CAPNS1
Domain
The contact of the 5th EF-hand domain from each monomer allows the formation of the homodimer and also appears to mediate the contact between the large catalytic subunit and small regulatory subunit for the formation of the heterodimer.
EF-hand domains are paired. EF-hand 1 is paired with EF-hand 2 and EF-hand 3 is paired with EF-hand 4. The fifth EF-hand domain, left unpaired, does not bind the calcium but is responsible of the dimerization by EF-embrace. The first four EF-hand domains bind calcium, however it is not sure if the binding of EF-hand 4 to calcium is physiologically relevant.
Function
Regulatory subunit of the calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction. Essential for embryonic development (By similarity).
Involvement in disease
Pulmonary hypertension, primary, 6
PPH6
A form of primary pulmonary hypertension, a disease defined by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. Primary pulmonary hypertension exhibits incomplete penetrance, sex bias and variable age of onset, both within and between families. PPH6 is an autosomal recessive form.
None
The disease may be caused by variants affecting the gene represented in this entry.
Cellular localization
- Cytoplasm
- Cell membrane
- Translocates to the plasma membrane upon calcium binding.
Alternative names
CAPN4, CAPNS, CAPNS1, Calpain small subunit 1, CSS1, Calcium-activated neutral proteinase small subunit, Calcium-dependent protease small subunit, Calcium-dependent protease small subunit 1, Calpain regulatory subunit, CANP small subunit, CDPS