NP_000061.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
18,246 Da
NCBI Official Full Name
calpain-3 isoform a
NCBI Official Synonym Full Names
calpain 3
NCBI Official Synonym Symbols
p94; CANP3; LGMD2; nCL-1; CANPL3; LGMD2A [Similar Products]
NCBI Protein Information
calpain-3
UniProt Protein Name
Calpain-3
UniProt Synonym Protein Names
Calcium-activated neutral proteinase 3; CANP 3; Calpain L3; Calpain p94; Muscle-specific calcium-activated neutral protease 3; New calpain 1; nCL-1
UniProt Synonym Gene Names
UniProt Entry Name
CAN3_HUMAN
NCBI Summary for CAPN3
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. [provided by RefSeq, Jul 2008]
UniProt Comments for CAPN3
CAPN3: Calcium-regulated non-lysosomal thiol-protease. Defects in CAPN3 are the cause of limb-girdle muscular dystrophy type 2A (LGMD2A). LGMD2A is an autosomal recessive degenerative myopathy characterized by progressive symmetrical atrophy and weakness of the proximal limb muscles and elevated serum creatine kinase. The symptoms usually begin during the first two decades of life, and the disease gradually worsens, often resulting in loss of walking ability 10 or 20 years after onset. Belongs to the peptidase C2 family. 5 isoforms of the human protein are produced by alternative splicing.
Protein type: Motility/polarity/chemotaxis; Calcium-binding; EC 3.4.22.54; Cell development/differentiation; Protease
Chromosomal Location of Human Ortholog: 15q15.1
Cellular Component: protein complex; myofibril; cytoplasm; T-tubule; plasma membrane; intracellular; nucleus; cytosol; Z disc
Molecular Function: peptidase activity; sodium ion binding; protein binding; signal transducer activity; structural constituent of muscle; titin binding; calcium-dependent cysteine-type endopeptidase activity; protein complex scaffold; calcium ion binding; catalytic activity; ligase regulator activity; cysteine-type peptidase activity
Biological Process: response to muscle activity; muscle development; apoptosis; positive regulation of proteolysis; positive regulation of transcription, DNA-dependent; positive regulation of satellite cell activation involved in skeletal muscle regeneration; sarcomere organization; proteolysis; signal transduction; negative regulation of protein sumoylation; activation of NF-kappaB transcription factor; muscle maintenance; autolysis; myofibril assembly; regulation of catalytic activity; regulation of myoblast differentiation; protein complex assembly; positive regulation of release of sequestered calcium ion into cytosol; negative regulation of transcription, DNA-dependent; response to calcium ion; regulation of I-kappaB kinase/NF-kappaB cascade; negative regulation of apoptosis
Disease: Muscular Dystrophy, Limb-girdle, Type 2a
Research Articles on CAPN3
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Products associated with anti-CAPN3 antibody
Pathways associated with anti-CAPN3 antibody
Diseases associated with anti-CAPN3 antibody
Organs/Tissues associated with anti-CAPN3 antibody
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