CAPN3
Summary: 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. [provided by RefSeq, Jul 2008].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| calpain 3 | MIM:114240 | Ensembl:ENSG00000092529 | HGNC:HGNC:1480 | PA26061 | 15q15.1 |
GO terms in CAPN3
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IDA | GO:0003824 | catalytic activity |
| MF | IBA | GO:0004198 | calcium-dependent cysteine-type endopeptidase activity |
| MF | ISS | GO:0004198 | calcium-dependent cysteine-type endopeptidase activity |
| MF | TAS | GO:0004198 | calcium-dependent cysteine-type endopeptidase activity |
| MF | ISS | GO:0005509 | calcium ion binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IDA | GO:0008233 | peptidase activity |
| MF | TAS | GO:0008234 | cysteine-type peptidase activity |
| MF | ISS | GO:0008307 | structural constituent of muscle |
| MF | ISS | GO:0031402 | sodium ion binding |
| MF | IPI | GO:0031432 | titin binding |
| MF | ISS | GO:0032947 | protein-containing complex scaffold activity |
| MF | IDA | GO:0055103 | ligase regulator activity |
| CC | TAS | GO:0005622 | intracellular |
| CC | IDA | GO:0005634 | nucleus |
| CC | IBA | GO:0005737 | cytoplasm |
| CC | IDA | GO:0005737 | cytoplasm |
| CC | ISS | GO:0005829 | cytosol |
| CC | ISS | GO:0005886 | plasma membrane |
| CC | ISS | GO:0030016 | myofibril |
| CC | ISS | GO:0030018 | Z disc |
| CC | ISS | GO:0030315 | T-tubule |
| CC | ISS | GO:0032991 | protein-containing complex |
| BP | IBA | GO:0006508 | proteolysis |
| BP | IDA | GO:0006508 | proteolysis |
| BP | TAS | GO:0006915 | apoptotic process |
| BP | TAS | GO:0007517 | muscle organ development |
| BP | ISS | GO:0014718 | positive regulation of satellite cell activation involved in skeletal muscle regeneration |
| BP | ISS | GO:0014850 | response to muscle activity |
| BP | ISS | GO:0030239 | myofibril assembly |
| BP | TAS | GO:0030239 | myofibril assembly |
| BP | IDA | GO:0033234 | negative regulation of protein sumoylation |
| BP | IBA | GO:0043066 | negative regulation of apoptotic process |
| BP | IMP | GO:0043066 | negative regulation of apoptotic process |
| BP | IMP | GO:0043122 | regulation of I-kappaB kinase/NF-kappaB signaling |
| BP | ISS | GO:0045214 | sarcomere organization |
| BP | IEA | GO:0045661 | regulation of myoblast differentiation |
| BP | ISS | GO:0045862 | positive regulation of proteolysis |
| BP | ISS | GO:0045892 | negative regulation of transcription, DNA-templated |
| BP | IMP | GO:0045893 | positive regulation of transcription, DNA-templated |
| BP | TAS | GO:0046716 | muscle cell cellular homeostasis |
| BP | IDA | GO:0050790 | regulation of catalytic activity |
| BP | IMP | GO:0051092 | positive regulation of NF-kappaB transcription factor activity |
| BP | ISS | GO:0051281 | positive regulation of release of sequestered calcium ion into cytosol |
| BP | ISS | GO:0051592 | response to calcium ion |
| BP | ISS | GO:0061061 | muscle structure development |
| BP | ISS | GO:0065003 | protein-containing complex assembly |
| BP | IEA | GO:0070315 | G1 to G0 transition involved in cell differentiation |
| BP | ISS | GO:0071277 | cellular response to calcium ion |
| BP | ISS | GO:0071472 | cellular response to salt stress |
| BP | ISS | GO:0072657 | protein localization to membrane |
| BP | IDA | GO:0097264 | self proteolysis |
| BP | IEA | GO:2001015 | negative regulation of skeletal muscle cell differentiation |
Gene expression in normal tissue: CAPN3
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in CAPN3
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP185 | Integrin-mediated Cell Adhesion |
| reactome | R-HSA-1474228 | Degradation of the extracellular matrix |
| reactome | R-HSA-1474244 | Extracellular matrix organization |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in CAPN3
CLASSFICATION
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