PSMB9
Developmental stage
Highly expressed in immature dendritic cells (at protein level).
Function
The proteasome is a multicatalytic proteinase complex which is characterized by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH (PubMed:33727065, PubMed:34819510). The proteasome has an ATP-dependent proteolytic activity. This subunit is involved in antigen processing to generate class I binding peptides. Replacement of PSMB6 by PSMB9 increases the capacity of the immunoproteasome to cleave model peptides after hydrophobic and basic residues.
Involvement in disease
Proteasome-associated autoinflammatory syndrome 3
PRAAS3
An autoinflammatory disorder characterized by onset in early infancy and recurrent fever, nodular dermatitis, myositis, panniculitis-induced lipodystrophy, lymphadenopathy, and immune dysregulation. Variable accompanying features may include joint contractures, hepatosplenomegaly, anemia, thrombocytopenia, recurrent infections, autoantibodies, and hypergammaglobulinemia. Some patients may have intracranial calcifications. PRAAS3 inheritance is autosomal recessive or digenic.
None
The disease may be caused by variants affecting distinct genetic loci, including the gene represented in this entry.
Proteasome-associated autoinflammatory syndrome 6
PRAAS6
An autosomal dominant, autoinflammatory disorder characterized by recurrent fever, skin rash, myositis, liver dysfunction, splenomegaly, pulmonary hypertension, and basal ganglia calcifications. Disease onset is in early infancy.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Autocleaved. The resulting N-terminal Thr residue of the mature subunit is responsible for the nucleophile proteolytic activity.
Sequence Similarities
Belongs to the peptidase T1B family.
Cellular localization
- Cytoplasm
- Nucleus
Alternative names
LMP2, PSMB6i, RING12, PSMB9, Proteasome subunit beta type-9, Low molecular mass protein 2, Macropain chain 7, Multicatalytic endopeptidase complex chain 7, Proteasome chain 7, Proteasome subunit beta-1i, Really interesting new gene 12 protein