PSMC3
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. PSMC3 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
Deafness, cataract, impaired intellectual development, and polyneuropathy
DCIDP
An autosomal recessive disease characterized by early onset of deafness, cataract, severe developmental delay, and severely impaired intellectual development. Patients later develop polyneuropathy of the lower extremities, associated with depigmentation of the hair in that area.
None
The disease may be caused by variants affecting the gene represented in this entry.
Post-translational modifications
Sumoylated by UBE2I in response to MEKK1-mediated stimuli.
Sequence Similarities
Belongs to the AAA ATPase family.
Cellular localization
- Cytoplasm
- Nucleus
- Colocalizes with TRIM5 in the cytoplasmic bodies.
Alternative names
TBP1, PSMC3, 26S proteasome regulatory subunit 6A, 26S proteasome AAA-ATPase subunit RPT5, Proteasome 26S subunit ATPase 3, Proteasome subunit P50, Tat-binding protein 1, TBP-1