PSMD9
proteasome 26S subunit, non-ATPase 9
Summary
The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core 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. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase 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 non-ATPase subunit of the 19S regulator. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, May 2012]
Known Variants23 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1156702670 | 12:122,326,800 | C/T | — | uncertain significance |
| rs201195366 | 12:122,326,805 | G/A | — | uncertain significance |
| rs1168674 | 12:122,329,478 | C/A | — | — |
| rs1177396432 | 12:122,332,654 | A/G | — | likely benign |
| rs374003798 | 12:122,332,655 | T/C | — | uncertain significance |
| rs75048523 | 12:122,332,705 | G/A | — | uncertain significance |
| rs2500404888 | 12:122,337,600 | A/G | — | uncertain significance |
| rs542016320 | 12:122,337,608 | G/A | — | uncertain significance |
| rs373590240 | 12:122,337,624 | C/T | — | uncertain significance |
| rs145938110 | 12:122,337,663 | G/T | — | uncertain significance |
| rs74421874 | 12:122,340,452 | G/A | intron variant | — |
| rs3825172 | 12:122,340,475 | C/T | intron variant | — |
| rs748504693 | 12:122,340,970 | A/C | — | uncertain significance |
| rs7314056 | 12:122,342,964 | T/G | — | — |
| rs1795967 | 12:122,344,302 | A/T | — | — |
| rs2688412 | 12:122,349,058 | A/G | downstream gene variant | — |
| rs143523078 | 12:122,350,890 | T/A | — | — |
| rs753856590 | 12:122,353,764 | G/T | — | uncertain significance |
| rs2500433405 | 12:122,353,765 | C/T | — | uncertain significance |
| rs118111382 | 12:122,353,791 | G/C | — | likely benign |
| rs14259 | 12:122,353,796 | A/G | missense variant | — |
| rs369086059 | 12:122,353,835 | G/C | — | uncertain significance |
| rs141559222 | 12:122,355,973 | G/A | 3 prime UTR variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.