Family

Calpain-3 (IPR029531)

Short name: CAPN3

Family relationships

Description

Calpain-3 (CAPN3) belongs to the calpain family, which consists of a group of Ca2+ dependent cysteine proteases that regulate functions of substrates by proteolysis [PMID: 12843408, PMID: 24085852]. Calpain-3 is a calcium-dependent cysteine protease mainly expressed in skeletal muscle. It is involved in sarcomere maintenance and remodelling [PMID: 16884488]. It interacts with myospryn, which is a muscle-specific protein that functions in vesicular trafficking and protein kinase A signalling [PMID: 20634290].

Mutations of the calpain-3 gene cause limb-girdle muscular dystrophy 2A (LGMD2A), an autosomal recessive degenerative myopathy characterised by progressive symmetrical atrophy and weakness of the proximal limb muscles and elevated serum creatine kinase [PMID: 7720071, PMID: 9771675].

GO terms

Biological Process

GO:0006508 proteolysis
GO:0045214 sarcomere organization

Molecular Function

GO:0004198 calcium-dependent cysteine-type endopeptidase activity

Cellular Component

No terms assigned in this category.

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
PANTHER