InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CAPN3

Summary

InnateDB Protein

IDBP-7671.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CAPN3

Protein Name

calpain 3, (p94)

Synonyms

CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94;

Species

Homo sapiens

Ensembl Protein

ENSP00000183936

InnateDB Gene

IDBG-7659 (CAPN3)

Protein Structure

UniProt Annotation

Function

Calcium-regulated non-lysosomal thiol-protease.

Subcellular Localization

Cytoplasm.

Disease Associations

Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600]: 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. {ECO:0000269PubMed:7720071, ECO:0000269PubMed:8624690, ECO:0000269PubMed:9150160, ECO:0000269PubMed:9266733, ECO:0000269PubMed:9452114, ECO:0000269PubMed:9655129, ECO:0000269PubMed:9762961, ECO:0000269PubMed:9771675}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Isoform I is skeletal muscle specific.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	5 [view]
Protein-Protein	5 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003824	catalytic activity
GO:0004198	calcium-dependent cysteine-type endopeptidase activity
GO:0004871	signal transducer activity
GO:0005509	calcium ion binding
GO:0005515	protein binding
GO:0008233	peptidase activity
GO:0008234	cysteine-type peptidase activity
GO:0008307	structural constituent of muscle
GO:0031402	sodium ion binding
GO:0031432	titin binding
GO:0032947	protein complex scaffold
GO:0055103	ligase regulator activity

Biological Process

GO:0006461	protein complex assembly
GO:0006508	proteolysis
GO:0006915	apoptotic process
GO:0007165	signal transduction
GO:0007517	muscle organ development
GO:0014718	positive regulation of satellite cell activation involved in skeletal muscle regeneration
GO:0014850	response to muscle activity
GO:0030239	myofibril assembly
GO:0033234	negative regulation of protein sumoylation
GO:0043066	negative regulation of apoptotic process
GO:0043122	regulation of I-kappaB kinase/NF-kappaB signaling
GO:0045214	sarcomere organization
GO:0045862	positive regulation of proteolysis
GO:0045892	negative regulation of transcription, DNA-templated
GO:0045893	positive regulation of transcription, DNA-templated
GO:0046716	muscle cell cellular homeostasis
GO:0050790	regulation of catalytic activity
GO:0051092	positive regulation of NF-kappaB transcription factor activity
GO:0051281	positive regulation of release of sequestered calcium ion into cytosol
GO:0051592	response to calcium ion
GO:0061061	muscle structure development
GO:0071277	cellular response to calcium ion
GO:0071472	cellular response to salt stress
GO:0072657	protein localization to membrane
GO:0097264	self proteolysis

Cellular Component

GO:0005622	intracellular
GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005829	cytosol
GO:0005886	plasma membrane
GO:0030016	myofibril
GO:0030018	Z disc
GO:0030315	T-tubule
GO:0043234	protein complex

Protein Structure and Domains

PDB ID

InterPro

IPR001300 Peptidase C2, calpain, catalytic domain
IPR002048 EF-hand domain
IPR022682 Peptidase C2, calpain, large subunit, domain III
IPR022683 Peptidase C2, calpain, domain III
IPR022684 Peptidase C2, calpain family

PFAM

PF00648
PF00036
PF13202
PF13405
PF01067

PRINTS

PR00704

PIRSF

SMART

SM00230
SM00054
SM00720

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt