CAPN3: Information from Answers.com

Calpain 3, (p94)

Identifiers

CAPN3; CANP3; CANPL3; LGMD2; LGMD2A; MGC10767; MGC11121; MGC14344; MGC4403; nCL-1; p94

External IDs

Gene ontology
Molecular function	• calpain activity • signal transducer activity • calcium ion binding
Cellular component	• intracellular
Biological process	• proteolysis • muscle development

RNA expression pattern

More reference expression data

Orthologs

Species

Human

Mouse

n/a

n/a

RefSeq

NM_000070 (mRNA)

NM_007601 (mRNA)

NP_000061 (protein)

NP_031627 (protein)

Location

n/a

Chr 2:
120.1 - 120.2 Mb

PubMed search

[1]

[2]

Calpain-3 is a protein that in humans is encoded by the CAPN3 gene.^[1]^[2]

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].

Interactions

CAPN3 has been shown to interact with Titin.^[5]^[6]

References

^ Sorimachi H, Imajoh-Ohmi S, Emori Y, Kawasaki H, Ohno S, Minami Y, Suzuki K (Dec 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. PMID 2555341.
^ Richard I, Broux O, Allamand V, Fougerousse F, Chiannilkulchai N, Bourg N, Brenguier L, Devaud C, Pasturaud P, Roudaut C, et al. (May 1995). "Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A". Cell 81 (1): 27-40. PMID 7720071.
^ "Entrez Gene: CAPN3 calpain 3, (p94)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=825.
^ Hoek KS, Schlegel NC, Eichhoff OM, et al. (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 T C, Beckmann J S, Ishiura S, Suzuki K (Jul. 1998). "Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A". J. Biol. Chem. (UNITED STATES) 273 (27): 17073-8. ISSN 0021-9258. PMID 9642272.
^ Sorimachi, H; Kinbara K, Kimura S, Takahashi M, Ishiura S, Sasagawa N, Sorimachi N, Shimada H, Tagawa K, Maruyama K (Dec. 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. (UNITED STATES) 270 (52): 31158-62. ISSN 0021-9258. PMID 8537379.

Sorimachi H, Ishiura S, Suzuki K (1998). "Structure and physiological function of calpains.". Biochem. J. 328 ( Pt 3): 721–32. 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. 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. 481: 383–95; discussion 395–7. PMID 10987085.
Baghdiguian S, Richard I, Martin M, et al. (2002). "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.
Canki-Klain N, Milic A, Kovac B, et al. (2004). "Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia.". Am. J. Med. Genet. A 125 (2): 152–6. doi:10.1002/ajmg.a.20408. PMID 14981715.
Kramerova I, Beckmann JS, Spencer MJ (2007). "Molecular and cellular basis of calpainopathy (limb girdle muscular dystrophy type 2A).". Biochim. Biophys. Acta 1772 (2): 128–44. doi:10.1016/j.bbadis.2006.07.002. PMID 16934440.
Ohno S, Minoshima S, Kudoh J, et al. (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, et al. (1996). "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, et al. (1996). "Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island.". Brain 119 ( Pt 1): 295–308. PMID 8624690.
Corasaniti MT, Navarra M, Catani MV, et al. (1997). "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, et al. (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. 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, et al. (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. PMID 9246005.
Dinçer P, Leturcq F, Richard I, et al. (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.
Ono Y, Shimada H, Sorimachi H, et al. (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, et al. (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.
Urtasun M, Sáenz A, Roudaut C, et al. (1998). "Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain).". Brain 121 ( Pt 9): 1735–47. doi:10.1093/brain/121.9.1735. PMID 9762961.
Huang Y, de Morrée A, van der Maarel SM, et al. (2008). "Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle.". Human molecular genetics 17 (12): 1855. doi:10.1093/hmg/ddn081. PMID 18334579.

v • d • e Proteases: cysteine proteases (EC 3.4.22)

Caspase	Caspase 1 · Caspase 2 · Caspase 3 · Caspase 4 · Caspase 5 · Caspase 6 · Caspase 7 · Caspase 8 · Caspase 9 · Caspase 10 · Caspase 12 · Caspase 13 · Caspase 14

Fruit-derived	Papain · Ficain · Bromelain · Actinidain

Calpain	CAPN1 · CAPN2 · CAPN3 · CAPN5 · CAPN6 · CAPN7 · CAPN8 · CAPN9 · CAPN10 · CAPN11 · CAPN12 · CAPN13 · CAPN14 · CAPNS1 · CAPNS2

Cathepsin	B · C · F · H · K · L1/L2 · O · S · W · Z

Other	Clostripain · Cancer procoagulant · Separase · Autophagin · Cruzipain

This protein-related article is a stub. You can help Wikipedia by expanding it.

This entry is from Wikipedia, the leading user-contributed encyclopedia. It may not have been reviewed by professional editors (see full disclaimer)

Donate to Wikimedia

CAPN3

Interactions

References

Further reading