PSMD12

The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. A pseudogene has been identified on chromosome 3. Diseases associated with PSMD12 include Stankiewicz-Isidor Syndrome. Among its related pathways are RET signaling and CDK-mediated phosphorylation and removal of Cdc6.

Full Name

proteasome (prosome, macropain) 26S subunit, non-ATPase, 12

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.

Biological Process

Proteasome-mediated ubiquitin-dependent protein catabolic process1 PublicationIC:ComplexPortal

Cellular Location

cytoplasm
cytosol
extracellular exosome
extracellular region
ficolin-1-rich granule lumen
membrane
nuclear proteasome complex
nucleoplasm
proteasome accessory complex
proteasome complex
proteasome regulatory particle
proteasome regulatory particle, lid subcomplex
secretory granule lumen

Involvement in disease

Stankiewicz-Isidor syndrome (STISS):
A neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild dysmorphism, ophthalmologic anomalies, feeding difficulties, deafness, and variable congenital malformations of the cardiac and/or urogenital systems.