PSMD13
proteasome 26S subunit, non-ATPase 13
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 a non-ATPase subunit of the 19S regulator. Two transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Known Variants19 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs28365927 | 11:236,091 | G/A | missense variant | benign |
| rs12293349 | 11:237,030 | C/T | — | likely benign |
| rs138060871 | 11:241,284 | G/A | upstream gene variant | — |
| rs55781332 | 11:242,859 | A/C | — | — |
| rs505404 | 11:243,268 | T/G | intron variant | — |
| rs7116130 | 11:244,129 | C/T | missense variant | — |
| rs1859588130 | 11:244,431 | A/C | — | uncertain significance |
| rs376432155 | 11:244,462 | G/A | — | uncertain significance |
| rs372085323 | 11:244,741 | G/A | — | uncertain significance |
| rs982723841 | 11:244,754 | T/C | — | uncertain significance |
| rs538419577 | 11:247,283 | A/G | — | uncertain significance |
| rs370025144 | 11:247,341 | G/A | — | uncertain significance |
| rs768390029 | 11:247,345 | C/G | — | uncertain significance |
| rs147375021 | 11:247,387 | C/T | — | likely benign |
| rs148437656 | 11:247,412 | C/T | — | uncertain significance |
| rs6598058 | 11:248,036 | C/T | intron variant | — |
| rs141198412 | 11:248,972 | G/A | — | uncertain significance |
| rs1191406258 | 11:251,914 | C/T | — | uncertain significance |
| rs749059585 | 11:252,524 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.