InnateDB Protein
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IDBP-235847.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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CAPN3
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Protein Name
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calpain 3, (p94)
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Synonyms
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CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000380387
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InnateDB Gene
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IDBG-7659 (CAPN3)
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Protein Structure
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Function |
Calcium-regulated non-lysosomal thiol-protease.
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Subcellular Localization |
Cytoplasm.
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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.
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Tissue Specificity |
Isoform I is skeletal muscle specific.
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
5
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
2 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR002048
EF-hand domain
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PFAM |
PF00036
PF13202
PF13405
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PRINTS |
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PIRSF |
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SMART |
SM00054
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TIGRFAMs |
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Modification |
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SwissProt |
P20807
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PhosphoSite |
PhosphoSite-P20807
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TrEMBL |
H3BS30
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UniProt Splice Variant |
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Entrez Gene |
825
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UniGene |
Hs.733336
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RefSeq |
NP_775113
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HUGO |
HGNC:1480
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OMIM |
114240
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CCDS |
CCDS10086
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HPRD |
00255
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IMGT |
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EMBL |
AC012651
AF127764
AF127765
AF209502
AY902237
BC003169
BC003521
BC004883
BC007810
BC067126
BC100782
BC107791
BC128605
BC146649
BC146672
BT007322
X85030
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GenPept |
AAD28253
AAD28254
AAH03169
AAH03521
AAH04883
AAH07810
AAH67126
AAI00783
AAI07792
AAI28606
AAI46650
AAI46673
AAL40183
AAP35986
AAW69391
CAA59403
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