CAPN3

CAPN3
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4OKH
Identifiers
Aliases	CAPN3, CANP3, CANPL3, LGMD2, LGMD2A, nCL-1, p94, calpain 3
External IDs	MGI: 107437 HomoloGene: 52 GeneCards: CAPN3
Gene ontology Molecular function • calcium ion binding • cysteine-type peptidase activity • sodium ion binding • titin binding • signal transducer activity • metal ion binding • calcium-dependent cysteine-type endopeptidase activity • peptidase activity • catalytic activity • protein binding • protein complex scaffold • structural constituent of muscle • hydrolase activity • ligase regulator activity Cellular component • cytoplasm • cytosol • T-tubule • plasma membrane • intracellular • protein complex • myofibril • Z disc • nucleus Biological process • muscle structure development • cellular response to calcium ion • protein localization to membrane • negative regulation of protein sumoylation • positive regulation of satellite cell activation involved in skeletal muscle regeneration • muscle cell cellular homeostasis • protein complex assembly • muscle organ development • self proteolysis • negative regulation of apoptotic process • positive regulation of release of sequestered calcium ion into cytosol • proteolysis • positive regulation of transcription, DNA-templated • response to calcium ion • negative regulation of skeletal muscle cell differentiation • G1 to G0 transition involved in cell differentiation • cellular response to salt stress • myofibril assembly • regulation of myoblast differentiation • positive regulation of NF-kappaB transcription factor activity • positive regulation of proteolysis • regulation of catalytic activity • negative regulation of transcription, DNA-templated • sarcomere organization • response to muscle activity • regulation of I-kappaB kinase/NF-kappaB signaling • apoptotic process • signal transduction • programmed cell death 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_024344 NM_173087 NM_173088 NM_173089 NM_173090 NM_212465	NM_001109761 NM_001177799 NM_007601
RefSeq (protein)	NP_000061 NP_077320 NP_775110 NP_775111 NP_775112 NP_775113	NP_001171270.1 NP_031627.2 NP_001103231 NP_001171270 NP_031627
Location (UCSC)	Chr 15: 42.36 – 42.41 Mb	Chr 2: 120.46 – 120.5 Mb
PubMed search

4OKH

825

12335

ENSG00000092529

ENSMUSG00000079110

P20807

Q64691

NM_173090
NM_212465

NM_001109761
NM_001177799
NM_007601

NP_775113

NP_001171270.1
NP_031627.2
NP_001103231
NP_001171270
NP_031627

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.

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