calpain-3 catalytic subunit (calpain-p94 catalytic [large] subunit, calpain large polypeptide L3, CAPN3, CANP3, CANPL3, NCL1)

Function

• Ca+2-regulated non-lysosomal thiol-protease
• interacts with TTN/titin
• activated by micromolar concentrations of Ca+2
• inhibited by calpastatin
• broad endopeptidase activity

Structure

• belongs to the peptidase C2 family
• contains 1 calpain catalytic domain
• contains 4 EF-hand domains

Compartment

cytoplasm

Alternative splicing

named isoforms=4

Expression

isoform 1 is skeletal muscle specific

Pathology

• defects in CAPN3 are associated with limb-girdle muscular dystrophy type 2A

More general terms

• calpain catalytic or large subunit

Database

• UniProt: http://www.uniprot.org/uniprot/P20807.html
• OMIM: https://mirror.omim.org/entry/114240
• OMIM: https://mirror.omim.org/entry/253600
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=825