes within the region of Chr 9 defined by congenic strain analysis with the potential to influence muscle weight. [unreadable] [unreadable] [unreadable]..