PSMA6
proteasome 20S subunit alpha 6
Summary
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. Multiple transcript variants encoding several different isoforms have been found for this gene. A pseudogene has been identified on the Y chromosome. [provided by RefSeq, Aug 2013]
Known Variants13 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs17103147 | 14:35,747,918 | C/T | — | benign |
| rs2277460 | 14:35,761,573 | C/T | — | — |
| rs1048990 | 14:35,761,675 | C/G | regulatory region variant | risk factor |
| rs2051503613 | 14:35,761,687 | C/T | — | uncertain significance |
| rs2504105934 | 14:35,761,725 | A/G | — | uncertain significance |
| rs2504105979 | 14:35,761,750 | A/G | — | uncertain significance |
| rs78426265 | 14:35,762,991 | A/T | downstream gene variant | — |
| rs12878391 | 14:35,772,578 | A/G | intron variant | — |
| rs186794633 | 14:35,778,110 | T/G | — | likely benign |
| rs2504177099 | 14:35,782,105 | T/C | — | uncertain significance |
| rs757557606 | 14:35,782,224 | G/A | — | uncertain significance |
| rs768158066 | 14:35,783,633 | G/A | — | uncertain significance |
| rs1236899326 | 14:35,786,493 | C/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.