PSMB10
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. The proteasome has an ATP-dependent proteolytic activity. This subunit is involved in antigen processing to generate class I binding peptides.
Involvement in disease
Proteasome-associated autoinflammatory syndrome 5
PRAAS5
An autosomal recessive, autoinflammatory disorder characterized by recurrent, polymorphic disseminated cutaneous rash with annular lesions, non-specific lymphocytic infiltration in the skin, fever, failure to thrive, and persistent hepatosplenomegaly. Disease onset is in early infancy.
None
The disease may be caused by variants affecting the gene represented in this entry.
Immunodeficiency 121 with autoinflammation
IMD121
An autosomal dominant immunologic disorder characterized by severe combined immunodeficiency with T- and B-cell lymphopenia and low-normal NK cell numbers, failure to thrive, diarrhea, alopecia, and desquamating erythematous rash. Remaining T cells have limited T-cell receptor repertoires, a skewed memory phenotype, and an elevated CD4/CD8 ratio. Bone marrow examination indicates severely impaired B-cell maturation with limited V(D)J recombination.
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
LMP10, MECL1, PSMB10, Proteasome subunit beta type-10, Low molecular mass protein 10, Macropain subunit MECl-1, Multicatalytic endopeptidase complex subunit MECl-1, Proteasome MECl-1, Proteasome subunit beta-2i