Disease-gene associations mined from literature

Literature associating PSMB1 and type 1 diabetes mellitus 8

PSMB1 [ENSP00000262193]

Proteasome (prosome, macropain) subunit, beta type, 1; Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex).

Synonyms:  PSMB1,  PSMB1p,  hPSMB1,  P20618,  PSMB1-001 ...

Linkouts:  STRING  Pharos  UniProt  OMIM