CAPN3 (NM_173087) - calpain 3
Calpain-3 Isoform C
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Protein
Kinases
Sites
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PTM Interaction Network Visualisation
Protein 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].
- Strand
- +
- Chromosome
- 15
- Protein
- 729 residues
- All mutations
- 263
- PTM sites
- 6
- CDS
- 42,652,003 - 42,703,971
- Transcription
- 42,651,697 - 42,704,515
Usage summary
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PTM site
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Kinase, PTM site or protein
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