PSMC3
proteasome 26S subunit, ATPase 3
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 one of the ATPase subunits, a member of the triple-A family of ATPases that have chaperone-like activity. This subunit may compete with PSMC2 for binding to the HIV tat protein to regulate the interaction between the viral protein and the transcription complex. A pseudogene has been identified on chromosome 9. [provided by RefSeq, Jul 2008]
Known Variants24 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs760546886 | 11:47,440,455 | G/A | — | likely benign |
| rs2496047148 | 11:47,440,672 | C/G | — | uncertain significance |
| rs2293579 | 11:47,440,758 | G/A | downstream gene variant | — |
| rs7120413 | 11:47,441,335 | A/G | downstream gene variant | — |
| rs1177898071 | 11:47,441,478 | T/C | — | pathogenic |
| rs10838708 | 11:47,441,513 | G/A | downstream gene variant | — |
| rs2242511 | 11:47,441,664 | C/T | regulatory region variant | — |
| rs527276346 | 11:47,441,877 | C/T | — | likely benign |
| rs2496050187 | 11:47,441,902 | C/T | — | uncertain significance |
| rs151081942 | 11:47,441,928 | C/T | — | likely benign |
| rs2496050991 | 11:47,442,234 | A/G | — | likely pathogenic |
| rs1363348500 | 11:47,442,253 | G/A | — | pathogenic |
| rs142651885 | 11:47,444,155 | A/G | — | uncertain significance |
| rs2496055635 | 11:47,444,183 | T/C | — | uncertain significance |
| rs2496055707 | 11:47,444,227 | A/G | — | conflicting classifications of pathogenicity |
| rs1347753543 | 11:47,444,254 | G/A | — | uncertain significance |
| rs148054958 | 11:47,444,393 | G/A | — | likely benign |
| rs2496056054 | 11:47,444,404 | G/A | — | conflicting classifications of pathogenicity |
| rs2496058270 | 11:47,445,631 | C/T | — | uncertain significance |
| rs1344871576 | 11:47,446,217 | T/C | — | uncertain significance |
| rs768858454 | 11:47,446,681 | G/A | — | likely benign |
| rs17790804 | 11:47,447,202 | T/C | intron variant | — |
| rs1040358479 | 11:47,447,813 | A/G | — | likely benign |
| rs7948705 | 11:47,447,955 | C/G | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.