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CAPN3 (NM_000070) - calpain 3

Calpain-3 Isoform A

PTM Interaction Network Visualisation

Protein summary

This is preferred isoform of CAPN3 protein. View all 6 isoforms
CAPN3: calpain-3 isoform a
Description:

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
821 residues
All mutations
288
PTM sites
9
CDS
42,652,003 - 42,703,971
Transcription
42,651,697 - 42,704,515
15.47% of sequence is predicted to be disordered

Usage summary

Network

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PTM site

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Kinases group

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Kinase, PTM site or protein

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External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 825
UniProt
Ensembl