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CAPN3
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.
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets
Predicted location
Intracellular
Single cell type specificity
Group enriched (Early spermatids, Melanocytes, Oligodendrocytes, Late spermatids)
Immune cell specificity
Low immune cell specificity
Cell line specificity
Cell line enriched (SK-MEL-30)
Interaction
Homodimer; via EF-hand domain 4 (PubMed:24846670). Interacts with TTN/titin (PubMed:14583192). Interacts with CMYA5; this interaction, which results in CMYA5 proteolysis, may protect CAPN3 from autolysis (PubMed:20634290). Interacts with SIMC1 (PubMed:23707407). Interacts with UTP25; the interaction is required for CAPN3 translocation to the nucleolus (PubMed:23357851, PubMed:27657329).
Molecular function
Hydrolase, Protease, Thiol protease
More Types Infomation
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- Species Reactivity: Human
- Type: Mouse IgG2b
- Application: WB
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- Derivation: Mouse
- Species Reactivity: Human
- Type: Mouse IgG2a, κ
- Application: WB, ELISA, IF, IHC, IP
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For Research Use Only. Not For Clinical Use.