CAPN3

From Wikipedia, the free encyclopedia

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

Human

Mouse

n/a

n/a

Refseq

NM_000070 (mRNA)
NP_000061 (protein)

NM_007601 (mRNA)
NP_031627 (protein)

Location

n/a

Chr 2: 120.1 - 120.2 Mb

Pubmed search

[1]

[2]

Calpain 3, (p94), also known as CAPN3, is a human gene.

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.^[1]

[edit] References

^ Entrez Gene: CAPN3 calpain 3, (p94).

[edit] Further reading

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. 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. PMID 2209092.
Sorimachi H, Imajoh-Ohmi S, Emori Y, et al. (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, et al. (1995). "Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A.". Cell 81 (1): 27–40. PMID 7720071.
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. 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. 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. 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. 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. PMID 9762961.