PSMA5
proteasome 20S subunit alpha 5
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 alternatively spliced transcript variants encoding two distinct isoforms have been found for this gene. [provided by RefSeq, Dec 2010]
Known Variants6 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs774287745 | 1:109,944,706 | T/C | — | uncertain significance |
| rs144425895 | 1:109,948,698 | A/C | intron variant | — |
| rs142798786 | 1:109,954,513 | C/G | — | uncertain significance |
| rs7555732 | 1:109,961,935 | A/T | — | — |
| rs10858096 | 1:109,967,104 | C/A | intron variant | — |
| rs10858097 | 1:109,967,324 | C/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.