26S proteasome regulatory subunit 4
Function
Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. PSMC1 belongs to the heterohexameric ring of AAA (ATPases associated with diverse cellular activities) proteins that unfolds ubiquitinated target proteins that are concurrently translocated into a proteolytic chamber and degraded into peptides.
Involvement in disease
Birk-Aharoni syndrome
BKAH
An autosomal recessive disorder characterized by failure to thrive, severe developmental delay, intellectual disability, spastic tetraplegia with central hypotonia, chorea, hearing loss, micropenis and undescended testes, as well as mild elevation of liver enzymes.
None
The disease may be caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the AAA ATPase family.
Cellular localization
- Cytoplasm
- Nucleus
- Membrane
- Lipid-anchor
Alternative names
26S proteasome regulatory subunit 4, P26s4, 26S proteasome AAA-ATPase subunit RPT2, Proteasome 26S subunit ATPase 1, PSMC1