Calpain, a heterodimer consisting of a large and a small subunit, is a major intracellular protease, although its function has not been well established. This gene encodes a muscle-specific member of the calpain large subunit family that specifically binds to titin. Mutations in this gene are associated with limb-girdle muscular dystrophies type 2A. Alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms and some variants are ubiquitously expressed.[3]
In melanocytic cells CAPN3 gene expression may be regulated by MITF.[4]
^Sorimachi H, Imajoh-Ohmi S, Emori Y, Kawasaki H, Ohno S, Minami Y, Suzuki K (December 1989). "Molecular cloning of a novel mammalian calcium-dependent protease distinct from both m- and mu-types. Specific expression of the mRNA in skeletal muscle". J. Biol. Chem. 264 (33): 20106–11. doi:10.1016/S0021-9258(19)47225-6. PMID 2555341.
^Richard I, Broux O, Allamand V, Fougerousse F, Chiannilkulchai N, Bourg N, Brenguier L, Devaud C, Pasturaud P, Roudaut C (May 1995). "Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A". Cell. 81 (1): 27–40. doi:10.1016/0092-8674(95)90368-2. PMID 7720071.
^Hoek KS, Schlegel NC, Eichhoff OM, Widmer DS, Praetorius C, Einarsson SO, Valgeirsdottir S, Bergsteinsdottir K, Schepsky A, Dummer R, Steingrimsson E (2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res. 21 (6): 665–76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971.
^Ono Y, Shimada H, Sorimachi H, Richard I, Saido TC, Beckmann JS, Ishiura S, Suzuki K (July 1998). "Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A". J. Biol. Chem. 273 (27): 17073–8. doi:10.1074/jbc.273.27.17073. PMID 9642272.
^Sorimachi H, Kinbara K, Kimura S, Takahashi M, Ishiura S, Sasagawa N, Sorimachi N, Shimada H, Tagawa K, Maruyama K (December 1995). "Muscle-specific calpain, p94, responsible for limb girdle muscular dystrophy type 2A, associates with connectin through IS2, a p94-specific sequence". J. Biol. Chem. 270 (52): 31158–62. doi:10.1074/jbc.270.52.31158. PMID 8537379.
Further readingedit
Sorimachi H, Ishiura S, Suzuki K (1997). "Structure and physiological function of calpains". Biochem. J. 328 (3): 721–32. doi:10.1042/bj3280721. PMC1218978. PMID 9396712.
Sorimachi H, Ono Y, Suzuki K (2000). "Skeletal muscle-specific calpain, p94, and connectin/titin: their physiological functions and relationship to limb-girdle muscular dystrophy type 2A". Adv. Exp. Med. Biol. Advances in Experimental Medicine and Biology. 481: 383–95, discussion 395-7. doi:10.1007/978-1-4615-4267-4_23. ISBN978-1-4613-6916-5. PMID 10987085.
Baghdiguian S, Richard I, Martin M, Coopman P, Beckmann JS, Mangeat P, Lefranc G (2001). "Pathophysiology of limb girdle muscular dystrophy type 2A: hypothesis and new insights into the IkappaBalpha/NF-kappaB survival pathway in skeletal muscle". J. Mol. Med. 79 (5–6): 254–61. doi:10.1007/s001090100225. PMID 11485017. S2CID 286784.
Canki-Klain N, Milic A, Kovac B, Trlaja A, Grgicevic D, Zurak N, Fardeau M, Leturcq F, Kaplan JC, Urtizberea JA, Politano L, Piluso G, Feingold J (2004). "Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia". Am. J. Med. Genet. A. 125A (2): 152–6. doi:10.1002/ajmg.a.20408. PMID 14981715. S2CID 21946737.
Kramerova I, Beckmann JS, Spencer MJ (2007). "Molecular and cellular basis of calpainopathy (limb girdle muscular dystrophy type 2A)" (PDF). Biochim. Biophys. Acta. 1772 (2): 128–44. doi:10.1016/j.bbadis.2006.07.002. PMID 16934440. S2CID 35100606.
Ohno S, Minoshima S, Kudoh J, Fukuyama R, Shimizu Y, Ohmi-Imajoh S, Shimizu N, Suzuki K (1990). "Four genes for the calpain family locate on four distinct human chromosomes". Cytogenet. Cell Genet. 53 (4): 225–9. doi:10.1159/000132937. PMID 2209092.
Sorimachi H, Kinbara K, Kimura S, Takahashi M, Ishiura S, Sasagawa N, Sorimachi N, Shimada H, Tagawa K, Maruyama K (1995). "Muscle-specific calpain, p94, responsible for limb girdle muscular dystrophy type 2A, associates with connectin through IS2, a p94-specific sequence". J. Biol. Chem. 270 (52): 31158–62. doi:10.1074/jbc.270.52.31158. PMID 8537379.
Fardeau M, Hillaire D, Mignard C, Feingold N, Feingold J, Mignard D, de Ubeda B, Collin H, Tome FM, Richard I, Beckmann J (1996). "Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island". Brain. 119 (1): 295–308. doi:10.1093/brain/119.1.295. PMID 8624690.
Corasaniti MT, Navarra M, Catani MV, Melino G, Nisticò G, Finazzi-Agrò A (1996). "NMDA and HIV-1 coat protein, GP120, produce necrotic but not apoptotic cell death in human CHP100 neuroblastoma cultures via a mechanism involving calpain". Biochem. Biophys. Res. Commun. 229 (1): 299–304. doi:10.1006/bbrc.1996.1796. PMID 8954122.
Richard I, Brenguier L, Dinçer P, Roudaut C, Bady B, Burgunder JM, Chemaly R, Garcia CA, Halaby G, Jackson CE, Kurnit DM, Lefranc G, Legum C, Loiselet J, Merlini L, Nivelon-Chevallier A, Ollagnon-Roman E, Restagno G, Topaloglu H, Beckmann JS (1997). "Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins". Am. J. Hum. Genet. 60 (5): 1128–38. PMC1712426. PMID 9150160.
Kinbara K, Sorimachi H, Ishiura S, Suzuki K (1997). "Muscle-specific calpain, p94, interacts with the extreme C-terminal region of connectin, a unique region flanked by two immunoglobulin C2 motifs". Arch. Biochem. Biophys. 342 (1): 99–107. doi:10.1006/abbi.1997.0108. PMID 9185618.
Pratt VM, Jackson CE, Wallace DC, Gurley DS, Feit A, Feldman GL (1997). "DNA studies of limb-girdle muscular dystrophy type 2A in the Amish exclude a modifying mitochondrial gene and show no evidence for a modifying nuclear gene". Am. J. Hum. Genet. 61 (1): 231–3. doi:10.1016/S0002-9297(07)64296-7. PMC1715865. PMID 9246005.
Dinçer P, Leturcq F, Richard I, Piccolo F, Yalnizoglu D, de Toma C, Akçören Z, Broux O, Deburgrave N, Brenguier L, Roudaut C, Urtizberea JA, Jung D, Tan E, Jeanpierre M, Campbell KP, Kaplan JC, Beckmann JS, Topaloglu H (1997). "A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey". Ann. Neurol. 42 (2): 222–9. doi:10.1002/ana.410420214. PMID 9266733. S2CID 28524591.
Ono Y, Shimada H, Sorimachi H, Richard I, Saido TC, Beckmann JS, Ishiura S, Suzuki K (1998). "Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A". J. Biol. Chem. 273 (27): 17073–8. doi:10.1074/jbc.273.27.17073. PMID 9642272.
Pénisson-Besnier I, Richard I, Dubas F, Beckmann JS, Fardeau M (1998). "Pseudometabolic expression and phenotypic variability of calpain deficiency in two siblings". Muscle Nerve. 21 (8): 1078–80. doi:10.1002/(SICI)1097-4598(199808)21:8<1078::AID-MUS15>3.0.CO;2-Q. PMID 9655129. S2CID 26307931.
Urtasun M, Sáenz A, Roudaut C, Poza JJ, Urtizberea JA, Cobo AM, Richard I, García Bragado F, Leturcq F, Kaplan JC, Martí Massó JF, Beckmann JS, López de Munain A (1998). "Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain)". Brain. 121 (9): 1735–47. doi:10.1093/brain/121.9.1735. PMID 9762961.
Huang Y, de Morrée A, van Remoortere A, Bushby K, Frants RR, den Dunnen JT, van der Maarel SM (2008). "Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle". Hum. Mol. Genet. 17 (12): 1855–66. doi:10.1093/hmg/ddn081. PMC2900895. PMID 18334579.
External linksedit
The MEROPS online database for peptidases and their inhibitors: C02.004
Human CAPN3 genome location and CAPN3 gene details page in the UCSC Genome Browser.
April 11, 2024
calpain, protein, that, humans, encoded, capn3, gene, identifiersaliasesexternal, idsgenecards, orthologsspecieshumanmouseentrezn, aensembln, auniprotnan, arefseq, mrna, arefseq, protein, alocation, ucsc, apubmed, searchn, awikidataview, edit, human, contents,. Calpain 3 is a protein that in humans is encoded by the CAPN3 gene 1 2 Calpain 3IdentifiersAliasesExternal IDsGeneCards 1 OrthologsSpeciesHumanMouseEntrezn an aEnsembln an aUniProtnan aRefSeq mRNA n an aRefSeq protein n an aLocation UCSC n an aPubMed searchn an aWikidataView Edit Human Contents 1 Function 2 Interactions 3 References 4 Further reading 5 External linksFunction editCalpain a heterodimer consisting of a large and a small subunit is a major intracellular protease although its function has not been well established This gene encodes a muscle specific member of the calpain large subunit family that specifically binds to titin Mutations in this gene are associated with limb girdle muscular dystrophies type 2A Alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms and some variants are ubiquitously expressed 3 In melanocytic cells CAPN3 gene expression may be regulated by MITF 4 Interactions editCAPN3 has been shown to interact with Titin 5 6 References edit Sorimachi H Imajoh Ohmi S Emori Y Kawasaki H Ohno S Minami Y Suzuki K December 1989 Molecular cloning of a novel mammalian calcium dependent protease distinct from both m and mu types Specific expression of the mRNA in skeletal muscle J Biol Chem 264 33 20106 11 doi 10 1016 S0021 9258 19 47225 6 PMID 2555341 Richard I Broux O Allamand V Fougerousse F Chiannilkulchai N Bourg N Brenguier L Devaud C Pasturaud P Roudaut C May 1995 Mutations in the proteolytic enzyme calpain 3 cause limb girdle muscular dystrophy type 2A Cell 81 1 27 40 doi 10 1016 0092 8674 95 90368 2 PMID 7720071 Entrez Gene CAPN3 calpain 3 p94 Hoek KS Schlegel NC Eichhoff OM Widmer DS Praetorius C Einarsson SO Valgeirsdottir S Bergsteinsdottir K Schepsky A Dummer R Steingrimsson E 2008 Novel MITF targets identified using a two step DNA microarray strategy Pigment Cell Melanoma Res 21 6 665 76 doi 10 1111 j 1755 148X 2008 00505 x PMID 19067971 Ono Y Shimada H Sorimachi H Richard I Saido TC Beckmann JS Ishiura S Suzuki K July 1998 Functional defects of a muscle specific calpain p94 caused by mutations associated with limb girdle muscular dystrophy type 2A J Biol Chem 273 27 17073 8 doi 10 1074 jbc 273 27 17073 PMID 9642272 Sorimachi H Kinbara K Kimura S Takahashi M Ishiura S Sasagawa N Sorimachi N Shimada H Tagawa K Maruyama K December 1995 Muscle specific calpain p94 responsible for limb girdle muscular dystrophy type 2A associates with connectin through IS2 a p94 specific sequence J Biol Chem 270 52 31158 62 doi 10 1074 jbc 270 52 31158 PMID 8537379 Further reading editSorimachi H Ishiura S Suzuki K 1997 Structure and physiological function of calpains Biochem J 328 3 721 32 doi 10 1042 bj3280721 PMC 1218978 PMID 9396712 Kinbara K Sorimachi H Ishiura S Suzuki K 1998 Skeletal muscle specific calpain p49 structure and physiological function Biochem Pharmacol 56 4 415 20 doi 10 1016 S0006 2952 98 00095 1 PMID 9763216 Sorimachi H Ono Y Suzuki K 2000 Skeletal muscle specific calpain p94 and connectin titin their physiological functions and relationship to limb girdle muscular dystrophy type 2A Adv Exp Med Biol Advances in Experimental Medicine and Biology 481 383 95 discussion 395 7 doi 10 1007 978 1 4615 4267 4 23 ISBN 978 1 4613 6916 5 PMID 10987085 Baghdiguian S Richard I Martin M Coopman P Beckmann JS Mangeat P Lefranc G 2001 Pathophysiology of limb girdle muscular dystrophy type 2A hypothesis and new insights into the IkappaBalpha NF kappaB survival pathway in skeletal muscle J Mol Med 79 5 6 254 61 doi 10 1007 s001090100225 PMID 11485017 S2CID 286784 Canki Klain N Milic A Kovac B Trlaja A Grgicevic D Zurak N Fardeau M Leturcq F Kaplan JC Urtizberea JA Politano L Piluso G Feingold J 2004 Prevalence of the 550delA mutation in calpainopathy LGMD 2A in Croatia Am J Med Genet A 125A 2 152 6 doi 10 1002 ajmg a 20408 PMID 14981715 S2CID 21946737 Kramerova I Beckmann JS Spencer MJ 2007 Molecular and cellular basis of calpainopathy limb girdle muscular dystrophy type 2A PDF Biochim Biophys Acta 1772 2 128 44 doi 10 1016 j bbadis 2006 07 002 PMID 16934440 S2CID 35100606 Ohno S Minoshima S Kudoh J Fukuyama R Shimizu Y Ohmi Imajoh S Shimizu N Suzuki K 1990 Four genes for the calpain family locate on four distinct human chromosomes Cytogenet Cell Genet 53 4 225 9 doi 10 1159 000132937 PMID 2209092 Sorimachi H Kinbara K Kimura S Takahashi M Ishiura S Sasagawa N Sorimachi N Shimada H Tagawa K Maruyama K 1995 Muscle specific calpain p94 responsible for limb girdle muscular dystrophy type 2A associates with connectin through IS2 a p94 specific sequence J Biol Chem 270 52 31158 62 doi 10 1074 jbc 270 52 31158 PMID 8537379 Fardeau M Hillaire D Mignard C Feingold N Feingold J Mignard D de Ubeda B Collin H Tome FM Richard I Beckmann J 1996 Juvenile limb girdle muscular dystrophy Clinical histopathological and genetic data from a small community living in the Reunion Island Brain 119 1 295 308 doi 10 1093 brain 119 1 295 PMID 8624690 Corasaniti MT Navarra M Catani MV Melino G Nistico G Finazzi Agro A 1996 NMDA and HIV 1 coat protein GP120 produce necrotic but not apoptotic cell death in human CHP100 neuroblastoma cultures via a mechanism involving calpain Biochem Biophys Res Commun 229 1 299 304 doi 10 1006 bbrc 1996 1796 PMID 8954122 Richard I Brenguier L Dincer P Roudaut C Bady B Burgunder JM Chemaly R Garcia CA Halaby G Jackson CE Kurnit DM Lefranc G Legum C Loiselet J Merlini L Nivelon Chevallier A Ollagnon Roman E Restagno G Topaloglu H Beckmann JS 1997 Multiple independent molecular etiology for limb girdle muscular dystrophy type 2A patients from various geographical origins Am J Hum Genet 60 5 1128 38 PMC 1712426 PMID 9150160 Kinbara K Sorimachi H Ishiura S Suzuki K 1997 Muscle specific calpain p94 interacts with the extreme C terminal region of connectin a unique region flanked by two immunoglobulin C2 motifs Arch Biochem Biophys 342 1 99 107 doi 10 1006 abbi 1997 0108 PMID 9185618 Pratt VM Jackson CE Wallace DC Gurley DS Feit A Feldman GL 1997 DNA studies of limb girdle muscular dystrophy type 2A in the Amish exclude a modifying mitochondrial gene and show no evidence for a modifying nuclear gene Am J Hum Genet 61 1 231 3 doi 10 1016 S0002 9297 07 64296 7 PMC 1715865 PMID 9246005 Dincer P Leturcq F Richard I Piccolo F Yalnizoglu D de Toma C Akcoren Z Broux O Deburgrave N Brenguier L Roudaut C Urtizberea JA Jung D Tan E Jeanpierre M Campbell KP Kaplan JC Beckmann JS Topaloglu H 1997 A biochemical genetic and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey Ann Neurol 42 2 222 9 doi 10 1002 ana 410420214 PMID 9266733 S2CID 28524591 Ono Y Shimada H Sorimachi H Richard I Saido TC Beckmann JS Ishiura S Suzuki K 1998 Functional defects of a muscle specific calpain p94 caused by mutations associated with limb girdle muscular dystrophy type 2A J Biol Chem 273 27 17073 8 doi 10 1074 jbc 273 27 17073 PMID 9642272 Penisson Besnier I Richard I Dubas F Beckmann JS Fardeau M 1998 Pseudometabolic expression and phenotypic variability of calpain deficiency in two siblings Muscle Nerve 21 8 1078 80 doi 10 1002 SICI 1097 4598 199808 21 8 lt 1078 AID MUS15 gt 3 0 CO 2 Q PMID 9655129 S2CID 26307931 Urtasun M Saenz A Roudaut C Poza JJ Urtizberea JA Cobo AM Richard I Garcia Bragado F Leturcq F Kaplan JC Marti Masso JF Beckmann JS Lopez de Munain A 1998 Limb girdle muscular dystrophy in Guipuzcoa Basque Country Spain Brain 121 9 1735 47 doi 10 1093 brain 121 9 1735 PMID 9762961 Huang Y de Morree A van Remoortere A Bushby K Frants RR den Dunnen JT van der Maarel SM 2008 Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle Hum Mol Genet 17 12 1855 66 doi 10 1093 hmg ddn081 PMC 2900895 PMID 18334579 External links editThe MEROPS online database for peptidases and their inhibitors C02 004 GeneReviews NCBI NIH UW entry on Calpainopathy LOVD mutation database CAPN3 Human CAPN3 genome location and CAPN3 gene details page in the UCSC Genome Browser Retrieved from https en wikipedia org w index php title Calpain 3 amp oldid 1116143386, wikipedia, wiki, book, books, library,
