| Predicate | Object |
|---|---|
| rdf:type | |
| http://www.biopax.org/relea... |
cpath:CPATH-LOCAL-2206,
cpath:CPATH-LOCAL-2206,
cpath:CPATH-LOCAL-2207,
cpath:CPATH-LOCAL-2207,
cpath:CPATH-LOCAL-2208,
cpath:CPATH-LOCAL-2208,
cpath:CPATH-LOCAL-2209,
cpath:CPATH-LOCAL-2209,
cpath:CPATH-LOCAL-2210,
cpath:CPATH-LOCAL-2210,
cpath:CPATH-LOCAL-2211,
cpath:CPATH-LOCAL-2211,
cpath:CPATH-LOCAL-2212,
cpath:CPATH-LOCAL-2212,
cpath:CPATH-LOCAL-2213,
cpath:CPATH-LOCAL-2213,
cpath:CPATH-LOCAL-2214,
cpath:CPATH-LOCAL-2214,
cpath:CPATH-LOCAL-2215,
cpath:CPATH-LOCAL-2215,
cpath:CPATH-LOCAL-2216,
cpath:CPATH-LOCAL-2216,
cpath:CPATH-LOCAL-2217,
cpath:CPATH-LOCAL-2217,
cpath:CPATH-LOCAL-2218,
cpath:CPATH-LOCAL-2218,
cpath:CPATH-LOCAL-9372,
cpath:CPATH-LOCAL-9372
|
| http://www.biopax.org/relea... |
Calpain-3,
Calpain-3
|
| http://www.biopax.org/relea... |
CAN3_HUMAN,
CAN3_HUMAN
|
| http://www.biopax.org/relea... | |
| http://www.biopax.org/relea... |
3.4.22.54,
3.4.22.54,
CANP 3,
CANP 3,
Calcium-activated neutral proteinase 3,
Calcium-activated neutral proteinase 3,
Calpain L3,
Calpain L3,
Calpain p94,
Calpain p94,
Muscle-specific calcium-activated neutral protease 3,
Muscle-specific calcium-activated neutral protease 3,
New calpain 1,
New calpain 1,
nCL-1,
nCL-1
|
| http://www.biopax.org/relea... |
FUNCTION: Calcium-regulated non-lysosomal thiol-protease. CATALYTIC ACTIVITY: Broad endopeptidase activity. ENZYME REGULATION: Activated by micromolar concentrations of calcium and inhibited by calpastatin. SUBUNIT: Interacts with TTN/titin. SUBCELLULAR LOCATION: Cytoplasm. ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=4; Name=I; IsoId=P20807-1; Sequence=Displayed; Name=II; IsoId=P20807-2; Sequence=VSP_005227, VSP_005228; Name=III; IsoId=P20807-3; Sequence=VSP_005229; Name=IV; IsoId=P20807-4; Sequence=VSP_007813; TISSUE SPECIFICITY: Isoform I is skeletal muscle specific. DISEASE: Defects in CAPN3 are the cause of limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]. LGMD2A is 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. SIMILARITY: Belongs to the peptidase C2 family. SIMILARITY: Contains 1 calpain catalytic domain. SIMILARITY: Contains 4 EF-hand domains. WEB RESOURCE: Name=Leiden Muscular Dystrophy pages; Note=Calpain-3 mutations in LGMD2A; URL="http://www.dmd.nl/capn3_home.html"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CAPN3"; WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/capn3/"; GENE SYNONYMS: CANP3 CANPL3 NCL1. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.,
FUNCTION: Calcium-regulated non-lysosomal thiol-protease. CATALYTIC ACTIVITY: Broad endopeptidase activity. ENZYME REGULATION: Activated by micromolar concentrations of calcium and inhibited by calpastatin. SUBUNIT: Interacts with TTN/titin. SUBCELLULAR LOCATION: Cytoplasm. ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=4; Name=I; IsoId=P20807-1; Sequence=Displayed; Name=II; IsoId=P20807-2; Sequence=VSP_005227, VSP_005228; Name=III; IsoId=P20807-3; Sequence=VSP_005229; Name=IV; IsoId=P20807-4; Sequence=VSP_007813; TISSUE SPECIFICITY: Isoform I is skeletal muscle specific. DISEASE: Defects in CAPN3 are the cause of limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]. LGMD2A is 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. SIMILARITY: Belongs to the peptidase C2 family. SIMILARITY: Contains 1 calpain catalytic domain. SIMILARITY: Contains 4 EF-hand domains. WEB RESOURCE: Name=Leiden Muscular Dystrophy pages; Note=Calpain-3 mutations in LGMD2A; URL="http://www.dmd.nl/capn3_home.html"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CAPN3"; WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/capn3/"; GENE SYNONYMS: CANP3 CANPL3 NCL1. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.
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| skos:exactMatch | |
| skos:closeMatch |