CAPN3

CAPN3

Identifiers Symbols CAPN3; CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94 External IDs OMIM: 114240 MGI: 107437 HomoloGene: 52 GeneCards: CAPN3 Gene EC number 3.4.22.54

Gene Ontology
Molecular function	• catalytic activity • calcium-dependent cysteine-type endopeptidase activity • signal transducer activity • calcium ion binding • peptidase activity • cysteine-type peptidase activity • structural constituent of muscle • sodium ion binding • titin binding • protein complex scaffold • ligase regulator activity
Cellular component	• intracellular • nucleus • cytoplasm • cytosol • plasma membrane • myofibril • Z disc • T-tubule • protein complex
Biological process	• autolysis • protein complex assembly • proteolysis • apoptotic process • signal transduction • muscle organ development • positive regulation of satellite cell activation involved in skeletal muscle regeneration • response to muscle activity • myofibril assembly • negative regulation of protein sumoylation • response to drug • negative regulation of apoptotic process • regulation of I-kappaB kinase/NF-kappaB cascade • sarcomere organization • regulation of myoblast differentiation • positive regulation of proteolysis • negative regulation of transcription, DNA-dependent • positive regulation of transcription, DNA-dependent • muscle cell homeostasis • regulation of catalytic activity • positive regulation of NF-kappaB transcription factor activity • positive regulation of release of sequestered calcium ion into cytosol • response to calcium ion • muscle structure development • G1 to G0 transition involved in cell differentiation • cellular response to calcium ion • cellular response to salt stress • protein localization to membrane • self proteolysis
Sources: Amigo / QuickGO

RNA expression pattern More reference expression data Orthologs Species Human Mouse Entrez 825 12335 Ensembl ENSG00000092529 ENSMUSG00000079110 UniProt P20807 Q64691 RefSeq (mRNA) NM_000070 NM_001109761 RefSeq (protein) NP_000061 NP_001103231 Location (UCSC) Chr 15:
42.64 – 42.7 Mb Chr 2:
120.46 – 120.5 Mb PubMed search

Calpain-3 is a protein that in humans is encoded by the CAPN3 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.

In melanocytic cells CAPN3 gene expression may be regulated by MITF.