PSMA3 Chromosome 14
Proteasome 20S subunit alpha 3
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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 peptidase T1A family, that is a 20S core alpha subunit. Two alternative transcripts encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Proteasome
Locus Type
gene with protein product
Location
14q23.1
Ensembl
ENSG00000100567
Associated Conditions (2)
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1
DIGENIC
Key Variants
RS1403954498
Conflicting classifications of pathogenicity
Health Risk
RS774361030
Conflicting classifications of pathogenicity
Health Risk
RS1555352516
Pathogenic
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC, PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1
Health Risk
RS1555353410
Pathogenic
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC, PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1403954498 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS774361030 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1555352516 | Health Risk | Pathogenic | PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC, PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 |
| RS1555353410 | Health Risk | Pathogenic | PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC, PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 |