PSMA1
proteasome 20S subunit alpha 1
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. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Jan 2009]
Known Variants15 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs61732660 | 11:14,529,250 | C/T | — | benign |
| rs541873249 | 11:14,529,266 | T/C | — | uncertain significance |
| rs184210551 | 11:14,535,162 | T/A | — | uncertain significance |
| rs1230554670 | 11:14,535,179 | T/C | — | uncertain significance |
| rs751551757 | 11:14,535,994 | C/T | — | uncertain significance |
| rs371834255 | 11:14,536,026 | C/A | — | uncertain significance |
| rs2493976017 | 11:14,539,234 | T/C | — | uncertain significance |
| rs2062941120 | 11:14,540,584 | G/A | — | uncertain significance |
| rs138234998 | 11:14,547,589 | C/T | intron variant | — |
| rs78899385 | 11:14,560,025 | C/T | intron variant | — |
| rs11499710 | 11:14,594,203 | C/A | — | — |
| rs10160597 | 11:14,603,992 | G/A | intron variant | — |
| rs577185477 | 11:14,612,563 | T/C | — | — |
| rs554808052 | 11:14,636,390 | C/A | — | — |
| rs2007361 | 11:14,662,722 | A/G | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.