EC Number   |
General Information |
Reference |
|---|
  3.4.22.B35 | evolution |
calpain 15 (CAPN15) is an intracellular cysteine protease belonging to the non-classical small optic lobe (SOL) family of calpains, an important class of developmental proteins |
771828 |
| 3.4.22.B35 | malfunction |
biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits. Five individuals with microphthalmia and/or coloboma from four independent families carry homozygous or compound heterozygous predicted damaging variants in gene CAPN15. Several individuals have additional phenotypes including growth deficits, developmental delay and hearing loss. Critical role of CAPN15 in vertebrate developmental eye disorders, phenotypes, detailed overview |
771828 |
| 3.4.22.B35 | physiological function |
SOL calpain zinc fingers bind poly- but not mono- or diubiquitin. No specific zinc finger is required for polyubiquitin binding. Neither polyubiquitin nor calcium is sufficient to induce purified SOL calpain to autolyse or to cleave the atypical protein kinase C to protein kinase M in vitro. In Aplysia californica, overexpression of the atypical protein kinase C in sensory neurons leads to an activity-dependent cleavage event and an increase in nuclear ubiquitin staining. Activity-dependent cleavage is partially blocked by a dominant negative SOL calpain |
754460 |
| 3.4.22.B35 | physiological function |
SOL calpain zinc fingers bind to ubiquitin. No specific zinc finger is required for polyubiquitin binding |
754460 |
