PSMA7
proteasome 20S subunit alpha 7
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. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. This gene encodes a member of the peptidase T1A family that functions as a 20S core alpha subunit. The encoded protein interacts with the hepatitis B virus X protein and plays a role in regulating hepatitis C virus internal ribosome entry site (IRES) activity, an activity essential for viral replication. The encoded protein also plays a role in the cellular stress response by regulating hypoxia-inducible factor-1alpha. A pseudogene of this gene is located on the long arm of chromosome 9. [provided by RefSeq, Jul 2012]
Known Variants8 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2516191700 | 20:60,713,240 | T/C | — | uncertain significance |
| rs780953315 | 20:60,713,286 | C/A | — | uncertain significance |
| rs2056906712 | 20:60,713,297 | T/G | — | uncertain significance |
| rs2145664821 | 20:60,714,850 | G/T | — | uncertain significance |
| rs200101662 | 20:60,714,864 | G/A | — | likely benign |
| rs747560953 | 20:60,714,931 | T/C | — | uncertain significance |
| rs55766494 | 20:60,715,362 | T/C | downstream gene variant | — |
| rs79987174 | 20:60,715,865 | G/A | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.