CaMPDB :: Calpain

CL0842 : calpain 3 isoform a

* Basic Information

Organism	Homo sapiens (human)
Protein Names	calpain; large polypeptide L3; calpain p94; large [catalytic] subunit; muscle-specific calcium-activated neutral protease 3 large subunit; calpain 3 isoform a [Homo sapiens]; Calpain-3; 3.4.22.54; Calpain L3; Calpain p94; Calcium-activated neutral proteinase 3; CANP 3; Muscle-specific calcium-activated neutral protease 3; New calpain 1; nCL-1
Gene Names	CAPN3; CANP3, CANPL3, NCL1; CANP3; CANPL3; NCL1; calpain 3, (p94)
Gene Locus	15q15.1-q21.1; chromosome 15
GO Function	Not available

Entrez Protein	Entrez Nucleotide	Entrez Gene	UniProt	OMIM	HGNC	HPRD	KEGG
NP_000061	NM_000070	825	P20807	114240	1480	N/A	hsa:825

* Information From OMIM

Description: The CAPN3 gene encodes calpain-3. The calpains, or calcium-activated neutral proteases (EC 3.4.22.17), are nonlysosomal intracellular cysteine proteases. Mammalian calpains are heterodimers composed of a ubiquitous 80-kD large subunit (e.g., CAPN1, OMIM:114220 and CAPN2, OMIM:114230) and a common small 30-kD subunit (CAPNS1; OMIM:114170). CAPN3 is a muscle-specific large subunit (Sorimachi et al., 1989).

* Structure Information

1. Primary Information

Length: 821 aa

Average Mass: 94.254 kDa

Monoisotopic Mass: 94.194 kDa

2. Domain Information

Annotated Domains: interpro / pfam / smart / prosite

Computationally Assigned Domains (Pfam+HMMER):

domain name	begin	end	score	e-value
Peptidase_C2 1.	74	417	942.2	2.4e-280
Calpain_III 1.	428	582	367.3	2.8e-107
Osmo_CC 1.	643	688	2.9	6
efhand 1.	696	724	27.9	4e-05
efhand 2.	726	754	26.7	9.3e-05
efhand 3.	791	818	9.1	2.2

3. Sequence Information

Fasta Sequence: CL0842.fasta

Amino Acid Sequence and Secondary Structures (PsiPred):

4. 3D Information

Known Structures in PDB: 1Y9V (Model; -; A/B=649-821)

* References

[PubMed ID: 19048948] Shirafuji T, Otsuka Y, Kobessho H, Minami N, Hayashi Y, Nishino I, Kanda F, [Case of LGMD2A (calpainopathy) clinically presenting as Miyoshi distal myopathy] Rinsho Shinkeigaku. 2008 Sep;48(9):651-5.

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[PubMed ID: 18337726] ... Duno M, Sveen ML, Schwartz M, Vissing J, cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark. Eur J Hum Genet. 2008 Aug;16(8):935-40. Epub 2008 Mar 12.

[PubMed ID: 18334579] ... Huang Y, de Morree A, van Remoortere A, Bushby K, Frants RR, Dunnen JT, van der Maarel SM, Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle. Hum Mol Genet. 2008 Jun 15;17(12):1855-66. Epub 2008 Mar 11.

[PubMed ID: 18310072] ... Hayashi C, Ono Y, Doi N, Kitamura F, Tagami M, Mineki R, Arai T, Taguchi H, Yanagida M, Hirner S, Labeit D, Labeit S, Sorimachi H, Multiple molecular interactions implicate the connectin/titin N2A region as a modulating scaffold for p94/calpain 3 activity in skeletal muscle. J Biol Chem. 2008 May 23;283(21):14801-14. Epub 2008 Feb 29.

[PubMed ID: 18299526] ... Amato AA, Adults with eosinophilic myositis and calpain-3 mutations. Neurology. 2008 Feb 26;70(9):730-1.

[PubMed ID: 15073171] ... Diaz BG, Moldoveanu T, Kuiper MJ, Campbell RL, Davies PL, Insertion sequence 1 of muscle-specific calpain, p94, acts as an internal propeptide. J Biol Chem. 2004 Jun 25;279(26):27656-66. Epub 2004 Apr 8.

[PubMed ID: 8624690] ... Fardeau M, Hillaire D, Mignard C, Feingold N, Feingold J, Mignard D, de Ubeda B, Collin H, Tome FM, Richard I, Beckmann J, Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island. Brain. 1996 Feb;119 ( Pt 1):295-308.

[PubMed ID: 8537379] ... Sorimachi H, Kinbara K, Kimura S, Takahashi M, Ishiura S, Sasagawa N, Sorimachi N, Shimada H, Tagawa K, Maruyama K, et al., Muscle-specific calpain, p94, responsible for limb girdle muscular dystrophy type 2A, associates with connectin through IS2, a p94-specific sequence. J Biol Chem. 1995 Dec 29;270(52):31158-62.

[PubMed ID: 7720071] ... Richard I, Broux O, Allamand V, Fougerousse F, Chiannilkulchai N, Bourg N, Brenguier L, Devaud C, Pasturaud P, Roudaut C, et al., Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. Cell. 1995 Apr 7;81(1):27-40.

[PubMed ID: 2209092] ... Ohno S, Minoshima S, Kudoh J, Fukuyama R, Shimizu Y, Ohmi-Imajoh S, Shimizu N, Suzuki K, Four genes for the calpain family locate on four distinct human chromosomes. Cytogenet Cell Genet. 1990;53(4):225-9.

[PubMed ID: 2555341] ... Sorimachi H, Imajoh-Ohmi S, Emori Y, Kawasaki H, Ohno S, Minami Y, Suzuki K, 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. 1989 Nov 25;264(33):20106-11.