PSMB10 Chromosome 16
Proteasome 20S subunit beta 10
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What This Gene Does
The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure 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. 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 member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. Proteolytic processing is required to generate a mature subunit. Expression of this gene is induced by gamma interferon, and this gene product replaces catalytic subunit 2 (proteasome beta 7 subunit) in the immunoproteasome. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Proteasome
Locus Type
gene with protein product
Location
16q22.1
Ensembl
ENSG00000205220
Associated Conditions (2)
Immunodeficiency 121 with autoinflammation
Proteasome-associated autoinflammatory syndrome 5
Key Variants
RS1333515119
Pathogenic
Immunodeficiency 121 with autoinflammation, Immunodeficiency 121 with autoinflammation, Immunodeficiency 121 with autoinflammation
Health Risk
RS2058265845
Pathogenic
Proteasome-associated autoinflammatory syndrome 5, Proteasome-associated autoinflammatory syndrome 5
Health Risk
RS2058265858
Pathogenic
Proteasome-associated autoinflammatory syndrome 5, Proteasome-associated autoinflammatory syndrome 5
Health Risk
RS2544397166
Pathogenic
Proteasome-associated autoinflammatory syndrome 5, Proteasome-associated autoinflammatory syndrome 5
Health Risk
RS2544399189
Pathogenic
Immunodeficiency 121 with autoinflammation, Immunodeficiency 121 with autoinflammation
Health Risk
RS753711137
Pathogenic
Proteasome-associated autoinflammatory syndrome 5, Proteasome-associated autoinflammatory syndrome 5
Health Risk
RS763700481
Pathogenic
Proteasome-associated autoinflammatory syndrome 5, Proteasome-associated autoinflammatory syndrome 5
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1333515119 | Health Risk | Pathogenic | Immunodeficiency 121 with autoinflammation, Immunodeficiency 121 with autoinflammation, Immunodeficiency 121 with autoinflammation |
| RS2058265845 | Health Risk | Pathogenic | Proteasome-associated autoinflammatory syndrome 5, Proteasome-associated autoinflammatory syndrome 5 |
| RS2058265858 | Health Risk | Pathogenic | Proteasome-associated autoinflammatory syndrome 5, Proteasome-associated autoinflammatory syndrome 5 |
| RS2544397166 | Health Risk | Pathogenic | Proteasome-associated autoinflammatory syndrome 5, Proteasome-associated autoinflammatory syndrome 5 |
| RS2544399189 | Health Risk | Pathogenic | Immunodeficiency 121 with autoinflammation, Immunodeficiency 121 with autoinflammation |
| RS753711137 | Health Risk | Pathogenic | Proteasome-associated autoinflammatory syndrome 5, Proteasome-associated autoinflammatory syndrome 5 |
| RS763700481 | Health Risk | Pathogenic | Proteasome-associated autoinflammatory syndrome 5, Proteasome-associated autoinflammatory syndrome 5 |