PSMC5
proteasome 26S subunit, ATPase 5
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 which have a chaperone-like activity. In addition to participation in proteasome functions, this subunit may participate in transcriptional regulation since it has been shown to interact with the thyroid hormone receptor and retinoid X receptor-alpha. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
Known Variants14 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2584625 | 17:61,903,445 | G/C | missense variant | — |
| rs141975038 | 17:61,904,744 | A/G | regulatory region variant | — |
| rs186941288 | 17:61,905,251 | A/G | regulatory region variant | — |
| rs138422324 | 17:61,905,516 | A/C | — | uncertain significance |
| rs2665833 | 17:61,906,846 | T/C | — | benign |
| rs1280161518 | 17:61,906,871 | G/T | — | uncertain significance |
| rs28607100 | 17:61,907,318 | A/G | — | benign |
| rs764867576 | 17:61,907,834 | C/G | — | uncertain significance |
| rs968719 | 17:61,908,271 | C/T | — | benign |
| rs2511432669 | 17:61,908,431 | C/T | — | uncertain significance |
| rs13030 | 17:61,908,556 | C/T | — | benign |
| rs756249254 | 17:61,908,778 | A/G | — | uncertain significance |
| rs2511434065 | 17:61,909,286 | A/G | — | uncertain significance |
| rs6919 | 17:61,909,485 | T/A | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.